11 Citations (Scopus)

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.

Original languageEnglish
JournalIndian Journal of Human Genetics
Volume17
Issue numberSUPPL. 1
DOIs
Publication statusPublished - 01-05-2011

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Folic Acid
Single Nucleotide Polymorphism
Gene Frequency
Pharmaceutical Preparations
Population
Genes
Pharmacogenetics
Genetic Polymorphisms
Population Genetics
Chi-Square Distribution
DNA Sequence Analysis
Restriction Fragment Length Polymorphisms
India
Volunteers
Genotype
Polymerase Chain Reaction
Enzymes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

@article{f78e81008a094784a6fa2e2af57c0a0a,
title = "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.",
author = "Rai, {Padmalatha S.} and T. Murali and T. Vasudevan and Shama Prasada and Ashok Bhagavath and Pranita Pai and P. Gopinath and K. Satyamoorthy",
year = "2011",
month = "5",
day = "1",
doi = "10.4103/0971-6866.80359",
language = "English",
volume = "17",
journal = "Indian Journal of Human Genetics",
issn = "0971-6866",
publisher = "Medknow Publications and Media Pvt. Ltd",
number = "SUPPL. 1",

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Genetic variation in genes involved in folate and drug metabolism in a south Indian population. / Rai, Padmalatha S.; Murali, T.; Vasudevan, T.; Prasada, Shama; Bhagavath, Ashok; Pai, Pranita; Gopinath, P.; Satyamoorthy, K.

In: Indian Journal of Human Genetics, Vol. 17, No. SUPPL. 1, 01.05.2011.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genetic variation in genes involved in folate and drug metabolism in a south Indian population

AU - Rai, Padmalatha S.

AU - Murali, T.

AU - Vasudevan, T.

AU - Prasada, Shama

AU - Bhagavath, Ashok

AU - Pai, Pranita

AU - Gopinath, P.

AU - Satyamoorthy, K.

PY - 2011/5/1

Y1 - 2011/5/1

N2 - 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.

AB - 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.

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U2 - 10.4103/0971-6866.80359

DO - 10.4103/0971-6866.80359

M3 - Article

VL - 17

JO - Indian Journal of Human Genetics

JF - Indian Journal of Human Genetics

SN - 0971-6866

IS - SUPPL. 1

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