4.8 Article

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

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NATURE GENETICS
卷 40, 期 2, 页码 152-154

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NATURE PUBLISHING GROUP
DOI: 10.1038/ng.71

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  1. NCRR NIH HHS [RR020143, RR01577, RR14467] Funding Source: Medline
  2. NHLBI NIH HHS [HL 34363] Funding Source: Medline
  3. NIAID NIH HHS [AI31584, AI24717, AI044902, AI063622, AI053747] Funding Source: Medline
  4. NIAMS NIH HHS [P30 AR053483, AR12253, AR049084, AR048940, AR048928, AR42460] Funding Source: Medline
  5. NIDCR NIH HHS [DE15223] Funding Source: Medline

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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)beta(2)-integrin adhesion pathway in disease development.

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