Medknow Publications on behalf of Indian Society of Human Genetics
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