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). 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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