Gly Gly Gly Thr Gly Ala Ala 755 760 765 Ala Gly Gly Cys Thr Cys Cys Cys Thr Gly Cys Thr Gly Thr Gly Thr 770 775 780 Thr Thr Ala Thr Gly Cys Ala Ala Thr Gly Gly Cys Thr Cys Ala Gly 785 790 795 800 Gly Cys Cys Cys Thr Thr Gly Thr Gly Ala Ala Gly Thr Gly Cys Cys 805 810 815 Gly Ala Gly Gly Gly Ala Cys Cys Cys Cys Ala Ala Gly Cys Ala Gly 820 825 830 Cys Cys Thr Cys Cys Ala Thr Cys Thr Cys Cys Cys Ala Gly Gly Gly 835 840 845 Cys Ala Thr Gly Gly Thr Cys Cys Ala Thr Cys Cys Cys Cys Ala Gly 850 855 860 Cys Thr Thr Thr Cys Ala Cys Ala Gly Ala Ala Cys Ala Gly Gly Ala 865 870 875 880 Ala Ala Gly Cys Thr Gly Thr Gly Gly Ala Gly Gly Ala Gly Thr Gly 885 890 895 Thr Gly Gly Gly Cys Ala Gly Cys Ala Gly Gly Gly Thr Ala Gly Gly 900 905 910 Ala Ala Thr Gly Gly Ala Thr Ala Thr Ala Gly Cys Cys Cys Thr Thr 915 920 925 Gly Gly Cys Ala Ala Cys Ala Ala Cys Ala Cys Ala Thr Thr Thr Cys 930 935 940 Cys Cys Cys Ala Cys Ala Ala Ala Gly Cys Ala Cys Cys Cys Ala Cys 945 950 955 960 Cys Cys Ala Ala Ala Ala Gly Ala Ala Cys Ala ...
Background: Polymorphisms of genes encoding enzymes involved in folate metabolism have long been hypothesized to be maternal risk factors for Down syndrome, however, results are conflicting and inconclusive.. Aim of the study: To analyze the effect of methionine synthase (MTR) A2756G, and reduced folate carrier (RFC1) A80G gene polymorphisms on the maternal risk for DS.. Patients: This study was conducted in the Medical Genetics Center, Ain-Shams University hospitals, on a total of 170 mothers of children, diagnosed with Down syndrome, who were attending the center. Eighty-five control mothers were also enrolled in the study.. Methods: Genotype analyses were performed using PCR-RFLP to detect RFC1A80G and MTRA2756G gene polymorphisms in all case and control mothers.. Results: Comparing RFC1A80G genotype frequency between both groups revealed, that the frequency of the AA genotype in case mothers (94.11%) is highly significantly (p, 0.001) greater than its frequency in control mothers (74.11%), ...
A lot of studies have been conducted to examine the association of genetic polymorphism and risk of CAD. A meta-analysis of 9 studies that included 1,700 CAD patients and 4,081 healthy controls suggested that ALDH2 Glu504Lys polymorphism may be associated with increased risk of CAD and myocardial infarction in East Asians, especially among Chinese and Korean populations [22]. A meta-analyses of 26 studies that included 12,776 cases and 6,371 controls found that -1562C,T polymorphism in the promoter region of matrix metalloproteinase-9 may have association with CAD risk in Asian populations [23]. A meta-analyses of 22 studies including 3,502 CAD patients and 3,071 controls suggested that the angiotensin II receptor, type 1 gene A1166C polymorphism might be a genetic marker for the development of CAD in Chinese populations, especially in the context of studies with northern and older subjects [24, 25]. A meta-analyses of 11 studies involving 22,584 subjects showed that PTGS2 -765G/C was associated ...
The design and analysis of association studies for repeat polymorphisms has received scant attention in the literature. We present an analytical power calculation for studies of such polymorphisms, based on a case-parent design and an X-linked polymorphism. Existing tools for estimating statistical power in family-based studies (such as Quanto) presume categorical codings of autosomal loci. We extend the underlying method to handle quantitative codings of repeat polymorphisms, and discuss the advantages of doing so. Sample sizes for a conditional logistic regression analysis of a sex-linked repeat polymorphism in a case-parent design are presented. Empirical power for quantitative and categorical codings of the same polymorphism with the same sample size in otherwise identical studies are then compared via Monte Carlo simulation. The differences in information to be expected from male and female case-parent, case-sibling, and case-population pairs are discussed. In addition, the effects of ...
AimInflammation is a risk factor for coronary heart disease (CHD). A common deletion-allele in the promoter region of NFKB1 results in lower protein levels of the NF-κB p50 subunit. Recent evidence suggests that the NF-κB p50 dimer has anti-inflammatory effects. We aimed to investigate the association of the functional ATTG NFKB1 insertion/deletion variant with risk of CHD in three independent prospective studies of generally healthy men and women. Methods and resultsThe NFKB1 ins/del polymorphism was genotyped in studies of CHD nested within the Diet, Cancer and Health (DCH) study, the Health Professionals Follow-up (HPFS) and the Nurses Health (NHS) studies, totaling 1008, 428 and 439 cases, respectively. The minor allele frequency in the combined sample was 0.38 among controls. In a pooled analysis, the relative risk (RR) among heterozygous men and women was 1.22 (95% CI: 1.07-1.40), compared to the most common ins/ins genotype. The RR among homozygotes was 1.20 (95% CI: 0.94-1.53). There ...
3. Role of recombination in shaping the genomic variation of an organism. I study these topics with genomic polymorphism data of Daphnia in my postdoctoral researches. Genetic characteristics found in Daphnia, including strong population structure and existence of sexual and asexual individuals, provide exciting opportunities to investigate the topics. In order to analyze genomic data of an organism generated by the inherently error-prone genomic sequencing, I develop mathematical methods for estimating population parameters, including the population differentiation measure FST and the linkage disequilibrium coefficient D, from genomic polymorphism data under the presence of erroneous sequence reads. Publications ...
Background: Polymorphisms in glutathione S-transferase (GST) genes may contribute to breast cancer risk. The aim of this study was to investigate any association of two common GSTO1 A140D and GSTO2 N142D gene polymorphisms with breast cancer risk in an Iranian population followed by a protein structure analysis. Materials and Methods: In the case-control study, 303 subjects comprising 153 women with breast cancer and 150 healthy controls were included. Genotypes of GSTO1 A140D and GSTO2 N142D polymorphisms were assessed by PCR-RFLP. Bioinformatics tools were employed to evaluate the damaging effects of A140D and N142D on the structures of GSTO1 and GSTO2 proteins. Results: Our genetic association study revealed that the GSTO1 A140D polymorphism was associated with breast cancer in a dominant model (OR= 1.75, 95%CI= 1.07-2.86, p= 0.026). Also, the A allele was significantly associated with breast cancer risk (OR= 1.69, 95%CI= 1.09-2.60, p= 0.018). With regard to the N142D polymorphism, there were
Background: Hemodialysis (HD) patients are at an increased risk of acquiring hepatitis B virus (HBV) infection. Active HBV immunization in these patients is recommended. A response rate in HD patients is variable but generally lower than healthy individuals. Objective: The aim of this study is to assess the response of HD patients to the HBV vaccine and correlate response and long-term immunity to various clinical and biomedical factors. Patients and Methods: One hundred and one patients, with a mean age 48.7 ± 18.5 years, received 40 μg of HBV vaccine administered intramuscularly in the deltoid region at 0, 1, 2 and 6 months. The patients responses to the vaccine were determined by measuring hepatitis B surface antibody (HBsAb) 6 weeks after the last injection and monitored thereafter at 3-month intervals. Results: Seventy-one patients (70.3%) mounted a response with HBsAb ,10 mIU/ml 6 weeks following the fourth dose of vaccine, and thus were considered considered as adequate responders. ...
The results of this study suggest that genetic polymorphisms RAD52 2259C , T, ERCC1 8092C , A and 354C , T, and hMLH1 −93G , A are associated with risk of breast cancer in Korean women. Particularly, the effects of RAD52 2259C , T and ERCC1 354C , T genotypes were evident for the ER−/PR− cases.. Whereas we found an association between the RAD52 2259C , T polymorphism and breast cancer risk, a previous study conducted by Kushel et al. (7) did not, in which only crude ORs were estimated. In the present study, initial crude OR for the RAD52 2259 CT or TT genotype was not significant, either (crude OR, 1.22; 95% CI, 0.95-1.58). Therefore, the discrepancy between these two studies might be partly attributed to the adjustment for other risk factors of breast cancer, in addition to the differences of populations (Caucasian versus Korean) and variant allele frequencies (0.44 versus 0.53).. There may be biological plausibility for our finding of an association between the hMLH1 polymorphism in the ...
721360PRTHomo sapiens 1Met Ala Gly His Leu Ala Ser Asp Phe Ala Phe Ser Pro Pro Pro Gly1 5 10 15Gly Gly Gly Asp Gly Pro Gly Gly Pro Glu Pro Gly Trp Val Asp Pro 20 25 30Arg Thr Trp Leu Ser Phe Gln Gly Pro Pro Gly Gly Pro Gly Ile Gly 35 40 45Pro Gly Val Gly Pro Gly Ser Glu Val Trp Gly Ile Pro Pro Cys Pro 50 55 60Pro Pro Tyr Glu Phe Cys Gly Gly Met Ala Tyr Cys Gly Pro Gln Val65 70 75 80Gly Val Gly Leu Val Pro Gln Gly Gly Leu Glu Thr Ser Gln Pro Glu 85 90 95Gly Glu Ala Gly Val Gly Val Glu Ser Asn Ser Asp Gly Ala Ser Pro 100 105 110Glu Pro Cys Thr Val Thr Pro Gly Ala Val Lys Leu Glu Lys Glu Lys 115 120 125Leu Glu Gln Asn Pro Glu Glu Ser Gln Asp Ile Lys Ala Leu Gln Lys 130 135 140Glu Leu Glu Gln Phe Ala Lys Leu Leu Lys Gln Lys Arg Ile Thr Leu145 150 155 160Gly Tyr Thr Gln Ala Asp Val Gly Leu Thr Leu Gly Val Leu Phe Gly 165 170 175Lys Val Phe Ser Gln Thr Thr Ile Cys Arg Phe Glu Ala Leu Gln Leu 180 185 190Ser Phe Lys Asn Met Cys Lys Leu Arg Pro Leu Leu Gln Lys Trp Val 195 200 205Glu Glu Ala Asp Asn Asn ...
Numerous papers have studied the contribution of cytokine polymorphisms to the course of viral hepatitis.14-17 However, due to the heterogeneity of the studied populations, small sample sizes and ethnic differences results so far have been conflicting. Therefore, we have chosen to perform a prospective vaccination study to investigate the influence of IL-10 promoter polymorphisms on the immune response to HBsAg. Because gender, age, body mass index, and smoking significantly influence HBsAg responsiveness, this prospective approach allows the simultaneous assessment of these known confounders and the investigated IL-10 polymorphisms on HBsAg immune responsiveness. Our data show that the anti-HBs response is strongly influenced by polymorphisms in the IL-10 promoter. Individuals carrying the ACC haplotype had GMTs twice as high as individuals without this haplotype. The effect of the haplotype on the anti-HBs response was stronger than that of the −1082A polymorphism alone. We have previously ...
FPAIG : Patient DNA was evaluated for the PAI-1 4G/5G promoter polymorphism, which is a single base pair guanine (4G/5G) deletion/insertion polymorphism, using polymerase chain reaction (PCR) technology and restriction fragment length polymorphism (RFLP).
Background: Glibenclamide is a substrate and an inhibitor of P-glycoprotein which is coded by the gene ABCB1. The influence of ABCB1C3435T gene polymorphism on the therapeutic effect of glibenclamide and its plasma levels has not been studied. Materials and Methods: The study was done in type 2 diabetes mellitus patients of South India (n=80) who were on treatment with glibenclamide as a single agent or along with metformin. From a venous blood sample, ABCB1 C3435T genetic polymorphism and plasma levels of glibenclamide were determined. The parameters were compared between genotype groups. Patient characteristics across genotypes were analyzed using one way ANOVA and the association between glycemic status and genotype was studied using Chi Square test. The association between genotypes and parameters such as C/D values, hypoglycemic episodes were compared using Kruskal Wallis Test. Results: There were no significant differences in age, body mass index and duration of treatment between the ...
Diabetes is a heterogeneous disease where many factors are involved in its pathogenesis. The genotype frequency of Catalase (CAT) microsatellite polymorphism in patients with Type 1-Diabetes (T1DM) was analysed.
The invention provides compositions and methods for determining the likelihood of successful treatment with dual therapy such as lapatinib. The methods comprise determining the genomic polymorphism or expression level of a gene present in a predetermined region of a gene of interest and correlating the polymorphism or expression level to the predictive response. Patients identified as likely responsive are then treated with the appropriate therapy.
A package to use massively parallel DNA sequence data to identify differences between bacterial genomes at high sensitivity and specificity. VAAL is a variant ascertainment algorithm which found ~98% of differences (including large indels) between pairs of strains from three species while calling no false positives. During evaluation of the performance on the callable polymorphisms, VAAL shows high sensitivity in finding nearly all of the possible callable polymorphisms.
Three single nucleotide polymorphisms (SNP) have been identified in the 5 flank of the COLIA1 gene (-1997G/T; -1663IndelT and +1245G/T) which have been associated with osteoporosis in various populations. The individual polymorphisms were all associated with BMD, but the haplotypes defined by all three SNP showed a stronger association with BMD, biomechanical strength of bone and hip fracture. Two haplotypes increased in frequency with age suggesting an effect on survival. However these haplotypes were particularly enriched in hip fracture patients. Biomechanical testing showed that all three SNPs were strongly associated with reduced bone strength, independently of BMD. Gel shift assays showed that the region surrounding the -1663insdeIT polymorphism recognised the nuclear binding proteins NMP4 and Osterix and the -1663deIT allele had greater binding affinity than -1663insT allele. the region surrounding the -1997 G/T polymorphism also recognised DNA binding proteins but the polymorphism did ...
ADRB2 polymorphisms occur commonly in the human population and have been associated with a number of asthma phenotypes.8,9,11,12,27-29 The aim of this study was to investigate the association between ADRB2 polymorphisms and BDR, NSBH, and the rate of decline in lung function in smokers. In contrast to results in patients with asthma, we found no association between ADRB2 polymorphisms and either BDR or NSBH. However, there was a significantly lower prevalence of heterozygous Glu27/Gln27 individuals among the smokers with a fast decline in lung function, suggesting a protective effect of this genotype.. Previous association studies of ADRB2 polymorphisms and specific phenotypes related to airway disease and function have been reviewed by Joos et al.30 Despite considerable controversy and conflicting results, the most consistent finding was a relationship between the polymorphism at position 16 and BDR. However, we found no association between BDR and any allele, genotype, or haplotype in this ...
Interethnic differences in the distribution of genetic polymorphisms in drug metabolizing enzymes, targets, receptors, and transporters are very common (22) . For example, the variants in the thiopurine methyltransferase gene showed significant interethnic difference in global populations (22) ; similar findings were observed for a common length polymorphism in the thymidylate synthase 5′ untranslated region (23 , 24) . The population differences in the allelic distribution of EGFR intron 1 (CA)n polymorphism may be attributable to either the natural selection of an advantageous allele by unknown environmental factors or the fixation of allele frequency through a founder effect. Data from many genome-wide polymorphisms in Chinese compared with Caucasians and other populations indicated the contributions of a founder effect and population expansion to allelic population structure (22, 23, 24, 25) .. This population disparity is also an important factor that may contribute to interindividual ...
Published data on the association between AURKA polymorphisms and breast cancer (BC) risk are inconclusive. This meta-analysis was performed to derive a more precise estimation on the relationship between AURKA polymorphisms (rs2273535 and rs1047972) and BC risk. PubMed, Web of Knowledge and Embase were searched for relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the strength of associations. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were performed for allele contrast genetic model, homozygous genetic model, heterozygote genetic model, dominant model, and recessive model, respectively. A total of 13 studies (16,349 BC patients and 20,872 case-free controls) were involved in this meta-analysis. Meta-analysis showed that there was significant association between rs2273535 and BC risk in three genetic models in the overall population (A vs. T: OR = 1.08, 95% CI = 1.01-1.15, P = 0.02; AA vs. TT: OR = 1.36, 95% CI = 1.06-1.73, P | 0.00001;
This is the first case-control study of XPA polymorphisms in relation to lung cancer. In our study, the XPA 23GG genotype was associated with a significantly decreased risk for lung cancer. The protective effects were evident in younger individuals, males, and current smokers. These findings suggest that the XPA A23G polymorphism may contribute to inherited genetic susceptibility to lung cancer.. Because the XPA G709A polymorphism was not detected in cases and controls, we analyzed only the association of the XPA A23G polymorphism with lung cancer risk. The frequency of the XPA 23G allele among the healthy controls in this study was 0.52, which was similar to that (0.57) observed in Polish population (15) .. Although the mechanism responsible for the association between the XPA A23G polymorphism and lung cancer risk remains to be elucidated, several lines of evidence presented herein support the biological plausibility of this association:. (a) The XPA A23G polymorphism had more clear effect on ...
Wang HM, Zhang XY, Jin B. TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-analysis based on 14,492 subjects. Genetic Testing and Molecular Biomarkers 2013; 17(12): 937- ...
Natsuume, sakai S.; Hayakawa, J; and Takahashi, M, "Genetic polymorphism of murine c3 controlled by a single co-dominant locus on chromosome 17." (1978). Subject Strain Bibliography 1978. 3192 ...
In this study, our purpose was to investigate the role of gene polymorphisms in the promoter of the human BTC gene in type 2 diabetic patients. Because the promoter of the human BTC gene had not been well studied, we initially characterized about 2.3 kb of the 5′-flanking region of the human BTC gene in a pancreatic β-cell line. We then screened gene polymorphisms in this region and found that the G allele of the −226A,G polymorphism was more frequent in type 2 diabetic patients than in nondiabetic subjects. However, the possibility that this result is a false-positive finding should be considered, because the sample size of our case-control analysis is small and the P values obtained are modest (17). Therefore, we further investigated the effect of the −226A,G polymorphism on clinical profiles of patients and the functional properties of all polymorphisms identified. We first examined the relationship between the G allele of the −226A,G polymorphism and insulin secretion ability in ...
We screened 220 volunteers (aged 19 to 32 years; 113 women and 107 men) for the Arg16Gly, Gln27Glu, and Thr164Ile polymorphisms of the β2-AR. All subjects were white and were recruited from the Halle area of Germany. To obtain human genomic DNA, 10 mL of blood were withdrawn into tubes containing EDTA, and DNA was isolated with a commercial DNA isolation kit (Pharmacia Biotech). Genotyping for the Arg16Gly and Gln27Glu polymorphism was performed as described previously6 7 ; genotyping for the Thr164Ile polymorphism was carried out as described by Aynacioglu et al8 with a few alterations: a 280-bp fragment of the coding sequence containing the Thr164Ile polymorphism of the β2-AR gene (GenBank accession No. J02960) was amplified.. Polymerase chain reaction (PCR) conditions were as follows: 100 ng of genomic DNA was added to a solution containing 1 μmol/L forward primer (5′-GTGATCGCAGTGGATCGCTACT-3′), 1 μmol/L reverse primer (5′-AGAGCAAGACCATGATCACCAG-3′), 2.5 mmol/L MgCl2 ...
The results are displayed in Table 2. In the overall analysis, TIM-3 rs1036199 polymorphism was associated with an increased risk of ADs in allelic (G versus T: OR = 1.59, 95%CI: 1.17-2.17, Figure 2A) and heterozygous models (GT versus TT: OR = 1.68, 95%CI: 1.37-2.06, Figure 3A). As shown in Table 2, no significant heterogeneity was found in the heterozygous model (P=0.142, I2 = 33.3%), but slight heterogeneity was found in allele model (P=0.030, I2 = 51.3%). Subsequently, subgroup analysis was conducted by ethnicity, source of control and disease type. When subgroup analysis was performed based on ethnicity, significant correlation was detected between rs1036199 polymorphism and increased risk of ADs in Asian populations (G versus T: OR = 1.76, 95%CI: 1.43-2.18; GT versus TT: OR = 1.82, 95%CI: 1.46-2.28, Figures 2B and 3B), but not in African populations. When results were stratified by source of controls, increased risk of AD was detected in both population-based studies (G versus T: OR = ...
Conventional risk factors for atherothrombotic vascular disease account for approximately 50% of the total attributable risk burden. This fact has led to aggressive approaches to the identification of alternate determinants of risk with mechanistic rationale. In this expanding era of the human genome, epidemiologists in search of other risk factors have been given a very large set of additional targets, that is, polymorphisms or mutations throughout the genome. A polymorphism is a change in the sequence of a normal or "wild-type" gene that is relatively abundant in a population (i.e., ∼0.5% to 1%); by contrast, a mutation is a change in the sequence of a wild-type gene that is less common. Moreover, mutations often, and polymorphisms on occasion, have been shown to affect the expression or activity of a gene product, thus making their identification important in discerning possible mechanistic determinants of disease.. Atherothrombosis is a polygenic disease and is described as a complex ...
Tumor Necrosis Factor-alpha (TNF-α) has been implicated in the pathogenesis of insulin resistance and obesity. The increased expression of TNF-α in adipose tissue is known to induce insulin resistance, and a polymorphism at position -308 in the promoter region of TNF-α gene may lead to its increased transcription in adipocytes. The objective of this work was to determine the role of TNFα-308G/A gene polymorphism in metabolic syndrome (MetS) and coronary artery disease (CAD) with obesity and type 2 diabetes mellitus (T2DM). A total of 250 MetS and 224 CAD patients and 214 controls were studied. TNFα-308G/A polymorphism was detected from the whole blood genomic DNA using PCR-amplification refractory mutation system. The 2 × 2 contingency tables and multiple regression analysis were used for determining the association of genotypes with obesity and type 2 diabetes mellitus (T2DM) in MetS and CAD subjects. In CAD subjects with T2DM, the AG genotypes showed a very strong association (P , ...
GSTs3 are a family of cytosolic enzymes that are potentially important in regulating susceptibility to cancer due to their ability to metabolize reactive metabolites of carcinogens ,(1) . Among them, GSTM1 and GSTT1 have attracted most of the interest (2) , mainly because they are involved in detoxification of reactive metabolites of carcinogenic substances from tobacco smoke (3) . The absence of GSTM1 and GSTT1 enzyme activities in approximately 50% and 20% of Caucasians, respectively, are due to homozygous inherited deletion in the respective genes (null genotype; Refs. 4 and 5 ). Results from the previous studies on larynx cancer risk associated with the GSTM1 phenotype/genotype or the GSTT1 genotype have been inconclusive, and only a moderate increase in risk, if any, was observed (6, 7, 8, 9) . One of the possible reasons of the divergent findings may rely on polymorphisms of other relevant GST genes (10 , 11) .. Recently, polymorphisms in GSTM3 and GSTP1 loci were reported (12 , 13) . In ...
I also think the strange use of dog as a factory class to produce subtypes of dogs is a little odd-form from an OO form, and that most OO purists would frown on the eval and use of reflection to pick subclasses. But I come from a very non-Perlish OO background, so this is just my two cents. In conclusion, if we want to call this a tutorial, I say this should be a tutorial on the factory pattern, not a tutorial on polymorphism. Polymorphism is a much more general concept, and we skip over that generality by starting with the factory piece first. I would be interested to see if the factory could be made without using eval, as well...I think it can, especially if the dogs were loaded previously in a more-safe matter. But hey, maybe we dont have to worry about unsafe loading of doggies -- they do allright in the back of a pickup truck usually :) Anyway, cool stuff, just a few ideas thrown out here. *yelp*. ...
140 Chinese essential hyperlipidemia patients were screened and genotyped for SLCO1B1 521T,C and 388A,G polymorphisms using a tetra-primer amplification refractory mutation system-polymerase chain reaction(ARMS-PCR) and polymerase chain reactio-restrictive fragment length polymorphism (PCR-RFLP). 85 patients were drawn randomly and sequentially received 2mg/d amlodipine for 56 days. The Serum total cholesterol (TC), triglyeride (TG), high-density lipoproteins(HDL) and low-density lipoprotein (LDL) levels were determined at baseline, 28 days and 56 days. ...
The β2-AR is a major lipolytic receptor in human fat cells. With the notion that the β2-AR polymorphisms might play a role in obesity, Large et al. (1997)genotyped 140 women with a large variation in body fat mass. The Glu27 homozygotes had an average fat mass excess of 20 kg (Large et al., 1997, Table 1). Neither allele at the Arg16Gly polymorphism was linked to obesity. An investigation of obese men did not give a similar result (Hellstrom et al., 1999). These findings in women will probably stimulate further work and may be applied to the known interethnic variability in obesity.. The codon 164 threonine/isoleucine polymorphism of β2-AR has not received much attention in humans because of the comparative rarity of the less frequent (isoleucine) allele. To investigate the functional significance of this polymorphism in the myocardium, Turki et al. (1996) prepared transgenic mice expressing 45 times the normal endogenous β2-AR. Mice with the mutant 164 Ile and mice with the wild-type ...
Objective: To perform a 1:1 matched case-control study to evaluate the role of IL-8 rs4073, rs1126647 and rs2227306 polymorphisms in the development o..
Your daughter seems to show the typical clinical picture of CF. A genetic analysis had been done and in addition to the deltaF508, 7T and 9T polymorphisms have been found. Those T tracts in the CFTR gene are called polymorphic tracts, as they can be found in variable length; three to four common alleles may be detected: T5, T7 and T9 and much rarer T3. T7 and T9 are the "normal " variants, not resulting in CF at all. T3 and T5 are the variants, that could lead together with a certain length of a so-called TG repeat to disease symptoms, mostly however, even not to the classical clinical picture but only to mild courses. However, your daughter has the normal length of the T tract with T7 and T9, so this has nothing to do with her CF (probably you read about other polymorphisms, there are many, many others in other places of the CFTR gene, with different clinical impact, however, here we talk about the specific T polymorphism ...
A trans-species polymorphism. Some genetic polymorphisms are found in distantly related species, having persisted across multiple speciation events. (source) It is widely known that considerable genetic overlap exists between human populations, even those that are geographically distant from each other and quite different physically. You probably learned in BIO101 that genetic variation is much greater... Read More ...
Cruchaga C, Graff C, Chiang HH, Wang J, Hinrichs AL, Spiegel N, Bertelsen S, Mayo K, Norton JB, Morris JC, Goate AM (2011). Arch Neurol, 68(5):581-6. PMCID:3090529
Ulrich, CM; Neuhouser, M; Liu, AY; Boynton, A; Gregory, JF; Shane, B; James, SJ; Reed, MC; Nijhout, HF, Mathematical modeling of folate metabolism: predicted effects of genetic polymorphisms on mechanisms and biomarkers relevant to carcinogenesis., Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, vol. 17 no. 7 (July, 2008), pp. 1822-1831, ISSN 1055-9965 [18628437], [doi] [abs] ...
Antibody-mediated agglutination is the clumping of cells in the presence of antibody, which binds multiple cells together. This enhances the clearance of pathogens. Find the latest research on antibody-mediated agglutination here. ...
Finds sub-sequences or patterns in the sequence and highlights the matching regions. The tool works with standard single letter nucleotide or protein codes including ambiguities and can match Prosite patterns in protein sequences. More... ...
Finds sub-sequences or patterns in the sequence and highlights the matching regions. The tool works with standard single letter nucleotide or protein codes including ambiguities and can match Prosite patterns in protein sequences. More... ...
Genes" v. "environment" is a false dichotomy (but saying this in no way implies that polymorphisms can predict complex behavior). The gene after all, has to be transcribed, and once we acknowledge that then we are going to need to know, e.g., cellular/physiological factors influencing the transcription of the gene (e.g., epigenetic state of the gene to be transcribed), what cellular physiological factors influence which form of agiven protein synthesized by the cell from the gene (e.g., alternative splicing), what processes influence the manner in which that protein is transferred out of the cell in which it is produced, what homeostatic mechanisms regulate the relevant protein at the relevant level in the relevant tissue (e.g., even if a polymorphism does enable "faster transcription" of a protein by the cell, that in no way automatically translates to more of that protein, since homeostatic mechanisms may serve to counteract any perceived protein or hormonal imbalances. All of these are ...
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Impact of frequent natural polymorphisms at the protease gene on the in vitro susceptibility to protease inhibitors in HIV-1 non-B subtypes ...
UCL Discovery is UCLs open access repository, showcasing and providing access to UCL research outputs from all UCL disciplines.
TY - JOUR. T1 - Efficiency of reduced primer selectivity and bulked DNA analysis for the rapid detection of AFLP polymorphisms in a range of crop species. AU - van Treuren, R.. PY - 2001. Y1 - 2001. U2 - 10.1023/A:1004003121622. DO - 10.1023/A:1004003121622. M3 - Article. VL - 117. SP - 27. EP - 37. JO - Euphytica. JF - Euphytica. SN - 0014-2336. ER - ...
Yep, I am currently trying to get my head around what I should do now that Ive got my 23andme results. I was hoping it would be simple (silly me). You...
Plasma monitoring for TCAs is advisable, because of plasma-reponse relations, genetic polymorphism and under or overdosing.[1] ...
Published data on the association between the MUC1 rs4072037A , G polymorphism and gastric cancer (GCa) risk were inconclusive. To derive a more precise estimation of the association, we conducted a large GCa study of 1,124 ...
Salusin-alpha (Human) 4417-s 0.1 mg | 90.00 EURSer - Gly - Ala - Leu - Pro - Pro - Ala - Pro - Ala - Ala - Pro - Arg - Pro - Ala - Leu - ...
TY - JOUR. T1 - Angiotensin-converting enzyme insertion/deletion polymorphism and systemic lupus erythematosus. T2 - A metaanalysis. AU - Lee, Young Ho. AU - Rho, Young Hee. AU - Choi, Seong Jae. AU - Ji, Jong Dae. AU - Song, Gwan Gyu. PY - 2006/4. Y1 - 2006/4. N2 - Objective. To explore whether insertion (1) and deletion (D) polymorphisms within intron 16 of the angiotensin-converting enzyme (ACE) gene confer susceptibility to systemic lupus erylhematosus (SLE) and lupus nephritis (LN). Methods. We surveyed studies of ACE 1/D polymorphism and SLE using Medline and manual searches. We conducted a metaanalysis of the DD genotype (recessive effect). DD and D1 genotype (dominant effect), and D allele of the ACE overall and in each ethnic population. We performed a meta-analysis of ACE 1/D polymorphism in SLE and LN. Results. Thirteen comparison studies were included in our metaanalysis consisting of 1411 patients with SLE and 1551 controls. We found no association of ACE 1/D polymorphism with SLE ...
Results of the present study of white children confirm the previously described association of the ACE gene I/D polymorphism with serum ACE observed in white adults7 : The level of ACE activity was significantly higher in the white children with D alleles than with I alleles, whereas the level of ACE activity was intermediate in those who were heterozygous. On the other hand, in the black children, no association of the I/D polymorphism with serum ACE activity was found. There was thus a distinctly different association of the ACE gene polymorphism with the regulation of serum ACE activity in white and black children. Although in the present study there were fewer black subjects, especially in the II group, for the following reasons we feel that the absence of a significant association in blacks was not secondary to the smaller number of subjects. First, there was a significant interaction of race with the relationship of genotype to serum ACE activity (P=.02). Second, a power analysis indicated ...
TY - JOUR. T1 - Serotonin transporter gene polymorphism and its association with bipolar disorder across different ethnic groups in Malaysia. AU - Mohamed Saini, Suriati. AU - Nik Jaafar, Nik Ruzyanei. AU - Sidi, Hatta. AU - Midin, Marhani. AU - Mohd Radzi, Azizah. AU - Abdul Rahman, Abdul Hamid. PY - 2014/1. Y1 - 2014/1. N2 - Objectives The risk variants have been shown to vary substantially across populations and a genetic study in a heterogeneous population might shed a new light in the disease mechanism. This preliminary study aims to determine the frequency of the serotonin transporter gene polymorphism (5-HTTLPR) in the three main ethnic groups in Malaysia and its association with bipolar disorder. Methods This is a candidate gene association study of randomly selected forty five unrelated bipolar disorder probands and sixty six controls. Diagnosis was evaluated using the Mini International Neuropsychiatric Interview (M.I.N.I). The control group consisted of healthy volunteers without ...
Angiotensin I-converting enzyme (ACE), which plays an important role in blood pressure regulation, and methylenetetrahydrofolate reductase (MTHFR) involved in homocysteine metabolism belong to a large group of polypeptides which may be potential risk factors for atherosclerosis and coronary artery disease (CAD). To assess whether polymorphisms of the genes encoding these peptides are associated with CAD in Silesian we conducted a study among 68 individuals suffering from CAD (including 52 cases after myocardial infarction), 51 subjects with positive family history of CAD and 111 controls. We analysed the distribution of genotypes and allele frequencies of the insertion/deletion (I/D) polymorphism in the ACE gene using PCR amplification, and the C677→T polymorphism in the MTHFR gene using PCR-RFLP analysis. We found that D allele frequency was significantly higher in CAD patients (61%) than in controls (43%) (P = 0.001, OR = 2.06). The D allele carriers (DD + ID genotypes) were more frequent in ...
TY - JOUR. T1 - A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination. AU - Blouin, J. L.. AU - Christie, D. H.. AU - Gos, A.. AU - Lynn, A.. AU - Morris, M. A.. AU - Ledbetter, D. H.. AU - Chakravarti, A.. AU - Antonarakis, S. E.. PY - 1995. Y1 - 1995. N2 - We have used a half-YAC containing the human chromosome 21 long-arm telomere to clone, map, and characterize a new dinucleotide repeat polymorphism (D21S1575) close to 21qter. This marker is AB - We have used a half-YAC containing the human chromosome 21 long-arm telomere to clone, map, and characterize a new dinucleotide repeat polymorphism (D21S1575) close to 21qter. This marker is UR - http://www.scopus.com/inward/record.url?scp=0029013276&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0029013276&partnerID=8YFLogxK. M3 - Article. C2 - 7668265. AN - SCOPUS:0029013276. VL - 57. SP - 388. EP - 394. JO - American Journal ...
In this international, large-scale, multicenter study from three European populations, we combined a family-based approach and a case-control analysis to analyze the role of several polymorphisms in ACE on DN. We found that DN in patients with type 1 diabetes was associated with the studied polymorphisms in this gene. This association was not limited to the ACE I/D polymorphism. Univariate and haplotype analysis suggested that this association was mainly related to the haplotype that carries the ACE_ID D allele.. In the European Rational Approach for the Genetics of Diabetic Complications (EURAGEDIC) program, we used a research strategy that consists of a candidate gene approach with a case-control design combined with a familial transmission analysis. This strategy to analyze trios with DN probands but also trios with non-DN probands was recently presented as relevant for diabetic kidney disease (30). In the studied populations, the risk for any founder effect is small as a result of the ...
It turns out that phantom limb pain is related to other anomalies such as synesthesia, a mis-wiring of the senses such that stimulation to one sense results in an experience in another (for example, someone may see Monday as red). In all of these cases, there is an overabundance of neural connections in the brain. Genomic polymorphisms prevent these connections from being pruned normally ...
Saha, N.,Tay, J.S.H.,Basair, J.,Talmud, P.J.,Humphries, S.E. (1996). Lack of association of angiotensin-converting enzyme (ACE). Gene insertion/deletion polymorphism with CAD in two Asian populations. Clinical Genetics 50 (3) : 121-125. [email protected] Repository ...
Background The insertion/deletion (ID) polymorphism of the angiotensin-converting enzyme (ACE) gene has been associated with increased coronary heart disease (CHD), although the mechanism of this association is not apparent. We tested the hypothesis that the deletion allele of the ACE gene is associated with insulin resistance. Methods and Results We related ACE genotype to components of the insulin-resistance syndrome in 103 non-insulin-dependent diabetic (NIDDM) and 533 nondiabetic white subjects. NIDDM subjects with the DD genotype had significantly lower levels of specific insulin (DD 38.6, ID 57.1, and II 87.4 pmol · L−1 by ANOVA, P=.011). Non-insulin-treated subjects with the DD genotype had increased insulin sensitivity by HOMA % (DD 56.4%, II 29.4%, P=.027) and lower levels of des 31,32 proinsulin (DD 3.3, II 7.6 pmol · L−1, P=.012) compared with II subjects. There were no differences in prevalence of CHD or levels of blood pressure, serum lipids, or plasminogen activator ...
Objectives: The aims of the study were to identify associations between ACE I/D and MTHFR C677T and AAA. Methods: A retrospective case-control study in which polymerase chain reaction (PCR) methodology was employed to identify associations between ACE I/D and MTHFR C677T polymorphisms and AAA. DNA was extracted from reasonably matched cases and controls after suitable screening for group assignment. There were a total of 1352 subjects genotyped for the MTHFR C677T polymorphism comprising 674 controls and 678 cases. Comparative figures for ACE I/D polymorphism genotyping were 812 and 1107, respectively. All statistical analyses were conducted using R programming software with user-written codes. Results: The ACE II, ID and DD genotype distributions in controls (177, 410 and 225) and cases (218, 529 and 270) were in Hardy-Weinberg Equilibrium (HWE), P=0.21.There was no difference in allele ("I" and "D") distributions between cases and controls (odds ratio(OR),1.001; 95% CI, 0.88-1.14; P =0.98). ...
Patients with insulin-dependent diabetes mellitus (IDDM) are at higher risk of developing osteoporosis. Among the genetic factors related to die development of osteoporosis, a possible association between vitamin D receptor (VDR) gene polymorphism and bone mineral density (BMD) has been described in some populations. We characterized the VDR gene polymorphism in a healthy adult Brazilian population and in a group of patients with IDDM and correlated these findings with densitometric values in both groups. the Brazilian population is characterized by an important racial heterogeneity and therefore is considered an ethnically heterogeneous population. We recruited 94 healthy adult Brazilian volunteers (63 women and 31 men), mean (+/- SD) age 32.4 +/- 6.5 years (range 18-39 years), and 78 patients with IDDM (33 women and 45 men) diagnosed before 18 years of age, mean (+/- SD) age 23.3 +/- 5.5 years (range 18-39 years). VDR genotype was assessed by polymerase chain reaction amplification followed by ...
The fact that θS and QS respond differently to s is crucial to our ability to infer the rate and strength of adaptive substitutions. Previous attempts to infer these parameters on the basis of θS alone (e.g., Wiehe and Stephan 1993) were unable to distinguish between them because the rate and strength are confounded in their effect on the average polymorphism (Equation 12). Adding the QS statistic allows us to disentangle these parameters, because the minimal polymorphism in a window, which appears in QS, is primarily affected by the rate of adaptive sweeps and not by their strength (see derivation and intuition in materials and methods). This is because the minimal polymorphism in a window is expected to appear in close proximity to the location at which the last adaptive substitution has occurred, where even a relatively weak sweep would have driven the polymorphism to zero. Therefore, at the time the sample is taken, the minimal polymorphism in a window depends primarily on the time that ...
P53 can bind to the promoter of miR-34a/b/c, inducing their expression at the transcriptional level. Previous reports have shown that TP-53 and miR-34b/c may play crucial roles in carcinogenesis. We conducted a case-control study to investigate the association between miR-34b/c rs4938723 and TP-53 Arg72Pro polymorphisms and the risk of breast cancer (BC) in Chinese women. We genotyped the two polymorphisms in 228 BC patients and 307 healthy controls using polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing assay. We found that the miR-34b/c rs4938723 CT genotype and C allele were associated with significantly increased risks of BC compared with the TT genotype and T allele (CT vs. TT: OR = 1.81, 95 % CI, 1.24 - 2.65, P = 0.002; C vs. T: OR = 1.36, 95 % CI, 1.06 - 1.74, P = 0.016, respectively). Moreover, a significant association between the cases and controls was also observed in a dominant model (OR = 1.75; 95 % CI, 1.22 - 2.51, P = 0.002). Stratified analysis ...
Thirty-five nucleotide polymorphisms were found in a 21.5-kbp region including the Est6 locus among 42 isoallelic lines extracted from a single natural population of Drosophila melanogaster. The heterozygosity per nucleotide pair was estimated to be 0.010 overall, but was lower in sequences hybridizing to transcripts than in those not hybridizing to transcripts. Eleven of 36 pairwise comparisons among the nine most common polymorphisms showed significant gametic disequilibrium. Four of these polymorphisms were also significantly associated with the major EST6-F/EST6-S allozyme polymorphism. Significant disequilibrium was generally restricted to polymorphisms less than 1-2 kbp apart. Previously reported measures of EST6 activity in virgin adult females proved not to be significantly associated with any of the six most common nucleotide polymorphisms located in the Est6 coding region or the 1.5 kbp immediately 5. However, the 11 haplotypes for five of these polymorphisms that lie in the 1.5-kbp ...
Epistasis is the sensation whereby a single polymorphisms influence on a characteristic depends upon other polymorphisms within the genome. Right here we present that, using advanced computation10 and a gene appearance study style, many cases of epistasis are located between common one nucleotide polymorphisms (SNPs). Within a cohort of 846 people 1062169-56-5 manufacture with 7339 gene appearance levels assessed in peripheral bloodstream, we discovered 501 significant pairwise connections between common SNPs influencing the appearance of 238 genes (< 2.91 10?16). Replication of the connections in two indie data pieces11,12 demonstrated both concordance of path of epistatic results (= 5.56 10?31) 1062169-56-5 manufacture and enrichment of relationship < 0.05/501. Forty-four from the hereditary connections can be found within 2Mb of parts of known physical chromosome connections13 (= 1.8 10?10). Epistatic systems of three SNPs or even more impact the appearance degrees of 129 genes, whereby one ...
Perticone and colleagues used forearm strain gauge plethysmography to assess endothelial function in patients with never-treated hypertension.3 They observed an association between the DD genotype and endothelial dysfunction. In the normotensive control group, however, no association was present. This led them to the conclusion that the ACE polymorphism did not provide the most important component of endothelial dysfunction. Contrary to these results were the findings of Butler and colleagues4 who demonstrated an association between the insertion/deletion and endothelial function in healthy young men.. To our knowledge there are no previous reports on the relation between ACE polymorphism and in vivo epicardial coronary endothelial function. Our results agree with the forearm findings of Butler and colleagues.4 We found an association between the DD genotype and deteriorated endothelial function in both normal and dilated coronary artery segments in patients with few risk factors. The dominant ...
The combination of tumour necrosis factor-alpha-308A and interleukin-10-1082G gene polymorphisms and increased serum levels of related cytokines: susceptibility to vitiligo ...
Several studies have suggested that Insertion/Deletion polymorphism of ApoB gene is associated with obesity, dyslipidemia, diabetes and coronary heart disease (CHD).
This study assessed the influence of the rs738409 polymorphism of the PNPLA3 gene on hepatic steatosis and the degree of fibrosis among individuals diagnosed with chronic hepatitis C and observed that the prevalence rates of genotypes CC, CG, and GG of the PNPLA3 polymorphism were 45.9%, 21.7%, and 32.4%, respectively. We also observed that the GG genotype of the same polymorphism was associated with steatosis and advanced fibrosis. We also found an association between TM6SF2 polymorphism and advanced fibrosis. Our additional analysis reinforced the finding that the carriers of the rs847309 polymorphism genotype GG of the PNPLA3 gene are at increased risk of developing hepatic steatosis.. The influence of the rs738409 polymorphism on liver fat deposition was initially demonstrated in patients with NAFLD [5, 15, 16]. Sookoian et al. [16] also described the association between the polymorphism and fibrosis intensity, including nonalcoholic steatohepatitis. Later, this polymorphism was revealed to ...
Author SummaryComputational techniques are used in biology to prioritize DNA sequence variants (or polymorphisms) that may be responsible for population diversity and the manifestation of species-specific traits. Predominantly, they have been used to predict the class of polymorphisms that alter protein function through allele-specific changes to amino acid composition. However, polymorphisms that alter gene expression have been increasingly implicated in manifestation of similar traits. Prioritization of these polymorphisms is challenged, though, by the lack of knowledge regarding the mechanisms of gene regulation and the paucity of characterized regulatory polymorphisms. Our work attempts to address this issue by assembling a collection of regulatory polymorphisms from the existing literature. Furthermore, we use this collection to investigate and prioritize various properties that may be important for identifying novel regulatory polymorphisms.
Discussion. In this study, we performed a meta-analysis to assess the correlation between leptin receptor Gln223Arg and Pro1019Pro polymorphisms and OSAS risk. The distributions of cases and controls were not indicated in the original data; however, the p value (0.234) and the numbers of patients and controls were mentioned in the original articles. We deduced the possible number by Fishers exact test.24 The results are shown in Table 2. The analysis revealed no correlation between Gln223Arg polymorphisms and OSAS risk; whereas, Pro1019Pro polymorphisms are associated with OSAS risk in the Chinese population. In addition, five different models (Allele, Dominant, Heterozygote, Homozygote and Recessive) were performed in all SNPs. A subgroup analysis by ethnicities was also performed. Our results indicate that there is no significant correlation between Gln223Arg allele and OSAS risk. However, a significant correlation with OSAS risk in the Caucasian population, but not in the Chinese population, ...
TY - JOUR. T1 - Common germline polymorphisms associated with breast cancer-specific survival. AU - Pirie, Ailith. AU - Guo, Qi. AU - Kraft, Peter. AU - Canisius, Sander. AU - Eccles, Diana M.. AU - Rahman, Nazneen. AU - Nevanlinna, Heli. AU - Chen, Constance. AU - Khan, Sofia. AU - Tyrer, Jonathan. AU - Bolla, Manjeet K.. AU - Wang, Qin. AU - Dennis, Joe. AU - Michailidou, Kyriaki. AU - Lush, Michael. AU - Dunning, Alison M.. AU - Shah, Mitul. AU - Czene, Kamila. AU - Darabi, Hatef. AU - Eriksson, Mikael. AU - Lambrechts, Dieter. AU - Weltens, Caroline. AU - Leunen, Karin. AU - van Ongeval, Chantal. AU - Nordestgaard, Børge G.. AU - Nielsen, Sune F.. AU - Flyger, Henrik. AU - Rudolph, Anja. AU - Seibold, Petra. AU - Flesch-Janys, Dieter. AU - Blomqvist, Carl. AU - Aittomäki, Kristiina. AU - Fagerholm, Rainer. AU - Muranen, Taru A.. AU - Olsen, Janet E.. AU - Hallberg, Emily. AU - Vachon, Celine M. AU - Knight, Julia A.. AU - Glendon, Gord. AU - Mulligan, Anna Marie. AU - Broeks, ...
Polymorphisms in Epidermal Growth Factor Receptor (EGFR) gene may influence EGFR production and/or activity, thereby modulating susceptibility to lung cancer. To test this hypothesis, we investigated the association between polymorphisms in the EGFR gene and the risk of lung cancer in a Korean population. We first examined the frequencies of 39 candidate polymorphisms in the EGFR gene in 27 healthy Korean individuals. After then, we genotyped five polymorphisms (127378C|T, 142285G|A, 162093G|A, 181946C|T and 187114T|C) that have variant allele frequencies greater than 10%, in 582 lung cancer patients and in 582 healthy controls. Of the 5 polymorphisms, the 181946C|T genotype distribution was significantly different between the cases and controls (P = 0.04). Compared with the 181946 CC + CT genotype, the 181946 TT genotype was associated with a significantly decreased risk of lung cancer (adjusted OR = 0.63, 95% CI = 0.45-0.88, P = 0.007). When the analyses were stratified by smoking status, the
Cancer predisposition by the cooperation of genetic variants, such as single nucleotide polymorphisms (SNPs), may be of much greater significance to public health than previously appreciated. Functional polymorphisms are genetic variants that alter gene function. Meta-analyses associate many functional polymorphisms with cancer risk. The MDM2 SNP309G allele is a cancer-associated functional polymorphism positioned in the MDM2 P2 promoter that enhances transcription factor SP1 binding, resulting in elevated levels of MDM2 concomitant with decreased p53 tumor-suppressor activity. Mdm2SNP309G/G mice are more prone to spontaneous tumor formation than Mdm2SNP309T/T mice, providing direct evidence for the impact of this SNP on tumor development. We examined the impact of SNP309 on cancer risk in response to environmental factors by treating SNP309 mice with ionizing radiation, UVB, or Benzo(a)pyrene. The results show that SNP309G cooperates with ionizing radiation to exacerbate tumor development.
By Chaudhry, A S Kochhar, R; Kohli, K K Proton pump inhibitors (PPIs) are extensively metabolized in the liver by CYP2C19, that demonstrates genetic polymorphism with 21 mutant alleles. The subjects can be divided into 2 groups with respect to CYP2C19 phenotypes viz., extensive metabolizers (EMs) and poor metabolizers (PMs) of PPIs. This division results in marked interindividual variations in the pharmacokinetics and pharmacodynamics of PPIs in the population. Intragastric pH values and the plasma concentration of PPIs after oral ingestion were significantly lower in EMs namely normal homozygotes (CYP2C19*1/*1) and heterozygotes (CYP2C19*1/*X) compared to PMs namely mutant homozygotes (CYP2C19*X/*X) where X represents the mutant allele. Hence, association has been found between the genetic polymorphism of CYP2C19 and therapeutic response to PPIs. CYP2C19 polymorphism affected eradication of Helicobacter pylori using diferent PPI based eradication therapies as PM patients demonstrated ...
BioMed Research International is a peer-reviewed, Open Access journal that publishes original research articles, review articles, and clinical studies covering a wide range of subjects in life sciences and medicine. The journal is divided into 55 subject areas.
DEB025 (alisporivir) is a synthetic cyclosporine with inhibitory activity against human immunodeficiency virus type-1 (HIV-1) and hepatitis C virus (HCV). It binds to cyclophilin A (CypA) and blocks essential functions of CypA in the viral replication cycles of both viruses. DEB025 inhibits clinical HIV-1 isolates in vitro and decreases HIV-1 virus load in the majority of patients. HIV-1 isolates being naturally resistant to DEB025 have been detected in vitro and in nonresponder patients. By sequence analysis of their capsid protein (CA) region, two amino acid polymorphisms that correlated with DEB025 resistance were identified: H87Q and I91N, both located in the CypA-binding loop of the CA protein of HIV-1. The H87Q change was by far more abundant than I91N. Additional polymorphisms in the CypA-binding loop (positions 86, 91 and 96), as well as in the N-terminal loop of CA were detected in resistant isolates and are assumed to contribute to the degree of resistance. These amino acid changes may
Background: Inflammatory bowel disease, an autoimmune disease, has two clinical manifestations including Crohns disease and ulcerative colitis (UC). IL-17 has been the target of intensive research in autoimmune diseases. The influence of Toll like receptor 4 (TLR-4) gene polymorphisms on IL-17 production has also been revealed in UC patients and tissue inflammation in mice. Objectives: To investigate the association between the TLR-4 gene polymorphisms, Asp299Gly and Thr399Ile and IL-17 serum levels with ulcerative colitis. Additionally, we aimed to study modulation effects of forenamed gene polymorphisms on IL-17 serum levels in UC patients and controls. Methods: A total of 256 healthy controls and 85 UC patients enrolled in our study. DNA was extracted and PCR-RFLP technique was employed to determine Asp299Gly and Thr399Ile polymorphisms in TLR-4 gene and IL-17 serum levels were measured by ELISA method. Results: There was no significant difference between the frequency of Asp299Gly A|G and Thr399Ile
Synonyms for restriction fragment length polymorphism at Thesaurus.com with free online thesaurus, antonyms, and definitions. Dictionary and Word of the Day.
Abstract. We investigated the association between interleukin-18 (IL-18) polymorphisms and the susceptibility and clinicopathological state of hepatocellular carcinoma (HCC). In total, 901 participants, including 559 healthy controls and 342 patients with HCC, were recruited. The allelic discrimination of -607A/C (rs1946518) and -137G/C (rs187238) polymorphisms of IL-18 was assessed through real-time polymerase chain reaction by performing the TaqMan assay. The IL-18 -137G/C polymorphism but not the -607A/C polymorphism showed a significant association with the risk of HCC. Participants carrying the IL-18 -137 polymorphism with heterozygous G/C and homozygous CC genotypes showed a 1.987-fold increase (95% CI = 1.301-3.032; p = 0.001) in the risk of HCC compared with those homozygous for wild-type G/G. The 342 patients with HCC carrying the IL-18 -137G/C polymorphism were positive for hepatitis B virus (HBV) infection with an adjusted odds ratio of 1.668. Moreover, the 142 HBV positive patients ...
Abstract. Objective The adiponectin gene (ADIPOQ) has been suggested to be associated with the pathogenesis of colorectal cancer (CRC). However, the results have been inconsistent. In this study, we performed a meta-analysis to investigate the association between adiponectin polymorphisms and CRC risk.. Methods All eligible case-control studies published up to March 2013 were identified by searching PubMed, Web of Science and CNKI. Effect sizes of odds ratio (OR) and 95% confidence interval (95% CI) were calculated by using a fixed- or random-effect model.. Results A total of 9 case-control studies were included, Of those studies, there were eight studies (2024 cases and 2777 controls) for rs1501299G/T polymorphism, five studies (1401 cases and 1691 controls) for rs2241766T/G polymorphism, five studies (2945 cases and 3361 controls) for rs266729C/G polymorphism, three studies (1221 cases and 1579 controls) for rs822395A/C polymorphism and three studies (1222 cases and 1575 controls) for ...
The distribution of genotypes for Arg399Gln XRCC1 polymorphism in ovarian cancers vs. controls was: 58.0% vs. 38.5% for Arg/Arg, 32.0% vs. 26.9% for Arg/Gln, and 10.0% vs. 34.6% for Gln/Gln genotype, respectively. We found that XRCC1 Arg allele is associated with ovarian cancer risk (OR= 2.635 for Arg vs. Gln with 95% CI of 1.526 to 4.550). The Arg allele exerts its effect on increased risk for ovarian cancer development in dominant model (Arg/Arg plus Arg/Gln vs. Gln/Gln) with OR (and 95 % CI) of 4.765 (1.692 to 13.414) as well as in recessive model (Arg/Arg vs. Arg/Gln plus Gln/Gln) with OR (and 95 % CI) of 2.210 (1.072 to 4.555). ...
Human Leukocyte antigen -G is an immunosuppressive protein with multiple functions. The 14bp insertion / deletion in exon-8 of HLA-G gene have been shown to play an important role in HLA-G mRNA stability as well as expression level; and can be correlated with its immunosuppressive function. The role of HLA-G in various cancers has already been demonstrated. Cancerous cells start expressing HLA-G which in turn provides a shield for various immune responses. In the present study we have tested the possibility of the role of 14bp insertion / deletion polymorphism of HLA-G in cancer progression and susceptibility. We have genotyped 59 cancer samples (26 benign and 33 malignant) and 79 matched controls for 14bp polymorphism of HLA-G. Data showed increase of +14bp/-14bp and −14bp/-14bp genotype with both benign and malignant cancer. We observed significantly higher frequency of +14bp/+14bp genotype in control (p=0.01). This is consistent with both benign and malignant tumors as well as cancer types ...
INTRODUCTION: Interleukin 18 (IL-18), which is an important interferon γ inducer, regulates the expression of the proinflammatory cytokine interferon γ and the antituberculosis response.. OBJECTIVE: Our goal was to investigate polymorphisms of the IL-18 gene promoter and determine whether polymorphism of the IL-18 gene promoter is a potential host-susceptibility factor in tuberculosis in Chongqing, China.. METHODS: A total of 123 patients (including 91 children and 32 adults) with tuberculosis and 249 normal controls (including 167 children and 82 adults) were selected randomly. The polymorphisms at positions -607A/C and -137G/C in promoter of the IL-18 gene were analyzed by using polymerase chain reaction with sequence-specific primers.. RESULTS: The allele and genotype frequencies of IL-18/-607 gene polymorphisms were similar in patients with tuberculosis and in controls. However, frequencies of the -137GG, GC, and CC genotypes were 67.9%, 28.5%, and 3.6%, respectively, in controls and ...
In the present study, we identified and characterized 2 common polymorphisms in the promoter region of the MMP-7 gene that are functional in vitro and seem to influence coronary arterial dimensions in a preliminary study of hypercholesterolemic patients with manifest CAD. Hypercholesterolemic patients carrying the G allele at position −181 had smaller reference luminal diameters before PTCA than did patients homozygous for the A allele. Furthermore, carriers of the T allele at position −153 had smaller reference diameters before PTCA than did patients homozygous for the C allele. In vitro in the human monocyte/macrophage cell line U937, the −81 A/G and the −153 C/T polymorphisms influenced the binding of nuclear proteins. Also, basal promoter activity was higher in promoter constructs harboring the combination of the 2 rare alleles in transient transfection studies.. The finding that the G allele of the −181 A/G and the T allele of the −153 T/C polymorphisms, both of which are ...
Philippine General Hospital, University of the Philippines Manila. Objectives. The highly polymorphic nature of the CYP2D6 gene and its central role in the metabolism of commonly used drugs make it an ideal candidate for pharmacogenetic screening. This study aims to determine the prevalence of CYP2D6 polymorphisms among Filipinos and their association to lung cancer.. Method. Forty seven single nucleotide polymorphisms (SNPs) of the CYP2D6 gene were genotyped from DNA samples of 115 cases with lung cancer and age- and sex-matched 115 controls.. Results. Results show that 18 out of 47 polymorphisms have significant genotypic variability (,1% for at least 2 genotypes). No variant is associated with lung cancer. However, rs1135840, rs16947 and rs28360521, were found to be highly variable among Filipinos.. Conclusion. This study demonstrated that CYP2D6 polymorphisms are present among Filipinos, which, although not found to be associated with lung cancer, can be useful biomarkers for future ...
The present study is the first to examine the relation between CVD and the Notch3 polymorphism. The Japanese population has a higher C allele frequency in T6746C polymorphism than European populations.3 Our study shows that the Notch3 polymorphism is not associated with CVD, even in low risk subjects.. Mutations in the Notch3 gene are missense mutations characteristically leading to the loss or gain of a cysteine residue in one of the EGF-like domains of the protein.3 The abnormal Notch3 allele may encode for a protein product with an abnormal conformation due to disruption of the disulphide bonding of cysteine residues. Five genetic polymorphisms, which lead to amino acid substitutions, have been reported in the coding sequence of Notch 3.3 Among them, the most common polymorphism, T6746C, results in an amino acid dimorphism (Val/Ala) at residue 2223, which is located in the intracellular domain. Because the intracellular domain of Notch3 is thought to be involved in signal transduction,2 this ...
Cytokine Gene Polymorphisms in Iraqi Patients with Viral Hepatitis, 978-3-659-94963-0, 9783659949630, 3659949639, Genetics, Hepatitis is an inflammation of the liver that is most commonly caused by one of the five types of hepatitis viruses; A, B, C, D and E. These types are of a greatest concern because of the burden of illness and death they cause and the potential for outbreaks and epidemic spread worldwide; in particular, types B (HBV) and C (HCV). Therefore, the present study aimed to investigate the association between serum level of five cytokines (IL-2, IL-4, IL-10, TNF-α and IFN-γ) and their gene polymorphisms defined by polymerase chain reaction with sequence specific primers (SSP-PCR) at 11 positions (IL2-330, IL2+166, IL4-1098, IL4-590, IL4+33, IL10-1082, IL10-819, IL10-592, TNF-308, TNF-238 and IFNγ+874) in samples of HBV and HCV infected Iraqi patients, in order to identify specific immunogenetic markers (cytokine SNPs) that may be associated with HBV and HCV infections.
TY - JOUR. T1 - Study of age-association with cytokine gene polymorphisms in an aged Irish population. AU - Ross, Owen A. AU - Curran, Martin D.. AU - Meenagh, Ashley. AU - Williams, Fionnuala. AU - Barnett, Yvonne A.. AU - Middleton, Derek. AU - Rea, I. Maeve. PY - 2003/2/1. Y1 - 2003/2/1. N2 - The release of cytokines is of crucial importance in the regulation of the type and magnitude of the immune response in the elderly. A number of studies have shown different levels of cytokine production in the elderly. In the present study, a range of polymorphisms were chosen within the genes of cytokines (IL-2, IL-6, IL-8, IL-10, IL-12 and IFN-γ) that have been observed at different levels within the elderly and analysed for age-association. No association was observed for the polymorphic cytokine markers and the healthy aged Irish population (or with respect to gender) examined in this study. These findings would suggest that polymorphism of cytokine genes may not play as crucial a role in healthy ...
Diverse polymorphisms have been associated with the predisposition to develop cancer. On fewer occasions, they have been related to the evolution of the disease and to different responses to treatment. Previous studies of our group have associated polymorphisms on genes related to oxidative stress (rs3736729 on GCLC and rs207454 on XDH) and DNA damage repair (rs1052133 on OGG1) with a predisposition to develop breast cancer. In the present work, we have evaluated the hypothesis that these polymorphisms also play a role in a patients survival. A population-based cohort study of 470 women diagnosed with primary breast cancer and a median follow up of 52.44 months was conducted to examine the disease-free and overall survival in rs3736729, rs207454 and rs1052133 genetic variants. Adjusted Cox regression analysis was used to that end. The Kaplan-Meier analysis shows that rs3736729 on GCLC presents a significant association with disease-free survival and overall survival. The polymorphisms rs1052133 on OGG1
MicroRNAs (miRNAs) are small non-coding RNA molecules that play a fundamental role in controlling a variety of biological functions. Emerging evidence has shown that common genetic polymorphisms in miRNAs may be associated with the development of liver cancer; however, several individually published studies showed inconclusive results. This meta-analysis aimed to derive a more precise estimation of the association between functional polymorphisms in miRNAs and susceptibility to liver cancer.
We studied the association of cytotoxic T lymphocyte antigen-4 gene (CTLA4) polymorphisms with the development of type 1 diabetes (T1D) in Korean children and adolescents. A total of 176 Korean subjects (92 females and 84 males) with childhood-onset T1D were studied. The A/G polymorphism at position 49 in CTLA4 exon 1 and the C/T polymorphism at position -318 in the CTLA4 promoter were analyzed by PCR-RFLP methods. The genotype and allele frequencies of the CTLA4 polymorphisms in the T1D patients were not different from those in the controls. These polymorphisms were not associated with the clinical characteristics or the development of autoimmune thyroid disease in the T1D patients. The frequency of the A allele was significantly higher in the patients that did not have two out of the three susceptible HLA-DRB1 alleles, which were DRB1*0301, *0405 and *09012, compared to the controls (P,0.05). These results suggest that CTLA4 polymorphisms do not directly confer any susceptibility to T1D. ...
FERREIRA, Alessandro Clayton Souza et al. Type 1 diabetes susceptibility determined by HLA alleles and CTLA-4 and insulin genes polymorphisms in Brazilians. Arq Bras Endocrinol Metab [online]. 2009, vol.53, n.3, pp.368-373. ISSN 1677-9487. http://dx.doi.org/10.1590/S0004-27302009000300012.. INTRODUCTION:Type 1A diabetes mellitus (T1ADM) is a multifactorial disease in which genetic and environmental aspects are important to its development. The association of genetic variations with disease has been demonstrated in several studies; however, the role of some gene loci has not yet been fully elucidated. OBJECTIVE:To compare the frequency of HLA alleles and polymorphism in CTLA-4 and insulin genes in Brazilians with T1ADM and individuals without the disease, as well as to identify genetic markers that are able to discriminate between diabetic and non-diabetic individuals. METHODS: The presence of HLA DQB1, DQA1 and DRB1 alleles, as well as the -2221 MspI polymorphism in the insulin gene and 49 A/G ...
PURPOSE: The association between common functional polymorphisms from the CYP17, CYP19, CYP1B1, and COMT genes involved in the estrogen metabolism and the risk of prostate carcinoma was evaluated. PATIENTS AND METHODS: The study investigated 1,983 white French men (1,101 patients with prostate cancer and 882 healthy controls) aged between 40 and 98 years. The different alleles and genotypes were analyzed according to case-control status, aggressiveness pattern of the tumors, age at onset, and family history of cancers. RESULTS: The VV (high activity) genotype of the V432L polymorphism from CYP1B1 (odds ratio [OR] = 1.36; 95% CI, 1.03 to 1.79; P = .031), and the long allele (| 175 bp) of the TTTA repeat from CYP19 (OR, 1.26; 95% CI, 1.08 to 1.47; P = .003) were significantly associated with the risk of prostate cancer. An additive effect was observed when we combined the two at-risk alleles (OR = 1.63; 95% CI, 1.24 to 2.13; P | .001). The association was stronger for the CYP1B1 VV genotype (OR = 1.55; 95
Background: The development of cancer results from an imbalance between exposure to carcinogens and the capacity of various enzyme systems engaged in activation or in the detoxification of xenobiotics. The aim of the present study is to investigate the association of GSTP1, GSTM1 and GSTT1 gene polymorphisms in susceptibility to Chronic Myeloid Leukaemia (CML). Methods: A total of 200 CML patients and 100 controls were enrolled in a case-control study with GSTM1 and GSTT1 analysis with PCR and GSTP1 analysis with PCR-RFLP. Results: The GSTT1 null genotype was significantly higher among CML patients suggesting that this genotype is associated with an increased risk of CML. It was found in 42% of cases as compared with 21% of the controls, (OR =2.78, 95% CI: 1.59 - 4.85; p-value =0.000). The presence of the GSTT1 genotype may thus be considered a protective factor for CML. The frequency of individuals carrying GSTM1 null genotype was slightly higher in the control group but this difference was not
Results 1. Genotypes and frequencies of P2Y12 gene polymorphisms (rs9859552) in control group and coronary heart disease group both were GG genotype.. 2. Genotypes and frequencies of P2Y12 gene polymorphisms (rs6801273) in control group and coronary heart disease group were as below: CC genotype 10.0% vs 13.7%; CT genotype 40.0% vs 44.5%; TT genotype 50.0% vs 41.8%. There was no significant difference between control group and coronary heart disease group (p=0.33).. ...
BackgroundThe Bcl-2-associated X protein (Bax) is a proapoptotic member of the Bcl-2 family known to be activated and upregulated during apoptosis. Single nucleotide polymorphisms (SNPs) in Bax promoter may participate in the process of carcinogenesis by altering its own expression and the cancer related genes. Bax-248G|A polymorphism has been implicated to alter the risk of cancer, but the listed results are inconsistent and inconclusive. In the present study, we performed a meta-analysis to systematically summarize the possible association of this polymorphism with the risk of cancer. MethodologyWe conducted a search of case-control studies on the associations of Bax-248G|A polymorphism with susceptibility to cancer in Pub Med, Science Direct, Wiley Online Library and hand search. Data from all eligible studies based on some key search terms, inclusion and exclusion criteria were extracted for this meta-analysis. Hardy-Weinberg equilibrium (HWE) in controls, power calculation, heterogeneity analysis
Results: Significant associations were detected between the IL-18 rs187238(G/C) polymorphism and chronic leukemia. A higher prevalence of the C allele was found in CML cases with respect to controls. The GC heterozygous and CC homozygous genotypes were associated with risk of CML when compared with controls. However, prevalence of the C allele was not significantly high in CLL cases with respect to controls. There was only a significant difference between the homozygous CC genotype of CLL patients and the control group; thus, it can be concluded that the CC genotype may be associated with the risk of CLL. Based on our data, there were no significant associations between the IL-18 rs61667799(G/T), rs5744227(C/G), or rs5744228(A/G) polymorphisms and CLL or CML ...
TY - JOUR. T1 - Genetic polymorphisms and prediction of chronic post-surgical pain after hysterectomy-a subgroup analysis of a multicenter cohort study. AU - Hoofwijk, Daisy M. N.. AU - van Reij, Roel R. I.. AU - Rutten, Bart P. F.. AU - Kenis, Gunter. AU - Theunissen, Maurice. AU - Joosten, Elbert A.. AU - Buhre, Wolfgang F.. AU - van den Hoogen, Nynke J.. PY - 2019/9. Y1 - 2019/9. KW - chronic pain. KW - genetic. KW - hysterectomy. KW - pain. KW - polymorphisms. KW - post-operative. KW - CATECHOL-O-METHYLTRANSFERASE. KW - PERSISTENT BREAST PAIN. KW - POSTOPERATIVE PAIN. KW - RISK-FACTORS. KW - NEUROPATHIC PAIN. KW - COMT. KW - ASSOCIATION. KW - WOMEN. KW - QUESTIONNAIRE. KW - PREVALENCE. U2 - 10.1111/aas.13413. DO - 10.1111/aas.13413. M3 - Article. VL - 63. SP - 1063. EP - 1073. JO - Acta Anaesthesiologica Scandinavica. JF - Acta Anaesthesiologica Scandinavica. SN - 0001-5172. IS - 8. ER - ...