A nonsynonymous functional variant in integrin-αM (encoded by ITGAM) is associated with systemic lupus erythematosus
A nonsynonymous functional variant in integrin-αM (encoded by ITGAM) is associated with systemic lupus erythematosus
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DOI：
10.1038/ng.71
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发表时间：
2008-02-01
期刊：
影响因子：
30.8
通讯作者：
Harley, John B.
中科院分区：
文献类型：
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作者：
Nath, Swapan K.;Han, Shizhong;Harley, John B.
我们在3，818名欧洲血统个体中确定并复制了16 p11.2处ITGAM（CD11b）与系统性红斑狼疮（SLE）风险之间的关联。最强的关联是在非同义SNP rs1143679（P 1.7 x 10（-17），比值比1.78）。我们在两个独立的非洲裔个体样本中进一步复制了这种关联（P = 0.0002和0.003;总体荟萃分析P 6.9 x 10（-22））。ITGAM和SLE之间的遗传关联暗示了疾病发展中的α（M）β（2）-整合素粘附途径。
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.