The CCTTT polymorphism in the NOS2A gene is associated with dementia with Lewy bodies

Neuroreport. 2000 Feb 7;11(2):297-9. doi: 10.1097/00001756-200002070-00015.


We report the analysis of the allele distribution of a (CCTTT)n pentanucleotide repeat within the promoter region of the NOS2A gene in DNA samples from patients with autopsy confirmed Alzheimer's disease (AD) and dementia with Lewy bodies (DLB) type. A significant difference was observed in the allelic distribution between the control group and the DLB group (chi2 = 15.175, df = 5; p<0.01), with an increased occurrence of the eight and nine repeat alleles, and a marked under representation of the 11 repeat allele. Genotype frequencies in the DLB group also differed significantly from controls (p<0.012). These results suggest that variations in the NOS2A gene may predispose to the development of DLB.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Alzheimer Disease / genetics
  • Alzheimer Disease / pathology
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Lewy Body Disease / etiology
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / pathology
  • Microsatellite Repeats / genetics*
  • Nitric Oxide Synthase / genetics*
  • Nitric Oxide Synthase Type II
  • Odds Ratio
  • Polymorphism, Genetic / genetics*
  • Reference Values


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