Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
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作者：
系统性红斑狼疮（systemic lupus erythematosus，SLE）是一种常见的系统性自身免疫性疾病，病因复杂，家族聚集性强（λS = ~30）。我们使用317,501个SNPs对720名欧洲血统SLE患者和2,337名对照进行了全基因组关联扫描，并在另外两个独立样本集中对1,846名受影响妇女和1,825名对照进行了一致相关的SNPs基因分型。除了预期的SLE与染色体6p 21上的HLA区域和先前证实的染色体7 q32上的非HLA基因座IRF 5之间的强关联外，我们还发现了与复制相关的证据。（1.1 × 10 - 7 <P总体< 1.6 × 10 - 23;比值比0.82-1.62）在四个区域：16p11.2（ITGAM），11p15.5（KIAA 1542），3p14.3（PXK）和1q25.1（rs 10798269）。我们还发现了FCGR 2A、PTPN 22和STAT 4与SLE和其他自身免疫性疾病相关的证据（P < 1 × 10−5），以及≥9个其他位点（P < 2 × 10−7）。我们的研究结果表明，许多基因，一些已知的免疫相关功能，易患系统性红斑狼疮。
Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with complex etiology but strong clustering in families (λS = ~30). We performed a genome-wide association scan using 317,501 SNPs in 720 women of European ancestry with SLE and in 2,337 controls, and we genotyped consistently associated SNPs in two additional independent sample sets totaling 1,846 affected women and 1,825 controls. Aside from the expected strong association between SLE and the HLA region on chromosome 6p21 and the previously confirmed non-HLA locus IRF5 on chromosome 7q32, we found evidence of association with replication (1.1 × 10−7 < Poverall < 1.6 × 10−23; odds ratio 0.82–1.62)in four regions: 16p11.2 (ITGAM), 11p15.5 (KIAA1542), 3p14.3 (PXK) and 1q25.1 (rs10798269). We also found evidence for association (P < 1 × 10−5) at FCGR2A, PTPN22 and STAT4, regions previously associated with SLE and other autoimmune diseases, as well as at ≥9 other loci (P < 2 × 10−7). Our results show that numerous genes, some with known immune-related functions, predispose to SLE.
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