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A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus |
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| Authors: | 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 |
| Affiliation: | Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, 825 NE 13th St., Oklahoma City, Oklahoma 73104, USA. Swapan-Nath@omrf.org |
| 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. |
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