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Genetic variation in genes involved in folate and drug metabolism in a south Indian population.

ABSTRACT: BACKGROUND:Genetic variations represented as single nucleotide polymorphisms (SNPs) vary across the world population. This genetic polymorphism (such as SNPs) plays an important role in pharmacogenomics. SNPs that affects cellular metabolism, by altering the enzyme activity, have an important role in therapeutic outcome. Allele frequencies in number of clinically relevant SNPs within south Indian populations are not yet known. Hence, we genotyped randomly selected unrelated south Indian subjects from different locations of south India representing the heterogeneous ethnic background of the population. MATERIALS AND METHODS:Common variants of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULT1A1 gene polymorphisms were screened from healthy unrelated south Indian volunteers. Genotypes were determined using RFLP analysis of polymerase chain reaction-amplified products and confirmed by DNA sequencing. Chi-square test was performed to test for deviation from the Hardy-Weinberg equilibrium for each locus. RESULTS:Gene allele frequency for several polymorphisms in our study differed significantly between the populations of other nations reported for several of the SNPs. These results demonstrate that the populations in different geographic regions may have widely varying genetic allele frequencies for clinically relevant SNPs. CONCLUSION:The present study reports, for the first time, the frequency distribution of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULTIA1 gene polymorphisms in a south Indian population. Population-specific genetic polymorphism studies will help in practicing pharmacogenomic principles in the clinics.

SUBMITTER: Rai PS

PROVIDER: S-EPMC3125048 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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Genetic variation in genes involved in folate and drug metabolism in a south Indian population.

Rai Padmalatha S PS Murali T S TS Vasudevan T G TG Prasada Shama K SK Bhagavath Ashok Kumar AK Pai Pranita P Gopinath P M PM Satyamoorthy K K

Indian journal of human genetics 20110501

<h4>Background</h4>Genetic variations represented as single nucleotide polymorphisms (SNPs) vary across the world population. This genetic polymorphism (such as SNPs) plays an important role in pharmacogenomics. SNPs that affects cellular metabolism, by altering the enzyme activity, have an important role in therapeutic outcome. Allele frequencies in number of clinically relevant SNPs within south Indian populations are not yet known. Hence, we genotyped randomly selected unrelated south Indian ...[more]

PMID: 21747588

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Project description:Folic acid is critically important for normal neural development and has been implicated in pediatric brain tumor (PBT) risk. However, much work remains in understanding the genetic basis of these associations among at-risk populations. Therefore, we examined inherited variation in folate metabolism genes on PBT risk in individuals with Neurofibromatosis Type 1 (NF1), a cancer predisposition syndrome. We also evaluated maternal genetic variation in these genes that could serve as a proxy for the intrauterine nutrient environment that may be important in PBT development. We recruited 56 families with a child with NF1 and a PBT from the Washington University NF1 Patient Registry Initiative (NPRI) (https://nf1registry.wustl.edu/) or the St. Louis Children's Hospital Neurofibromatosis Clinical Program. DNA isolated from blood or buccal samples representing 45 triads (mother, father, child) and 11 dyads (mother, child) were analyzed using 49 tag single nucleotide polymorphisms (SNPs) genotyped on the Sequenom platform. Odds ratios (ORs) and 95% confidence intervals (CIs) for associations between maternal and offspring minor alleles and PBTs were estimated using log linear regression models. Significant/marginally significant associations between PBTs and each additional offspring copy of the minor allele were found for MTRR rs10520873 (OR = 0.5; 95% CI 0.3-1.0); MTR rs4659745 (OR = 0.5, 95% CI 0.2-0.9), rs3768147 (OR = 1.9; 1.1-3.3), rs12759827 (OR = 0.5, 95% CI 0.3-1.0); and DHFR rs10072026 (OR = 0.2; 95% CI 0.03-0.7). For maternal SNPs, significant/marginally significant associations were observed with each additional maternal copy of the minor allele for MTRR rs1802056 (OR = 1.94; 95% CI 1.1-3.6); SLC19A1 rs1051298 (OR = 2.0; 95% CI 1-3.4), rs2838957 (OR = 1.8; 1.0-3.4), rs4818789 (OR = 1.9; 95% CI 1.0-3.8), TYMS rs15872 (OR = 0.6; 95 %CI 0.3-1.0); and MTHFR rs3737964 (OR = 2.1; 95%CI 1.0-4.5) and rs1801133 (OR = 0.4; 95% CI 0.2-0.8). While our findings require validation, they suggest that inherited and maternal genetic variation in folate metabolic genes may influence PBT risk in children with NF1.

Dataset Information

Genetic variation in genes involved in folate and drug metabolism in a south Indian population.

Publications

Genetic variation in genes involved in folate and drug metabolism in a south Indian population.

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