Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis

Ann Neurol. 2004 Jun;55(6):793-800. doi: 10.1002/ana.20092.

Abstract

A large body of research supports a multifactorial cause in multiple sclerosis (MS), with an underlying genetic susceptibility likely acting in concert with undefined environmental exposures. Here, we used a highly efficient multilocus genotyping assay to study single nucleotide polymorphisms representing variation in 34 genes from inflammatory pathways in a well-characterized MS familial data set. Evidence of transmission distortion was present for several polymorphisms. Results for the NOS2A locus (exon 10 C/T, D346D) on chromosome 17q11 remained significant after correction for multiple testing and were reproduced in a second independent African American MS data set. In addition, linkage to a NOS2A promoter region polymorphism, (CCTTT)(n), was present in a third data set of multicase MS families. Our results provide strong evidence for linkage and association to a new candidate disease gene on chromosome 17q11 in MS and suggest that variation within NOS2A or a nearby locus contributes to disease susceptibility.

Publication types

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

MeSH terms

  • Adult
  • Black or African American
  • Case-Control Studies
  • Chromosomes, Human, Pair 17*
  • Exons / genetics
  • Family Health
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • HLA-DR2 Antigen
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Multiple Sclerosis / epidemiology
  • Multiple Sclerosis / genetics*
  • Nitric Oxide Synthase / genetics*
  • Polymorphism, Single Nucleotide

Substances

  • HLA-DR2 Antigen
  • Nitric Oxide Synthase