Inducible nitric oxide synthase (NOS2) promoter CCTTT repeat polymorphism: relationship to in vivo nitric oxide production/NOS activity in an asymptomatic malaria-endemic population

Am J Trop Med Hyg. 2003 Dec;69(6):569-73.

Abstract

Polymorphisms in the inducible nitric oxide synthase gene (NOS2) promoter have been associated with clinical outcome from malaria. These include a CCTTT repeat (CCTTTn) 2.5 kilobases upstream from the NOS2 transcription start site, and two single nucleotide substitutions: G-->C at position -954 (G-954C), and C-->T at position -1173 (C-1173T). Although hypothesized to influence NO production in vivo, the functional relevance of (CCTTT)n and G-954C is uncertain because disease association studies have yielded inconsistent results. This study found no association between CCTTT repeat number and levels of plasma NO metabolites or peripheral blood mononuclear cell NOS activity in a cohort of asymptomatic malaria-exposed coastal Papua New Guineans 1-60 years old. This suggests that (CCTTT)n does not independently influence NOS2 transcription in vivo. Neither the G-954C nor the C-1173T polymorphisms were identified in this population, indicating the variability and complexity of selection for NOS2 promoter polymorphisms in different malaria-endemic populations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Endemic Diseases
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Malaria / blood
  • Malaria / epidemiology
  • Malaria / genetics*
  • Male
  • Native Hawaiian or Other Pacific Islander / genetics
  • Nitric Oxide / biosynthesis*
  • Nitric Oxide / blood
  • Nitric Oxide Synthase / biosynthesis*
  • Nitric Oxide Synthase / blood
  • Nitric Oxide Synthase / genetics*
  • Nitric Oxide Synthase Type II
  • Papua New Guinea / epidemiology
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics
  • Repetitive Sequences, Nucleic Acid

Substances

  • Nitric Oxide
  • NOS2 protein, human
  • Nitric Oxide Synthase
  • Nitric Oxide Synthase Type II