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Nature Research, Nature Genetics, 2(40), p. 152-154, 2008

DOI: 10.1038/ng.71

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

Journal article published in 2008 by Swapan K. Nath, Shizhong Han, Xana Kim-Howard, Jennifer A. Kelly, Parvathi Viswanathan, Gary S. Gilkeson, Wei Chen, Cheng Zhu, Rodger P. McEver, Robert P. Kimberly, Marta E. Alarcón-Riquelme ORCID, Timothy J. Vyse, Quan-Zhen Li, Edward K. Wakeland, Joan T. Merrill and other authors.
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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.