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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Biotechnology, Manipal Life Sciences Center, Manipal University, Manipal, India.
authors: Padmalatha S
authors: PS
authors: Rai
authors: T S
authors: TS
authors: Murali
authors: T G
authors: TG
authors: Vasudevan
authors: Shama K
authors: SK
authors: Prasada
authors: Ashok Kumar
authors: AK
authors: Bhagavath
authors: Pranita
authors: P
authors: Pai
authors: P M
authors: PM
authors: Gopinath
authors: K
authors: K
authors: Satyamoorthy