A functional variant of IRS1 is associated with type 1 diabetes in families from the US and UK

Mol Genet Metab. 2004 Apr;81(4):291-4. doi: 10.1016/j.ymgme.2003.10.018.

Abstract

A collection of 767 multiplex type 1 diabetes families from the US and UK were tested for linkage to the IRS1 gene and for allelic association with a specific variant of IRS1, G972R. Pedigree disequilibrium testing revealed preferential transmission of the 972R allele to affected offspring in these families (P = 0.02). Linkage analyses conditioning on status at IRS1 position 972 suggest the possibility of interaction with an unidentified locus on chromosome 8.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Alleles
  • Child
  • Child, Preschool
  • Cohort Studies
  • Diabetes Mellitus, Type 1 / genetics*
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Infant
  • Insulin Receptor Substrate Proteins
  • Lod Score
  • Male
  • Phosphoproteins / genetics*
  • United Kingdom
  • United States

Substances

  • IRS1 protein, human
  • Insulin Receptor Substrate Proteins
  • Phosphoproteins