A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus by Nath Swapan K, Han Shizhong, Kim-Howard Xana, Kelly Jennifer A, Viswanathan Parvathi, Gilkeson Gary S, Chen Wei, Zhu Cheng, McEver Rodger P, Kimberly Robert P, Alarcón-Riquelme Marta E, Vyse Timothy J, Li Quan-Zhen, Wakeland Edward K, Merrill Joan T, James Judith A, Kaufman Kenneth M, Guthridge Joel M, Harley John B in Nature genetics (2008).

[PMID: 18204448] PubMed


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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