• Genetic polymorphisms in the vitamin D receptor (VDR) may influence the biological effects of vitamin D and increase a person's susceptibility to cancer. (bvsalud.org)
  • Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
  • This is known as genetic predisposition or susceptibility. (livemint.com)
  • Thus, the first step in identifying the disease-susceptibility genes should involve identification of candidate genes. (livemint.com)
  • The purpose of this case-control research is to determine if GABRG2 polymorphisms contribute to IGE susceptibility and antiepileptic drug resistance in Pakistani population. (hindawi.com)
  • Among ligand-gated channel genes, the genes encoding gamma-aminobutyric acid (GABA) receptors are considered a hotspot for susceptibility of IGE because of the extensive distribution of GABA receptors in the central nervous system (CNS), their potential for postsynaptic inhibition, and regulation by therapeutically important antiepileptic drugs [ 10 ]. (hindawi.com)
  • However, these genes can not account for the overall inheritance of susceptibility to POAG pathogenesis. (molvis.org)
  • Genetic association studies aimed at defining susceptibility to POAG may provide important insights into the pathogenesis of POAG. (molvis.org)
  • Aim: Accumulating evidence suggests that DNA damage and repair play a role in asthma etiology, however, little is known about the contribution of genotypes of DNA repair genes to asthma susceptibility. (iiarjournals.org)
  • Conclusion s : The present study suggests that the SLC6A4 rs140701 polymorphism variant may be associated with susceptibility to PD, and 5-HTTLPR polymorphism may be a predictor of response to sertraline in the treatment of PD. (researchsquare.com)
  • Odds ratios (ORs) and 95% confidence intervals (CIs) were applied to assess the association of the selected polymorphisms with Wilms tumor susceptibility. (jcancer.org)
  • Our results indicated that RAN and RANBP2 polymorphisms were associated with Wilms tumor susceptibility in Chinese children. (jcancer.org)
  • Tumorigenesis in retinoblastoma is due to inactivation of both alleles of the RB susceptibility gene RB1.6,7 RB1 is a tumor suppressor gene whose deletion or mutation causes unregulated proliferation of embryonal retinal cells. (paojournal.com)
  • Genetic variation frequencies differ among different ethnicities, which may be associated with variation in susceptibility to adverse drug reactions among diverse populations. (nursingpaperslayers.com)
  • CYP2A13 genetic polymorphisms may be associated with interindividual differences in susceptibility to tobacco-related tumorigenesis, because the resultant variations in CYP2A13 expression and metabolic activity can significantly alter the extent of NNK metabolic activation in human lung. (aspetjournals.org)
  • This genetic variability seems to be associated with differences in susceptibility to certain types of cancers, including prostate cancer. (springeropen.com)
  • No significantly positive associations were found for the CYP1A1 T3801C [ p = 0.71, OR = 1.23 (0.56-2.72)] and GSTM1 - null [ p = 0.26, OR = 1.37 (0.76-2.4)] polymorphisms and prostate cancer susceptibility. (springeropen.com)
  • A translational genomics approach identifies IL10RB as the top candidate gene target for COVID-19 susceptibility. (cdc.gov)
  • Using a translational genomics approach that integrates COVID-19 genetic susceptibility variants, multi-tissue genetically regulated gene expression (GReX), and perturbagen signatures, we identified IL10RB as the top candidate gene target for COVID-19 host susceptibility. (cdc.gov)
  • Killer cell immunoglobulin-like receptors (KIRs) show extensive variation in genetic content and allelic polymorphi sms among different populations. (biomedcentral.com)
  • We analyzed the distribution of KIR genes in the Tibetan ethnic minority of Lhasa city, the Uyghur and Kazakh ethnic minorities of Urumqi city populations in China. (biomedcentral.com)
  • The study showed that profile of KIR genotypes in three ethnic minority populations in China displayed ethnic diversity. (biomedcentral.com)
  • In this study, efforts were made to ascertain the frequency of VDR polymorphisms in the Saudi population of Ha'il region, and then comparison was made for VDR polymorphism rates with other populations of the world. (bvsalud.org)
  • To measure the intra-ethnic variation we calculated (i) the average genetic distance between regional populations of every group and (ii) Gst (Fst) variation. (blogspot.com)
  • Analysis of genetic relationships between populations reveals three main clusters of populations in space of two first PCs reflecting the differential presence of ancient West-Eurasian Caucasoid, Proto-Uralic and Paleoasiatic components. (blogspot.com)
  • Haplotype-based selection analysis further suggests that this is a striking example of two functional polymorphisms being strongly selected for in human populations in response to environmental stresses. (ox.ac.uk)
  • The frequencies exhibit considerable variation in different geographic locations, reflecting the underlying genetic and ethnic diversity of human populations [3]. (who.int)
  • The results of the haplotype distribution and the allele frequencies for each of the factor IX gene polymorphisms in Amerindians were similar to the results reported for Asian populations but differed from results for other ethnic groups. (wayne.edu)
  • Our data represent the first study of factor IX-associated polymorphisms in Amerindian populations and emphasizes the applicability of these genetic markers for population and human evolution studies. (wayne.edu)
  • Background: We examined how expanding electrocardiographic trait genome-wide association studies to include ancestrally diverse populations, prioritize more precise phenotypic measures, and evaluate evidence for shared genetic effects enabled the detection and characterization of loci. (elsevierpure.com)
  • RESEARCH DESIGN AND METHODS: In all, 5,290 single nucleotide polymorphisms (SNPs) were successfully genotyped in 3,179 type 2 diabetes case and control subjects from eight populations with evidence of 1q linkage. (ox.ac.uk)
  • Simply put, population genetics is the study of genetic variation within populations and assessment of changes in the frequencies of genetic variations and alleles in populations. (livemint.com)
  • In the Amerindian and Mestizo populations, the frequency of the T-46 allele was 0,90-1,00, among Afrocolombians this was 0,50, equal to the C allele and with absence of heterozygous At locus 131, the highest frequency of the G allele was 0,30 in Amerindians and the A allele was 0,69 in Afro-colombians. (univalle.edu.co)
  • Insertion (I)/deletion (D) polymorphism in the gene encoding the angiotensin-converting enzyme (ACE) has been studied to examine the genetic predisposition to sarcoidosis in different populations, but the results have been inconsistent and inconclusive. (erdogan.edu.tr)
  • Luca was one of the first scientists to use genetic information to understand the relationships between different human populations at the level of the DNA," said Marcus Feldman , PhD, professor of biology at Stanford. (stanford.edu)
  • As technology became available to survey variations at the genetic level, Cavalli-Sforza began examining genetic changes on the Y chromosome in populations around the world. (stanford.edu)
  • Reviewing Cavalli-Sforza's 2000 book Genes, Peoples, and Languages in The New York Review of Books , Jared Diamond praised the Stanford researcher for "demolishing scientists' attempts to classify human populations into races in the same way that they classify birds and other species into races. (stanford.edu)
  • In an attempt to extend his genetic analysis of people, Cavalli-Sforza began the Human Genome Diversity Project to gather and store genetic samples from populations around the world. (stanford.edu)
  • In the end, the group collected samples from more than 50 populations that are now stored at the Center for the Study of Human Polymorphisms in Paris. (stanford.edu)
  • Further prospective studies on large and different ethnic populations will be necessary to confirm our findings and elucidate the underlying molecular mechanism for the development of HCC. (biomedcentral.com)
  • The risk alleles of these SNPs were similar to those of other Asian populations, such as Japanese or Chinese, but differed from non-Asian populations, suggesting that still unidentified genetic or environmental factors may contribute to disease expression. (molvis.org)
  • This observation suggests that the genetic background of amyotrophic lateral sclerosis differs between different populations, countries and regions. (bmj.com)
  • Although SOD1 mutations have been identified in many western populations at comparable frequencies, screening in clinical practice suggests that these mutations are rare in The Netherlands. (bmj.com)
  • We report the frequency of SOD1 mutations in a large Dutch referral population of sporadic and familial ALS patients, and a comparison is made with other countries by reviewing studies on SOD1 mutation frequencies in populations from Europe, USA and Japan. (bmj.com)
  • The frequency of four allelic variants of the TPMT gene, TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C were compared in British Caucasian (n = 199) and Ghanaian (n = 217) populations using PCR-RFLP and allele-specific PCR-based assays. (elsevierpure.com)
  • Methods: We analyzed 2 founder Jewish populations of Moroccan and Ashkenazi origins and ethnic matched controls. (mssm.edu)
  • We determined that 691-692insAG is a founder mutation in the tested populations with a minimal risk haplotype of 58.5 Kb, encompassing the entire OPTN gene. (mssm.edu)
  • We classified those articles on the basis of their samples into high-risk and low-risk populations and white and Asian ethnic groups. (ox.ac.uk)
  • Differences in variant allele frequency were observed among the populations studied and the corresponding gnomAD population for 7.9% of the variants. (cdc.gov)
  • From previous reports, rs2242480 single nucleotide polymorphisms (SNPs) can alter sufentanil metabolism, which affects analgesic efficacy. (bvsalud.org)
  • The application of pharmacogenetics in identifying single nucleotide polymorphisms (SNPs) in DNA sequences that cause clinically significant alterations in drug-metabolizing enzyme activities is discussed. (medscape.com)
  • Historical and current examples of several extensively studied SNPs include the genes encoding for glucose-6-phosphate dehydrogenase, N -acetyltransferase, and the superfamily of cytochrome P-450 (CYP) isoenzymes. (medscape.com)
  • We have focused on the most common single nucleotide polymorphisms (SNPs), the inherited nature of their deficiency, their frequency, and the clinical importance of drug-metabolizing-enzyme variants. (medscape.com)
  • The involvement of single-nucleotide polymorphisms (SNPs) in the TLR genes in infectious pathogenicity, including toxoplasmic retinochoroiditis, points at a possible involvement of TLR alterations in immunity against T. gondii . (springer.com)
  • Three TRAF5 SNPs were analyzed in 450 AAU patients with or without ankylosing spondylitis (AS), 458 pediatric uveitis patients, and 1,601 healthy controls by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or TaqMan SNP Genotyping Assay. (biomedcentral.com)
  • Genotypes of three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing, and a case-control association study was performed. (molvis.org)
  • There was no significant association between the genotype frequencies of the three SNPs and the XFS phenotypes. (molvis.org)
  • Thus, the present study was designed to confirm the association of three SNPs in the LOXL1 gene with XFS in a Korean population and to compare results to previous studies of other ethnic groups. (molvis.org)
  • The aim of this study was to identify any impact of CYP2A13 single-nucleotide polymorphisms (SNPs) on CYP2A13 expression in human lung. (aspetjournals.org)
  • To date, more than 20 single-nucleotide polymorphisms (SNPs) have been identified in CYP2A13 (Zhang et al. (aspetjournals.org)
  • According to the numbers and types, KIR haplotypes are broadly classified into two groups: group A haplotypes have a fixed KIR gene ( 2DL1 , 2DL3 - 4 , 3DL1 - 3 , 2DS4 , 2DP1 and 3DP1 ), in contrast, group B haplotypes have variations in genetic content which is comprised of several genes and alleles that are not found in A haplotypes. (biomedcentral.com)
  • Future studies should focus on identification of causal alleles of lower frequency and higher penetrance. (ox.ac.uk)
  • The frequency of variant alleles for drug-metabolizing enzymes often differs among ethnic groups. (medscape.com)
  • Alleles are nucleotide bases (A, T, G and C) found in the DNA in different combinations and demonstrate genetic variations. (livemint.com)
  • These alleles collectively form a cluster known as the gene pool of a certain population. (livemint.com)
  • This study aimed to determine the frequencies of the genotypes and alleles of I/D polymorphism in the ACE gene in Turkish patients as a distinct ethnic group and to investigate whether such polymorphism is associated with predisposition to sarcoidosis. (erdogan.edu.tr)
  • Although ethnic differences in TPMT activity have been described, population frequency analysis of TPMT alleles has not been well defined in different ethnic groups. (elsevierpure.com)
  • In contrast, 10.1% of British subjects had variant alleles, consisting of TPMT*2 (n = 2), TPMT*3A (n = 17) and TPMT*3C (n = 1) alleles, The frequencies of mutant alleles in this study were 5.3 and 7.6% in British Caucasians and Ghanaians, respectively. (elsevierpure.com)
  • Among Ghanaian tribes, Ewe subjects had a lower frequency of mutant alleles (5.9%) than Ga (13.2%) or Fanti (11.6%), although this did not reach statistical significance. (elsevierpure.com)
  • A trend toward ethnic distribution was noted among the alleles and genotypes for the IL-10 and IFN-γ genes. (usuhs.edu)
  • 788 pharmacogenetic alleles, distributed through 19 genes included in Clinical Pharmacogenetics Implementation Consortium guidelines were analyzed. (cdc.gov)
  • Tibetans were different from Kazakh and Uyghur groups in KIR genetic content and KIR allelic variation. (biomedcentral.com)
  • These findings support the hypothesis that, from early in human ontogeny, genetic variation in the oxytocin system is systematically linked to individual differences in the reported motivation to seek out, and the enjoyment of receiving, pleasant caregiver touch. (bvsalud.org)
  • Despite the high intra-ethnic variation (Gst=0.03 on average), the inter-ethnic differences were five times higher (Gst=0.15), revealing dominance of inter-ethnic variation in structuring the paternal gene pool in Europe. (blogspot.com)
  • Certain common changes (polymorphisms) in the CYP2C9 and VKORC1 genes account for most of the variation in warfarin metabolism due to genetic factors. (medlineplus.gov)
  • With the advancement of pharmacogenomic technologies, genetic variation has been identified to contribute to individual response to antidepressants. (researchsquare.com)
  • Mutations, the changes in the sequences of genes in DNA, are one source of genetic variation (Lin, 2007). (nursingpaperslayers.com)
  • Finally, genetic variation can result from sexual reproduction, which leads to the creation of new combinations of genes (Lin, 2007). (nursingpaperslayers.com)
  • Competing causes of mortali- or all of the animal species tested genetic variation, health status, life ty may prevent the development of experimentally. (who.int)
  • This promoter region polymorphism may be useful as both a functional and an anonymous genetic marker for MAOA. (nih.gov)
  • Several polymorphisms in the promoter region of TNF-α have been associated with different TNF-α expression levels [ 6 ]. (biomedcentral.com)
  • Patients and controls were genotyped for the A/C polymorphism at position −863 of the TNF-α gene promoter region. (molvis.org)
  • The varied genotype-phenotype relationships in RB are due to the wide array of genetic variations linked to RB1, which include chromosomal rearrangements, large exonic deletions, hypermethylation of the gene promoter region, small length mutations, and single nucleotide substitutions. (paojournal.com)
  • C, one of IL-6 functional polymorphisms in the promoter region, has been reported as influencing IL-6 gene transcription and has been associated with elevated CRP levels. (ijbls.org)
  • Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)
  • Idiopathic generalized epilepsy is the most common category of epilepsy with nonfocal mechanism of onset and no external cause or no cause beyond genetic predisposition according to the current definition [ 4 ]. (hindawi.com)
  • Our results suggest that I/D polymorphism in the ACE gene does not cause a genetic predisposition to sarcoidosis in Turkish patients. (erdogan.edu.tr)
  • This heterogeneity of NAFLD is in turn influenced by various factors primarily demographic/dietary factors, metabolic status, gut microbiome, genetic predisposition together with epigenetic factors. (wjgnet.com)
  • The eNOS gene has several single nucleotide polymorphisms reported, one of which is G894T. (scirp.org)
  • 30% Hispanic/Latino) into 6 contiguous, physiologically distinct (P wave, PR segment, QRS interval, ST segment, T wave, and TP segment) and 2 composite, conventional (PR interval and QT interval) interval scale traits and conducted multivariable-adjusted, trait-specific univariate genome-wide association studies using 1000-G imputed single-nucleotide polymorphisms. (elsevierpure.com)
  • Lead single-nucleotide polymorphism rs3211938 at CD36 was common in Blacks (minor allele frequency=10%), near monomorphic in European Americans, and had effects on the QT interval and TP segment that ranked among the largest reported to date for common variants. (elsevierpure.com)
  • The results of the association between the rs6265 single nucleotide polymorphism (SNP) and suicidal behavior are not conclusive, since both negative associations and positive associations have been reported ( Table 1 ) [ 5 , 8 - 29 ]. (psychiatryinvestigation.org)
  • Widely studied CETP variants is a silent base change called the Thermobius aquaticus IB (TaqIB) affecting the 277th nucleotide in the first intron of the CETP gene [ 18 ]. (biomedcentral.com)
  • The shared risk haplotype was characterized using whole-genome single nucleotide polymorphism array. (mssm.edu)
  • Thus the studies evaluating the influence of CETP gene polymorphisms in humans are essential. (biomedcentral.com)
  • His blend of anthropology and genetics led to a new field he called genetic geography, in which he followed the spread of genetic variations to track how humans populated the world. (stanford.edu)
  • Previous studies have shown that different ethnic groups exhibit varying frequencies of the VDR gene variants TaqI, ApaI, FokI, and BsmI. (bvsalud.org)
  • Many of these genetic variants (i.e., genotypes) were discovered after observing adverse reactions (i.e., phenotypes) after administering common doses of drugs to patients. (medscape.com)
  • Several studies have reported various epilepsy risk variants of GABRG2 ( gamma-aminobutyric acid type A receptor subunit gamma2 subunit ) gene in different ethnic groups, but the results are inconsistent. (hindawi.com)
  • Seizures, epileptogenesis, and epilepsy are all influenced by genes and their variants on numerous levels. (hindawi.com)
  • Despite extensive molecular genetics investigations, non specific reproducibly genetic variants associated with CAD were found. (biomedcentral.com)
  • Therefore, the certain variants in the serotonin-related genes, such as serotonin transporter (5-HTT), 5-HT1A receptor (5-HTR1A), 5-HT2A receptor (5HTR2A) and catechol-O-methyltransferase (COMT) genes, may influence 5-HT neurotransmission, and they are good candidates for the study of PD. (researchsquare.com)
  • Objective: To detect genetic variants underlying familial and sporadic amyotrophic lateral sclerosis (ALS). (mssm.edu)
  • The genotypic frequencies in the cases were not similar to that of the controls, differences being statistically significant ( P = 0.002). (biomedcentral.com)
  • Usually, Group B haplotypes encode more activating KIR genes. (biomedcentral.com)
  • Factor IX Gene Haplotypes in Amerindians " by Rendrik F. Franco, Amélia G. Araújo et al. (wayne.edu)
  • We have determined the haplotypes of the factor IX gene for 95 Indians from 5 Brazilian Amazon tribes: Wayampf, Wayana-Apalaf, Kayapo, Arara, and Yanomami. (wayne.edu)
  • globin gene cluster haplotypes but agree with our recent findings on the distribution of a-globin gene cluster haplotypes and the allele frequencies for six VNTRs in the same Amerindian tribes. (wayne.edu)
  • Frequencies of haplotypes and haplotypes groups were also analyzed to assess the combined effect of two polymorphisms. (nih.gov)
  • Mutations in ion channel genes have been identified as a common cause of IGE. (hindawi.com)
  • Recently, multiple mutations in gamma 2 subunit of GABA receptors are discovered in two families which furnished the genetic evidence for possible role of GABA receptor system in epileptogenesis. (hindawi.com)
  • Genetic studies have recognized the impact of genetic mutations on plasma HDL-C levels. (biomedcentral.com)
  • Objective To estimate the frequency of SOD1 mutations in a large referral cohort of familial amyotrophic lateral sclerosis (FALS) and sporadic amyotrophic lateral sclerosis (SALS) patients from The Netherlands and to compare this frequency with that of other developed countries. (bmj.com)
  • Mutational analysis revealed point-mutations in the SOD1 gene to cosegregate with the disease in these pedigrees. (bmj.com)
  • We initiated this study to detect and characterize the RB1 gene mutations in tumor samples collected from Filipino patients with retinoblastoma. (paojournal.com)
  • We identified and characterized the type of mutations in exons 13-21 of the RB1 gene by polymerase chain reaction (PCR) amplification and sequencing and correlated the mutations with patients' clinical presentation and family history. (paojournal.com)
  • Thiopurine methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs such as 6-mercaptopurine, 6-thioguanine and azathioprine, TPMT activity is inherited as an autosomal co-dominant trait, and several mutations in the TPMT gene have been identified which correlate with a low activity phenotype. (elsevierpure.com)
  • The Netherton syndrome (Mendelian Inheritance in Man [MIM] #256500) is inherited as an autosomal recessive disorder due to mutations of both copies of the SPINK5 gene (localized to band 5q31-32). (medscape.com)
  • [ 18 ] Mutations in the SPINK5 gene in 13 families with Netherton syndrome were later reported. (medscape.com)
  • More than 40 distinct SPINK5 mutations have been reported to the Human Gene Mutation Database, with nonsense, splicing, and small insertions/deletions comprising the majority of them. (medscape.com)
  • Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. (medlineplus.gov)
  • Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism. (medlineplus.gov)
  • Several CYP2C9 gene polymorphisms decrease the activity of the CYP2C9 enzyme and slow the body's metabolism of warfarin. (medlineplus.gov)
  • Candidate genes for T2DM include genes responsible for pancreatic cell (Beta cell), insulin action/glucose metabolism, or other metabolic conditions that increase T2DM risk (eg, energy intake/expenditure, lipid metabolism). (livemint.com)
  • Interindividual differences observed in the metabolism of xenobiotics may be due to polymorphisms of genes encoding the detoxification enzymes. (springeropen.com)
  • Materials and Methods: Associations of seven XRCC3 genotypes, namely rs1799794, rs45603942, rs861530, rs3212057, rs1799796, rs861539 and rs28903081, with the risk of asthma were investigated among 198 patients with asthma and 453 non-asthma controls by polymerase chain reaction-restriction fragment length polymorphism genotyping methodology. (iiarjournals.org)
  • METHODS: We searched Medline for articles studying the association between the ACE I/D polymorphism and carotid IMT. (ox.ac.uk)
  • Winter temperature and UV are tightly linked to genetic changes in the p53 tumor suppressor pathway in Eastern Asia. (ox.ac.uk)
  • Nevertheless, the effects of the RAN and RANBP2 gene polymorphisms on the tumorigenesis of Wilms tumor remain unclarified. (jcancer.org)
  • In recent years, it is gradually recognized that the occurrence and development of Wilms tumor is closely connected to various genetic alterations [ 7 ]. (jcancer.org)
  • For instance, aberrant splicing of WT1 , a pivotal cancer suppressor gene, increased the risk of Wilms tumor [ 8 ]. (jcancer.org)
  • Clinical presentation and family history, combined with molecular genetic testing of tumor and/or peripheral blood, are used to determine if a patient has a heritable or non-heritable mutation. (paojournal.com)
  • Genetic testing is, therefore, a valuable adjunct to the clinical management of RB patients and their family members, since it gives diagnostic certainty,Ophthalmologyfacilitates timely treatment, reduces unnecessary examinations, aids genetic counseling for reproductive planning, and allows early tumor detection in at-risk individuals. (paojournal.com)
  • Using polymerase chain reaction-based assays and, in some cases, restriction enzyme digestion, we determined genetic polymorphisms for the cytokines interleukin (IL) -2, IL-6, IL-10, tumor necrosis factor-α, transforming growth factor-β, and interferon-γ (IFN-γ). (usuhs.edu)
  • We found no correlation between ethnicity and either allelic distribution or genotype frequency for the tumor necrosis factor-α or transforming growth factor-β genes. (usuhs.edu)
  • Furthermore, no statistically significant differences between the studied polymorphisms and tumor parameters (the Gleason score and clinical stages of aggressiveness) at diagnosis of PCa. (springeropen.com)
  • Recent studies indicated that pathogen recognition receptors such as Toll-like receptor 4 may have a role in pathogenesis of MS. The aim of the study was to evaluate the association of rs1927911 polymorphism in TLR4 gene with MS. (bvsalud.org)
  • found a biallelic polymorphism (Ala−9Val) in the mitochondrial targeting sequence (MTS) of human MnSOD in a Japanese population and reported a significant positive association between the MnSOD allele and Parkinson's disease. (nature.com)
  • In this study, we investigated the genetic association of the MnSOD allele with schizophrenia and TD in a Japanese sample through case-control studies. (nature.com)
  • These results do not support the results in Caucasians and indicate that ethnic differences may exist in the association between polymorphisms in the OPA1 gene and NTG. (nih.gov)
  • The case of Churchill and other similar instances make us question the genetic component in the reduced risk and protective association to cancers in heavy smokers. (livemint.com)
  • The increase in genomic data in recent years has enabled us to conduct more association studies, thus fortifying genetic research. (livemint.com)
  • BDNF is encoded by the BDNF gene located on chromosome 11 [ 8 ], and most genetic association studies between this gene and suicidal behavior were performed for the rs6265 polymorphism, which is also known as the Val66Met or G196A polymorphism [ 9 ]. (psychiatryinvestigation.org)
  • Furthermore, this phenotype of CAD should probably provide more power in detecting genetic association. (biomedcentral.com)
  • To get a better understanding of a possible mechanism for the teratogenicity of these and other medications, such as gene-medication interaction, the Birth Defects Monitoring and Research Branch is planning a genome-wide association study (GWAS) with enhanced pharmacogenomic content among mothers of infants with and without birth defects who used specific medications. (cdc.gov)
  • In this study we investigated the possible association between the TNF-α (−863) polymorphism and the development of POAG. (molvis.org)
  • To ascertain the association with ETM2, we performed a genetic analysis of three polymorphic loci, etm1231, etm1234, and etm1240, located within the ETM2 candidate region in 61 Czech patients with a family history of ET and 68 healthy controls. (nel.edu)
  • Evaluation of the association between the CYP19 Tetranucleotide (TTTA)n polymorphism and polycystic ovarian syndrome(PCOS) in Han Chinese women. (nel.edu)
  • The present study aims to evaluate the association between tetranucleotide TTTA repeat polymorphism in the CYP19 gene and PCOS among Han Chinese women. (nel.edu)
  • Hao C, Zhang N, Qu Q, Wang X, Gu H, Chen Z. Evaluation of the association between the CYP19 Tetranucleotide (TTTA)n polymorphism and polycystic ovarian syndrome(PCOS) in Han Chinese women. (nel.edu)
  • The purpose of this study was to evaluate association profiles of lysyl oxidase-like 1 ( LOXL1 ) gene polymorphisms with pseudoexfoliation syndrome (XFS) in a Korean population. (molvis.org)
  • The aim of the present study was to examine the association of serotonin-related gene polymorphisms with PD risk. (researchsquare.com)
  • The SLC6A4(rs140701, rs3813034, 5-HTTLPR and STin2), 5-HTR1A rs6295, 5-HTR2A rs6313 and COMT rs4680 gene polymorphisms were genotyped and assessed for the potential association. (researchsquare.com)
  • A few studies have investigated the association between the 5-HTT linked polymorphic region (5-HTTLPR), 5-HTR1A rs6295, 5-HTR2A rs6313, COMT rs4680 polymorphisms and PD[8-16]. (researchsquare.com)
  • CONCLUSIONS: Our meta-analysis showed evidence of a positive association between the D allele of the ACE gene and common carotid IMT. (ox.ac.uk)
  • Association of ACE1 I/D rs1799752 and ACE2 rs2285666 polymorphisms with the infection and severity of COVID-19: A meta-analysis. (cdc.gov)
  • Forty population samples from 22 ethnic groups were studied. (blogspot.com)
  • OBJECTIVE: Linkage of the chromosome 1q21-25 region to type 2 diabetes has been demonstrated in multiple ethnic groups. (ox.ac.uk)
  • Since the most important prevention is the early detection of groups at high risk for suicide, many studies and efforts to find high-risk groups have been steadily carried out, and many genetic studies have been conducted to identify candidate genes for suicidal behavior. (psychiatryinvestigation.org)
  • The allele frequencies and genotype distribution of the groups were analyzed using the Chi square test. (erdogan.edu.tr)
  • He found that people from the same population are as genetically diverse as people from two different groups, essentially showing that at the genetic level, there is no such thing as race. (stanford.edu)
  • He was accused of biopiracy, exploitation and of enabling biological weapons that could attack the genetics of particular ethnic groups. (stanford.edu)
  • In addition, there was no differential distribution of allelic frequencies for these XRCC3 polymorphic sites between the two groups. (iiarjournals.org)
  • At the rs3825942, the G allele (OR=12.50, 95% CI=2.94-50.0) was a risk allele for XFS, which was similar to results from most other ethnic groups except black South Africans in whom the A allele increased the risk. (molvis.org)
  • It is important to note that previous studies have been conducted in different ethnic groups, few of them have examined the relationship between these gene polymorphisms and PD in Chinese population. (researchsquare.com)
  • Another source is gene flow, or the movement of genes between different groups of organisms (Lin, 2007). (nursingpaperslayers.com)
  • How- frequency of ABO and Rh blood groups ever, forf unclear results (158 cases) reverse in the population of Poonch district, Azad typing (crossmatching) was performed for Jammu and Kashmir, with a view to gener- blood group confirmation. (who.int)
  • The overall results were concordant in both ethnic groups. (ox.ac.uk)
  • In addition, we found that patients requiring renal transplantation differ from the general population with regard to certain cytokine gene polymorphisms. (usuhs.edu)
  • [ 17 ] mapped the disease locus to 5q32, which is telomeric to the cytokine gene cluster in 5q31. (medscape.com)
  • Up to now, 16 KIR gene loci have been identified, including two pseudogenes (KIR 2DP1 and 3DP1 ). (biomedcentral.com)
  • Genetic polymorphisms in Quantitative Trait Loci (QTL) genes such as BCL11A, HBS1L-MYB and KLF1 have been reported to influence fetal hemoglobin (HbF) levels. (mdpi.com)
  • The most common allele of the tetranucleotide TTTA repeat polymorphism in the forth intron of CYP19 gene in Han Chinese women is 11R, which was different with the previous study in European Caucasians. (nel.edu)
  • For example, a few studies investigated that 5-HTTLPR, intron 2 (STin2), 5-HTR1A rs6295, 5-HTR2A rs6313 and COMT rs4680 polymorphisms associated with antidepressant response[17-26]. (researchsquare.com)
  • This review introduces the concept of pharmacogenetics in the context of drug-metabolizing enzymes and highlights the polymorphisms in DNA sequences that lead to clinically significant alterations in drug-metabolizing-enzyme activities. (medscape.com)
  • Angiotensin-converting enzyme gene polymorphism and carotid artery wall thickness: a meta-analysis. (ox.ac.uk)
  • The genetic composition of a population's gene pool changes over time owing to mutation and other factors. (livemint.com)
  • All 27 exons contribute to the 2.7 kb open reading frame which codes for a 110 KDa nuclear phosphoprotein known as pRB.8 pRB functions as a regulator of cellular replication.9 Any mutation in exons 13-21 of the RB1 gene, which code for the functional domain of the protein, will result in reduced function of pRB. (paojournal.com)
  • This information can then be used to determine the genetic status of the parents of a proband with RB, as well as the risk of inheriting the cancer-predisposing mutation in the proband's siblings and offspring. (paojournal.com)
  • Results: We identified 5 unrelated patients with ALS homozygous for the null 691-692insAG mutation in the optineurin gene (OPTN), accounting for 5.8% of ALS of Moroccan origin and 0.3% of Ashkenazi. (mssm.edu)
  • Individuals with aberrant genes for these enzymes may experience diminished efficacy or increased toxicity in response to certain drugs because of the different levels of activities associated with variant genotypes. (medscape.com)
  • Our findings showed that C588T polymorphism of GABRG2 is a risk variant for IGE in Pakistani population. (hindawi.com)
  • This CYP19 tetranucleotide TTTA repeat polymorphism is an ethnic and racial variant and moderately contributes to the pathogenesis of PCOS in the population of Han Chinese women. (nel.edu)
  • In one particular area of study, variations in DNA sequences (i.e., genetic polymorphisms) explain some of the variability in drug-metabolizing enzyme activities which contribute to alterations in drug clearance and impact patients' response to drug therapy. (medscape.com)
  • Certain genetic variations in the GPX1 (Glutathione peroxidase) and EPHX1 (Epoxide hydrolase) genes are among the few that have been studied by researchers. (livemint.com)
  • Studies show that variations which are pathogenic in one ethnic group are not so in others. (livemint.com)
  • Within the domain of genetic risk factors for periodontitis, not only do certain genetic variations play a role, epigenetic changes in DNA are also involved. (efp.org)
  • As in other complex chronic diseases, it is important to realise that a multitude of genetic variations (probably more than a hundred) are involved, so periodontal disease is called polygenic. (efp.org)
  • Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we tested the genotype distribution of 100 migraine patients in comparison with 120 healthy migraine-free controls from the same geographical region. (scirp.org)
  • C) in the OPA1 gene were determined using the restriction fragment length polymorphism method. (nih.gov)
  • For this purpose, we genotyped exon2, exon5 ( C540T and C588T ), exon7 ( T813C ), exon8 ( K289M ), and exon9 of GABRG2 gene by restriction fragment length polymorphism and Sanger's sequencing in 87 drug-responsive idiopathic generalized epilepsy patients, 55 drug-resistant epilepsy patients, and 83 healthy controls. (hindawi.com)
  • Restriction fragment length polymorphism (RFLP) and sequencing results indicated only C588T polymorphism in the studied subjects. (hindawi.com)
  • C polymorphism was carried out using Polymerase Chain Reaction - Restriction Fragment Length Polymorphism (PCR-RFLP). (ijbls.org)
  • OPA1, the gene responsible for autosomal dominant optic atrophy, represents a good candidate gene for normal-tension glaucoma (NTG). (nih.gov)
  • Pharmacogenomic studies focusing on candidate gene polymorphisms implicated in antidepressant response, especially in the serotonergic pathway. (researchsquare.com)
  • The SPINK5 gene was mapped to the same region of 5q and, for functional reasons, was considered a candidate gene for Netherton syndrome. (medscape.com)
  • In our series, we did not notice any significant difference in genotype or allele frequency between diabetics with and without degenerative complications. (scirp.org)
  • There is no significant difference in CETP allele frequency or genotype distribution among LMCAD and MPCAD patients although there is statistical difference between LMCAD and Controls (p = 0.001). (biomedcentral.com)
  • This study provides the first analysis of TPMT mutant allele frequency in an African population and indicates that, unlike Caucasians, TPMT*3C is the most common allele in African subjects. (elsevierpure.com)
  • This study examined the hypothesis that genetic variability in the oxytocin system is linked to individual differences in infants' cuddliness operationalized as parent-reported behaviors indexing an infant's motivation to seek out and enjoy caregiver touch. (bvsalud.org)
  • There were no significant differences between the controls and sarcoidosis cases with respect to genotype distribution (chi(2) = 4.202, p = 0.122) and allele frequencies (chi(2) = 1.358, p = 0.244). (erdogan.edu.tr)
  • Pharmacogenetics has elucidated the genetic basis for interindividual variability in drug response and will continue to play a key role in defining strategies to optimize drug therapy. (medscape.com)
  • They are also well-defined genetic markers em-ployed in population genetic and anthropological studies [1,2]. (who.int)
  • Since the risk of suicide cannot be predicted by clinical symptoms alone, and suicide is known to have a genetic component, the discovery of genetic markers that can predict the lethality of suicide attempts is a clinically important topic. (psychiatryinvestigation.org)
  • These migration patterns have since been confirmed by researchers using different combinations of genetic markers. (stanford.edu)
  • KIR genes are located on human chromosome 19q13.4. (biomedcentral.com)
  • GABRG2 , a highly expressed gene in brain, resides on chromosome 5q34. (hindawi.com)
  • The CETP gene is located on chromosome 16q21. (biomedcentral.com)
  • Linkage analysis in 18 familial ALS pedigrees associated the gene encoding Cu/Zn superoxide dismutase ( SOD1 ) on chromosome 21 to the syndrome. (bmj.com)
  • These findings indicate that the TaqIB polymorphism may have potential importance in screening individuals at high risk for developing CAD. (biomedcentral.com)
  • Our findings provide further evidence of genetic heterogeneity for ET. (nel.edu)
  • In this work we proposed to study the role of genetic polymorphism of the eNOS G894T gene in the development of diabetes on the one hand and of these degenerative complications other. (scirp.org)
  • This prospective study was planned to evaluate the role of genetic polymorphisms in QTL genes as determinant of HbF levels in beta thalassemia major patients. (mdpi.com)
  • The mutated genotypes of GT eNOS gene was significantly more frequent in diabetic patients. (scirp.org)
  • We assessed whether the increasing numbers of inhabitants with a non-Western ethnic background had an effect on the number of extrapulmonary patients. (cdc.gov)
  • In HIV-infected patients the frequency of extrapulmonary TB depends on the degree of decreased cellular immunity ( 19 , 20 ). (cdc.gov)
  • The genotype and allele frequencies of two polymorphism in patients with NTG and normal controls were compared using the Fisher exact test and the chi test. (nih.gov)
  • Duffy blood group gene polymorphisms among malaria vivax patients in four areas of the Brazilian Amazon re¬gion. (univalle.edu.co)
  • Specifically, patients with LMCAD and B1B1 genotype of TaqIB polymorphism were more frequent present compared to Controls (33.8% vs 22.9%, respectively). (biomedcentral.com)
  • On the basis of epidemiological studies of twins and families with a higher rate of AgP, it can be concluded that in the younger patients the genetic contribution may account for as much as 50% of causal factors, while in the older patients a genetic contribution of at most 25% has been estimated. (efp.org)
  • The allele frequencies were not significantly different between the patients and the controls, and we did not observe any haplotype specifically associated with ET. (nel.edu)
  • Because of these benefits, there is a significant reduction in hospital expenditure and psychological stress for patients and their families who undergo genetic testing for RB. (paojournal.com)
  • When comparisons were made between patients with or without a history of kidney failure, the allelic or genotypic distributions for the IL-6 and IFN-≥ genes were found to significantly differ. (usuhs.edu)
  • We also identified a high frequency of heterozygous carriers among patients with ALS, 8.7% and 2.9%, respectively, compared to 0.75% and 1.0% in controls. (mssm.edu)
  • [ 19 ] studied steady-state levels of the mRNA encoding LEKTI (lymphoepithelial Kazal-type related inhibitor), the gene product of the SPINK5 gene, in cultured epidermal keratinocytes from a healthy control and 5 Netherton syndrome patients. (medscape.com)
  • However, the allelic distribution of these VDR polymorphisms in the Saudi population of Ha'il region is not sufficiently explored. (bvsalud.org)
  • 0.05) in their allelic distribution and genotype frequency. (usuhs.edu)
  • Our results (N = 82) show that a polymorphism in CD38 (rs3796863), previously linked with increased release of oxytocin in adults, was associated with higher reported rates of cuddliness. (bvsalud.org)
  • Evidence of shared genetic effects was evaluated by aggregating meta-analyzed univariate results across the 6 continuous electrocardiographic traits using the combined phenotype adaptive sum of powered scores test. (elsevierpure.com)
  • however, the results have been mixed, and there have been few studies investigating the relationship between this polymorphism and suicide attempt lethality. (psychiatryinvestigation.org)
  • The CYP1A1 3801T/C (also named MspI polymorphism, *2A or m1), results from a replacement of thymine by a cytosine at the 3801st base pair in the 3' flanking region of the gene [ 9 , 10 ]. (springeropen.com)
  • This study demonstrates the possibility that the rs6265 polymorphism of the BDNF gene could be used as a genetic marker to predict the lethality of suicide attempts, but more replication studies are needed for the application of this result in clinical practice. (psychiatryinvestigation.org)
  • The combination of pregnancy exposure information, genetic data, detailed clinical information about the birth defects, and family histories is a unique resource. (cdc.gov)
  • Abundant evidence has shown that serotonin-related gene polymorphisms played an important role in the clinical effects of antidepressants. (researchsquare.com)
  • we carried out a systematic analysis based on 5001 Spanish or Latin American individuals with diagnostic exome data, either Whole Exome Sequencing (80%), or the so-called Clinical Exome Sequencing (20%) (60?Mb and 17?Mb, respectively), to provide with global and gene-specific clinical pharmacogenetic utility data. (cdc.gov)
  • This study aimed to examine the contribution of genotypes of DNA double-strand break repair gene X-ray repair cross complementing protein 3 (XRCC3) and its polymorphisms to asthma risk in the Taiwanese. (iiarjournals.org)
  • Polymorphisms in the regulatory regions of cytokine genes affect protein production and are associated with allograft outcome. (usuhs.edu)
  • C-Reactive Protein and Interleukin-6 polymorphisms are among the objects of current investigations. (ijbls.org)
  • But when several genes are telling the same story, you're more confident that you've got the history right," said Cavalli-Sforza's longtime Stanford collaborator Peter Underhill, PhD, senior research scientist in genetics, in Stanford Medicine magazine. (stanford.edu)
  • In more than half of the cases, ET is inherited in an autosomal dominant manner, but no causative ET gene has been identified. (nel.edu)
  • For each patient and control we measured lipid parameters, CRP-us and sought the G894T polymorphism of eNOS gene by PCR-RFLP. (scirp.org)
  • The relationship between TaqIB gene polymorphism and the LMCAD was independent of lipid profile, with the exception of apolipoprotein A. (biomedcentral.com)
  • Conclusion: The G894T polymorphism of eNOS gene appears to be a risk factor of T2DM. (scirp.org)
  • The main objective of the study was to determine the G894T SNP in the eNOS gene such as risk factor for T2DM in Tunisian population. (scirp.org)
  • Genetic mapping has proved to be effective in disease-risk prediction. (livemint.com)
  • We assessed suicide lethality in 258 individuals who had attempted suicide using the relative risk ratio (RRR) scale and by genotyping the rs6265 polymorphism of the BDNF gene. (psychiatryinvestigation.org)
  • The NBDPS was a multisite, population-based, case-control study of genetic and non-genetic risk factors for major structural birth defects that included women with deliveries between 1997 and 2011. (cdc.gov)
  • While the causes of most birth defects remain unknown, there are likely to be combinations of genetic and environmental risk factors involved. (cdc.gov)
  • A polymorphism on hepatocellular carcinoma (HCC) risk. (biomedcentral.com)
  • A polymorphism and the risk of HCC, which were estimated by odds ratios (ORs) and their 95% confidence intervals (95% CIs). (biomedcentral.com)
  • A polymorphism was associated with increased HCC risk in a Han Chinese population. (biomedcentral.com)
  • AgP occurs most often at a younger age (up to 35 years old) and these cases involve more genetic risk factors than CP cases (see Fig. 2). (efp.org)
  • However, the phenotypes AgP and CP may not be as distinct as previously assumed and thus may not really be separate entities, because they do share genetic and other risk factors. (efp.org)
  • This has helped researchers to focus on well-described case-control studies, something that is much needed in the search for genetic risk factors. (efp.org)
  • Risk Stratification for Early-Onset Colorectal Cancer Using a Combination of Genetic and Environmental Risk Scores: An International Multi-Center Study. (who.int)
  • Substantial evidence has shown that the BDNF gene has a connection with the genetic etiology of psychiatric disorders and suicidal behavior [ 5 ]. (psychiatryinvestigation.org)
  • Evidence indicates that the CYP19 gene is a positional and functional candidate for genetic study in polycystic ovarian syndrome (PCOS). (nel.edu)
  • many drugs are metabolized by enzymes that are encoded by polymorphically expressed genes. (medscape.com)
  • Xenobiotic-metabolizing enzymes ( XME ), coded by a family of xenobiotic-metabolizing genes ( XMG ), have a major role in elimination of many xenobiotics or environmental chemical compounds from the body. (springeropen.com)
  • The polymorphisms associated with warfarin sensitivity often differ by population and ethnic background. (medlineplus.gov)
  • This observation indicates that the genetic background of ALS may differ between countries and regions. (bmj.com)
  • We identified putative causal genes, including SLC6A20, CXCR6, CCR9, and CCR5 in the locus on 3p21.31, quantifying their effect on mediating expression and on severe COVID-19. (cdc.gov)
  • Recent advances have been made in the of host factors, polymorphisms, and candidate genes associated characterization of the immune response to low-molecular- with occupational asthma may improve our understanding of weight agents. (cdc.gov)