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

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Affiliations

  • 1. Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, 825 NE 13th St., Oklahoma City, Oklahoma 73104, USA.
      Authors
    • Nath SK 1
    (1 author)

ORCIDs linked to this article

Nature Genetics, 20 Jan 2008, 40(2):152-154
https://doi.org/10.1038/ng.71 PMID: 18204448 

A comment on this article appears in "The developing mosaic of autoimmune disease risk." Nat Genet. 2008 Feb;40(2):131-2.

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.

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