Prevalence of eNOS Glu298Asp polymorphism in healthy volunteers from a region of Northern India

Community Genet. 2005;8(3):180-3. doi: 10.1159/000086761.

Abstract

Objective: Endothelial nitric oxide synthase (eNOS) Glu298Asp polymorphisms are under extensive study worldwide due to their suggested role in cardiovascular disorders. This polymorphism had gained more attention since several reports suggest its association with hypertension and coronary artery disease (CAD). Asian Indians are highly susceptible to ischemic heart dis eases. We determined the prevalence of eNOS Glu298 Asp polymorphism in 139 healthy volunteers from Delhi and the surrounding areas. The subjects were recruited from those who willingly participated in this study in response to a publicized call and a standard questionnaire. Male to female ratio was 2.7:1 due to the larger number of male participants in this investigation. This, however, does not represent normal male to female distribution in the area. Despite the male bias, this investigation was justified. The prevalence of CAD in males is about 3 times higher in this region and no data had so far been available on the distribution of this polymorphism from India.

Method: The eNOS Glu298Asp polymorphism was studied by PCR-RFLP.

Results: Distribution of genotype GG, GT and TT in the study subjects was found to be 71.22, 28.06 and 0.72%, respectively, and allele frequency was G,0.853;T,0.147.

Conclusion: T allele had been described as susceptibility allele for CAD in several population studies. The frequency of the T allele was found to be two times higher in our subjects than that reported for Japanese and Korean populations. This study does not provide any direct evidence for eNOS gene disease associations but is the first report on the prevalence of eNOS Glu298Asp gene polymorphism in Indian subjects. Whether the observed pattern of eNOS Glu298Asp polymorphism contributes to the greater susceptibility of Asian Indians to CAD as compared to the other population groups, needs to be investigated.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Aspartic Acid
  • DNA / genetics
  • DNA / isolation & purification
  • Electrophoresis, Agar Gel
  • Genetic Carrier Screening
  • Genotype
  • Glutamic Acid
  • Homozygote
  • Humans
  • India
  • Nitric Oxide Synthase Type III / genetics*
  • Polymorphism, Single Nucleotide*
  • Restriction Mapping

Substances

  • Aspartic Acid
  • Glutamic Acid
  • DNA
  • Nitric Oxide Synthase Type III