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

SK Nath, S Han, X Kim-Howard, JA Kelly… - Nature …, 2008 - nature.com
SK Nath, S Han, X Kim-Howard, JA Kelly, P Viswanathan, GS Gilkeson, W Chen, C Zhu
Nature genetics, 2008nature.com
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× 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× 10− 22). The genetic
association between ITGAM and SLE implicates the αMβ2-integrin adhesion pathway in …
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 × 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 × 10−22). The genetic association between ITGAM and SLE implicates the αMβ2-integrin adhesion pathway in disease development.
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