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 ...
title: RANTES gene promoter polymorphisms are associated with bronchial hyperresponsiveness in Korean children with asthma, doi: 10.1007/s00408-007-9049-3, category: Article
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 ...
OBJECTIVE: Oxidative stress is implicated in hypertension and the NADPH oxidase systems constitute the main source of superoxide in vascular wall. We searched for new polymorphisms within the CYBA promoter, the human gene that encodes the p22phox protein, and studied their potential association with essential hypertension. DESIGN: A case-control study in a random sample of the general population. METHODS: CYBA polymorphisms were determined by restriction fragment length polymorphism and allelic discrimination. NADPH oxidase activity was quantified in phagocytic cells by chemiluminescence. RESULTS: We identified three novel polymorphisms, at positions -852, -675 and -536 from the ATG codon. Only the -675(A/T) polymorphism associated with essential hypertension. The prevalence of the TT genotype and the T allele frequency were significantly higher (P < 0.05) in hypertensives than in normotensives. Furthermore, TT hypertensives exhibited higher (P < 0.05) systolic blood pressure values than TA/AA ...
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
Collectively, these findings show that the Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to an overactive NLRP3 inflammasome. The option of IL-1β blockade may be considered in patients with chronic inflammatory disorders that are unresponsive to conventional treatments.
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).
Important candidate genes involved in the ovarian response to exogenous FSH are the estrogen receptor genes (ESRs), since the effects of estrogens on follicle growth, maturation and oocyte release. It is known that some markers of ovarian stimulation can help to personalize the treatment, adjusting the dose of exogenous rFSH, thus preventing excessive wear of the patient. Inspired on this information we aimed to analyze four different polymorphisms in the estrogen receptor genes ESR1: rs2234693/T-397C (PvuII) and rs9340799/A-351G (Xbal) and ESR2: rs4986938/G1082A (RsaI) and rs1256049/A + 1730G (AluI), and their association with assisted reproduction outcomes in Brazilian women that underwent in vitro fertilization (IVF). A cross-sectional study was performed involving 136 infertile women less than 39 years of age with normal ovarian reserve. Patients were divided according to the same COH protocol for statistical analysis. The Taqman assay was used for PvuII and XbaI of ESR1, and RsaI and AluI of ESR2
TY - JOUR. T1 - Biochemical analysis of the human DMC1-I37N polymorphism. AU - Hikiba, Juri. AU - Takizawa, Yoshimasa. AU - Ikawa, Shukuko. AU - Shibata, Takehiko. AU - Kurumizaka, Hitoshi. PY - 2009/1. Y1 - 2009/1. N2 - The DMC1 protein, a meiosis-specific DNA recombinase, promotes homologous pairing and strand exchange. The I37N single nucleotide polymorphism of the human DMC1 protein was reported as a result of human genome sequencing projects. In this study, we purified the human DMC1-I37N variant, as a recombinant protein. The DMC1 protein is known to require DNA for efficient ATP hydrolysis. By contrast, the DMC1-I37N variant efficiently hydrolyzed ATP in the absence of DNA. Like the conventional DMC1 protein, the DMC1-I37N variant promoted strand exchange, but it required a high Ca2+ concentration (4-8 mm), a condition that inactivates the strand-exchange activity of the conventional DMC1 protein. These biochemical differences between the DMC1 and DMC1-I37N proteins suggest that the ...
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.
Prostate cancer cells were transfected with plasmids [empty plasmids, wild-type pcDNA3.1-p53 (V/V), mutant type pcDNA3.1- p53 (G/G)] to analyze the effect of p53 gene polymorphisms on the proliferation, cycle, and apoptosis of prostatic cancer cells. Empty plasmids containing wild-type pcDNA3.1-p53 (V/V) and mutant type pcDNA3.1- p53 (G/G) were used to transfect PC3 and LNCaP cells, respectively. Cell proliferation was detected at 0, 24, 48, and 72 h using the MTT method. Cells were collected at 24 and 72 h.
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.
You searched for: Author Jiang, Gaofeng Remove constraint Author: Jiang, Gaofeng Author Zhang, Haijun Remove constraint Author: Zhang, Haijun Author Liu, Hang Remove constraint Author: Liu, Hang Type Articles Remove constraint Type: Articles Subject Genomics Remove constraint Subject: Genomics Subject Genetic polymorphisms Remove constraint Subject: Genetic polymorphisms ...
You searched for: Author Zhang, Haijun Remove constraint Author: Zhang, Haijun Author Liu, Hang Remove constraint Author: Liu, Hang Type Articles Remove constraint Type: Articles Language English Remove constraint Language: English Subject Genetic polymorphisms Remove constraint Subject: Genetic polymorphisms Subject Leukemia Remove constraint Subject: Leukemia ...
Numerous published studies have suggested that there surely is association between heme oxygenase-1 (HO-1) gene polymorphisms and cardiovascular system disease (CHD) or restenosis (RS) following percutaneous coronary intervention (PCI). 95%CIValueOR and 95%CIValueOR and 95%CIValue4332347570.915(0.842, 0.995)0.0380.869(0.760, 0.994)0.0410.907(0.788, 1.045)0.1770.958(0.826, 1.110)0.5670.792(0.663, 0.946)0.010 Open up in another window Open up in another window Figure 2 Meta-analysis of the partnership between your (GT)n polymorphism in the HO-1 gene and CHD risk for the recessive model (SS/SL+LL) Open in another window Figure 3 Meta-analysis of the partnership between your (GT)n polymorphism in the HO-1 gene and CHD risk for the dominant model (SS+SL/LL) Open in another window Figure 4 Meta-analysis of the partnership between your (GT)n polymorphism in the HO-1 gene and CHD risk for the co-dominant model (SL/LL) The next subgroup analysis was conducted regarding to ethnicity. The set-results model ...
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;
The PDF file you selected should load here if your Web browser has a PDF reader plug-in installed (for example, a recent version of Adobe Acrobat Reader).. Alternatively, you can also download the PDF file directly to your computer, from where it can be opened using a PDF reader. To download the PDF, click the Download link below.. If you would like more information about how to print, save, and work with PDFs, Highwire Press provides a helpful Frequently Asked Questions about PDFs.. ...
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- ...
The aim of the present study was to evaluate the effects on the susceptibility to colorectal cancer (CRC) of genetic polymorphisms in P-glycoprotein (PGP) and the metabolic enzymes cytochrome P450 1A2 (CYP1A2) and flavin-containing monooxygenase 3 (FMO3). We analyzed five single-nucleotide polymorph …
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 ...
Fingerprint Dive into the research topics of The roles of stromelysin-1 and the gelatinase B gene polymorphism in stable angina. Together they form a unique fingerprint. ...
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 ...
In patients with a genetic predisposition, associations of the mutant variantsArg25Pro of the TGFb1 gene, A-8202G of the MMP9 gene and MMP1 1607G (9.6%),associations of the mutations of the Arg25Pro gene of the TGFb1 gene, and A-8202G ofthe MMP9 gene (5.8%) are mainly detected, associations of mutations of Arg25Pro genesof TGFb1 and MMP1 1607G (3.8%), associations of mutations of A-8202G genes ofMMP9 and MMP1 1607G (15.4%) of the examined patients with photo-aging.
We investigated the relationship between the distribution of the IL-1RN, TNF-beta and IL-4 polymorphism and the clinical features of bladder cancer. ...
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 , ...
Sequence variants in the TLR4 and TLR6-1-10 genes and prostate cancer risk. Results based on pooled analysis from three independent studies. [PMID 20721625] Combined effect of miR-146a rs2910164 G/C polymorphism and Toll-like receptor 4 +3725 G/C polymorphism on the risk of severe gastric atrophy in Japanese. [PMID 20977567] Polymorphism in 3-untranslated region of toll-like receptor 4 gene is associated with protection from hepatitis B virus recurrence after liver transplantation. [PMID 21403649] Association of polymorphisms in the TLR4 gene with the risk of developing neutropenia in children with leukemia. [PMID 21553150] Sequence variants of Toll-like receptor 4 (TLR4) and the risk of prostate cancer in Korean men. [PMID 22661708 ...
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*. ...
Genetic variations in human interleukin-1 (IL-1) genes are known to be involved in inflammatory disorders. The rs17561 and rs1143634 polymorphisms of IL-1α and IL-1β, respectively, have been increasingly recognized as important regulators in the development of periodontitis. However, the existence of a specific association remains controversial. Therefore, we performed a meta-analysis to explore the relationship between IL-1 polymorphism and periodontitis risk. ...
TY - JOUR. T1 - Angiotensin-converting enzyme gene polymorphism in patients with psoriatic arthritis. AU - Al-Awadhi, Adel M.. AU - Hasan, Eman A.. AU - Sharma, Prem. AU - Haider, M. Zafaryab. AU - Al-Saeid, Khaled. PY - 2007/10/1. Y1 - 2007/10/1. N2 - To investigate the frequency of angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism genotypes in adults with psoriatic arthritis (PsA), a heterogeneous chronic disease with autoimmune pathology. ACE gene I/D polymorphism influences the plasma and tissue levels of ACE and has an involvement in inflammatory mechanism. The frequency of ACE gene I/D polymorphism genotypes was determined in 51 adults with PsA from Kuwait, and compared to that in 100 ethnically matched healthy controls using polymerase chain reaction. The distribution of ACE I/D polymorphism and allele frequencies in PsA patients were not significantly different from controls (P , 0.05). Further analyses of PsA patients showed that ACE I/D gene polymorphism ...
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 ...
ABSTRACT. The study of ACE gene I/D polymorphism has been carried out in elderly, senile and long-liver patients with coronary heart disease (CHD) taking into account their nationality, age and sex. It has been recorded that with the increase of age there is a decrease in the frequency of the genotype ACE*I/*I and a tendency of increase in the frequency of the genotype ACE*D/*D. A comparative analysis of genotypes АСЕ*D/*D and АСЕ*D/*I has showed sex differences in the frequency of homozygous genotype detection. Left ventricular hypertrophy can be observed significantly more often among carriers of genotype ACE*I/*I established by Sokolow-Lyon ECG signs. Association analysis of ACE gene I/D polymorphism has registered significant differences in BMI and blood lipid parameters.. KEYWORDS. CHD; Geriatric Age; Risk Factors; ACE Gene; Non-Indigenous and Yakut Patients. 1. INTRODUCTION. Republic of Sakha (Yakutia) is the biggest region in the Russian Federation with the territory of over 3 ...
TY - JOUR. T1 - Influence of the ACE gene insertion/deletion polymorphism on insulin sensitivity and impaired glucose tolerance in healthy subjects. AU - Bonnet, Fabrice. AU - Patel, Sheila. AU - Laville, Martine. AU - Balkau, Beverley. AU - Favuzzi, Angela. AU - Monti, Lucilla D.. AU - Lalic, Nebojsa. AU - Walker, Mark. PY - 2008/4. Y1 - 2008/4. N2 - OBJECTIVE- Recent studies suggested that the blockade of the renin-angiotensin system (RAS) may be associated with metabolic benefits. However, data about the potential influence of the ACE insertion/deletion (I/D) genotype on insulin resistance have been contradictory with studies of limited sample sizes. The purpose of this study was to investigate the relationship between the ACE gene I/D polymorphism and both insulin sensitivity and glucose intolerance in a large cohort of healthy subjects. RESEARCH DESIGN AND METHODS- A total of 1,286 participants in the Relationship Between Insulin Sensitivity and Cardiovascular Disease Risk Study had a 75-g ...
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 ...
OBJECTIVES: In this study, we investigated whether polymorphisms of the HIF-1alpha gene may account for the patterns of HIF-1alpha protein expression in non-small cell lung carcinomas (NSCLC) and the expression of HIF-1alpha down-stream proteins. METHODS: Specific HIF-1alpha polymorphisms were assessed in a series of patients with NSCLC: (a) the C to T transition at nucleotide 1744 (position 2028 according to sequence with accession number , which gives rise to Pro/Ser variation at codon 582), (b) the G to A nucleotide substitution at point 1790 (position 2046 according to sequence with accession number , which gives rise to Ala/Thr variation at codon 588), and (c) the dinucleotide GT repeat polymorphism in intron 13. Immunohistochemistry for HIF-1alpha and down-stream proteins (VEGF, LDH-5, GLUT-1) was also performed in tumor material. RESULTS: A strong association of the P582S polymorphism and of GT repeat polymorphism higher than 14/14 with increased HIF-1alpha expression was noted. HIF-1alpha
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: MDM2 (Murine Double Minute2) is an oncoprotein that inhibits the P53 activity. Overexpression of MDM2 gene has been reported in several human tumors. In the present study, we aimed to evaluate the impact of 40-bp insertion/deletion (ins/del) polymorphism on the promoter of MDM2 and susceptibility to breast cancer in ...
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). ...
Effect of genetic polymorphisms on Alzheimers disease treatment outcomes: an update Riyadi Sumirtanurdin,1 Amirah Y Thalib,1 Kelvin Cantona,1 Rizky Abdulah1,2 1Department of Pharmacology and Clinical Pharmacy, Faculty of Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia; 2Center of Excellence in Higher Education for Pharmaceutical Care Innovation, Universitas Padjadjaran, Jatinangor, Indonesia Abstract: Genetic variations in individuals may cause differences in the response to cholinesterase inhibitor drugs used in the treatment of Alzheimers disease (AD). Through this review, we aimed to understand the potential relationship between genetic polymorphisms and treatment response in AD. We conducted a systematic review of the studies published from 2006 to 2018 that assessed the relationship between genetic polymorphisms and the pharmacotherapeutic outcomes of patients with AD. Via several possible mechanisms, genetic polymorphisms of many genes, including ABCA1, ApoE3, CYP2D6, CHAT, CHRNA7, and
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 ...
TY - JOUR. T1 - Effects of base excision repair gene polymorphisms on pancreatic cancer survival. AU - Li, Donghui. AU - Li, Yanan. AU - Jiao, Li. AU - Chang, David Z.. AU - Beinart, Garth. AU - Wolff, Robert A.. AU - Evans, Douglas B.. AU - Hassan, Manal M.. AU - Abbruzzese, James L.. PY - 2007/4/15. Y1 - 2007/4/15. N2 - To explore the association between single nucleotide polymorphisms of DNA repair genes and overall survival of patients with pancreatic cancer, we conducted a study in 378 cases of pancreatic adenocarcinoma who were treated at The University of Texas M. D. Anderson Cancer Center between February 1999 and October 2004 and were followed up to April 2006. Genotypes were determined using genomic DNA and the MassCode method. Overall survival was analyzed using the Kaplan-Meier plot, log-rank test and Cox regression. We observed a strong effect of the POLB A165G and T2133C genotypes on overall survival. The median survival time (MST) was 35.7 months for patients carrying at least 1 ...
Background: Polymorphism of NFKB1 and NFKB1A are highly associated with cancer. We have assessed polymorphism in the promoter region of NFKB1 -94 del/ins ATTG (rs28362491) and NFKB1A -826 C/T (rs2233406) with the risk of HNSCC in Indian population. Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for the genotyping NFKB1 -94 del/ins ATTG and NFKB1A -826 C/T. Sequencing was done to validate the results of PCR-RFLP. Statistical analysis of data was done by Stata/SE-14.0 software. Results: ins/ins genotype was observed to be a risk factor of HNSCC as compared del/del genotype of NFKB1 -94 ATTG. Interactive effects of smoking and chewing on ins/ins genotype showed 13.96 and 10.92 fold increased risk of HNSCC. NFKB1A -826 C/T polymorphism, TT genotype showed no association with the risk of HNSCC as compared to wild type CC genotype. Conclusion: Our results showed NFKB1 -94 del/ins ATTG with smoking and tobacco chewing may increase the risk of HNSCC
Coronary artery disease (CAD) is a multifactorial disease influenced by genetic and environmental factors. Major risk factors of CAD are hypertension, hyperlipidemia, smoking, family history and obesity. Also polymorphisms in the angiotensin-I converting enzyme (ACE) gene can associate with CAD. The relationship between ACE polymorphisms and other risk factors is not well understood in CAD, likely due to the complex interrelation of genetic and environmental risk factors. The aim of this study was to investigate the associations of CAD risk factors and ACE polymorphisms in patients with CAD. We enrolled 203 consecutive patients and 140 healthy subjects in the study. The severity of CAD was evaluated according to the number of vessels with significant stenosis. ACE insertion (I)/deletion (D) genotype was determined by PCR. The frequency of the DD genotype was significantly higher in patients. D allele frequency was higher among CAD subjects when compared to the control group. The number of ...
It is uncertain whether smoking is related to colorectal cancer risk. Cytochrome P-450 CYP1A1, glutathione-S-transferase (GST) and NAD(P)H:quinone oxidoreductase 1 (NQO1) are important enzymes in the metabolism of tobacco carcinogens, and functional genetic polymorphisms are known for these enzymes. We investigated the relation of cigarette smoking and related genetic polymorphisms to colorectal cancer risk, with special reference to the interaction between smoking and genetic polymorphism. We used data from the Fukuoka Colorectal Cancer Study, a population-based case-control study, including 685 cases and 778 controls who gave informed consent to genetic analysis. Interview was conducted to assess lifestyle factors, and DNA was extracted from buffy coat. In comparison with lifelong nonsmokers, the odds ratios (OR) of colorectal cancer for |400, 400-799 and ≥800 cigarette-years were 0.65 (95% confidence interval [CI], 0.45-0.89), 1.16 (0.83-1.62) and 1.14 (0.73-1.77), respectively. A decreased risk
Background: The prevalence of genetic association studies in the literature has increased exponentially over the past decade. Most are cross-sectional studies that present unique methodological challenges and risks of bias; they should be appraised accordingly when included in systematic reviews and meta-analyses. Objectives: To develop a method for assessing risk of bias in genetic association studies and demonstrate its use in a review of the association between a genetic polymorphism (CYP2B6*6) and metabolism of a drug (methadone plasma concentration). Methods: We searched Medline, EMBASE, CINAHL, PsycINFO, and Web of Science databases. Two independent reviewers included studies that reported methadone plasma concentration and the CYP2B6*6 polymorphism. Results: We modified the Newcastle-Ottawa Scale to assess the risk of bias in studies of the effect of genetic polymorphisms on drug metabolism. We removed several categories highlighting the comparability of cohort or case/control selection ...
Insulin-dependent diabetes mellitus (IDDM), cardiovascular morbidity, and vital prognosis are linked to diabetic nephropathy, which is probably determined by renal hemodynamic abnormalities and by a genetic predisposition. Angiotensin I converting enzyme (ACE) regulates systemic and renal circulations through angiotensin II formation and kinins metabolism. Plasma and cellular ACE levels are genetically determined; an insertion/deletion polymorphism of the ACE gene is strongly associated with ACE levels, subjects homozygote for insertion (genotype II) having the lowest plasma values. We studied the relationship between the ACE gene polymorphism or plasma levels and microcirculatory disorders of IDDM through two independent studies: one involved 57 subjects with or without diabetic retinopathy, and the other compared 62 IDDM subjects with diabetic nephropathy to 62 diabetic control subjects with the same characteristics (including retinopathy severity) but with normal kidney function. The ACE ...
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 ...
OBJECTIVE: To determine whether transforming growth factor beta1 (TGFbeta1) gene DNA polymorphism is associated with pathogenesis in the fibrosis of patients with systemic sclerosis (SSc). METHODS: Eighty-seven Japanese patients with SSc including 30 with diffuse type and 57 with limited type together with 110 unrelated controls were investigated. Pulmonary fibrosis was determined in 34 SSc patients using high-resolution chest computed tomography. TGFbeta1 genetic polymorphisms were analyzed in 2 loci; T869C (Leu10Pro) in codon 10 at exon 1, and C-509T in the promoter region using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: Neither the genotype of T/C polymorphism in T869C nor C/T polymorphism in C-509T revealed any difference in distribution between SSc and controls. In the group of SSc patients with pulmonary fibrosis, a weak but significantly high frequency (p = 0.05) of TC+CC (the presence of C allele) in T869C, and CT+TT (the presence of T allele) ...
Several studies on the association of TNF-alpha (−308 G/A), IL-6 (−174 G/C) and IL-1beta (−511 C/T) polymorphisms with polycystic ovary syndrome (PCOS) risk have reported conflicting results. The aim of the present study was to assess these associations by meta-analysis. A total of 14 eligible articles (1665 cases/1687 controls) were included in this meta-analysis. The results suggested that there was no obvious association between the TNF-alpha (−308 G/A) polymorphism and PCOS in the overall population or subgroup analysis by ethnicity, Hardy-Weinberg equilibrium (HWE) in controls, genotyping method, PCOS diagnosis criteria, and study sample size. Also, no obvious association was found between the TNF-alpha (−308 G/A) polymorphism and obesity in patients with PCOS (body mass index [BMI] ≥ 25 kg/m2 vs. BMI | 25 kg/m2). Regarding the IL-6 (−174 G/C) polymorphism, also no association was found in the overall population in heterozygote comparison, dominant model, and recessive model. Even
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 ...
Background: Peroxisome proliferator-activated receptor gamma (PPAR gamma) is a ligand dependent transcription factor involved in various processes, including carcinogenesis. We aimed to investigate any possible association of the PPAR gamma Pro12Ala (rs1801282) polymorphism with risk of developing gastric cancer (GC). Patients and Methods: A hospital based case control study was designed covering 50 patients with GC and 120 healthy controls. The frequencies of PPAR gamma Pro12Ala (rs1801282) were determined using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results: The Ala12 allele of the PPAR gamma Pro12Ala G gene was associated with a 1.95 fold increased risk of GC development (p: 0.022; 95% CI: 1.58-2.40). Subgroup analyses showed that the same allele was also associated with metastasis (p: 0.000; OR: 4.09; 95% CI: 2.273-7.368) and differentiation (p: 0.004; OR: 1.95; 95% CI: 1.335-2.875) in patients with GC. Conclusion: This study suggests that the ...
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. AU - Knight, Julia A.. AU - Glendon, Gord. AU - Mulligan, Anna Marie. AU - Broeks, Annegien. AU - ...
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
Many environmental and genetic factors have been implicated in the development of multiple sclerosis. However, the aetiology has not been clarified yet. Therefore, using a meta-analytic approach, we tried to probe the potential association between various cytokine gene polymorphisms and the occurrence of multiple sclerosis. A comprehensive literature search yielded 45 eligible studies, which involved 7379 cases and 8131 controls. Totally, the effect of eight polymorphisms, i.e. IL-1A C[-889]T, IL-1B C[-511]T, IL-1B C[3953]T, IL-4 C[33]T, IL-10 C[-819]T, IL-10G[-1082]A, tumour necrosis factor-a (TNFA) G[-308]A and TNFA G[-238]A, was evaluated in a random-effects meta-analysis. There was no evidence of statistically significant association between the aforementioned polymorphisms and multiple sclerosis. Publication bias and heterogeneity were absent in most analyses. Within its limitations, the current literature-based meta-analysis does not indicate that specific polymorphic variations of genes ...
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.