A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus

Nat Genet. 2008 Feb;40(2):152-4. doi: 10.1038/ng.71. Epub 2008 Jan 20.

Abstract

We identified and replicated an association between ITGAM (CD11b) at 16p11.2 and risk of systemic lupus erythematosus (SLE) in 3,818 individuals of European descent. The strongest association was at a nonsynonymous SNP, rs1143679 (P = 1.7 x 10(-17), odds ratio = 1.78). We further replicated this association in two independent samples of individuals of African descent (P = 0.0002 and 0.003; overall meta-analysis P = 6.9 x 10(-22)). The genetic association between ITGAM and SLE implicates the alpha(M)beta2-integrin adhesion pathway in disease development.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • 3' Untranslated Regions
  • African Americans
  • Alleles
  • CD11b Antigen / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 16
  • Cohort Studies
  • Confidence Intervals
  • Exons
  • Gene Frequency
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Haplotypes
  • Humans
  • Lupus Erythematosus, Systemic / ethnology
  • Lupus Erythematosus, Systemic / genetics*
  • Models, Genetic
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Probability
  • Promoter Regions, Genetic
  • Risk Factors
  • Whites

Substances

  • 3' Untranslated Regions
  • CD11b Antigen
  • Genetic Markers
  • ITGAM protein, human