全基因组关联分析确定了三个银屑病易感性基因座。
Genome-wide association analysis identifies three psoriasis susceptibility loci.
机构信息
Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
出版信息
Nat Genet. 2010 Nov;42(11):1000-4. doi: 10.1038/ng.693. Epub 2010 Oct 17.
We carried out a meta-analysis of two recent psoriasis genome-wide association studies with a combined discovery sample of 1,831 affected individuals (cases) and 2,546 controls. One hundred and two loci selected based on P value rankings were followed up in a three-stage replication study including 4,064 cases and 4,685 controls from Michigan, Toronto, Newfoundland and Germany. In the combined meta-analysis, we identified three new susceptibility loci, including one at NOS2 (rs4795067, combined P = 4 × 10⁻¹¹), one at FBXL19 (rs10782001, combined P = 9 × 10⁻¹⁰) and one near PSMA6-NFKBIA (rs12586317, combined P = 2 × 10⁻⁸). All three loci were also associated with psoriatic arthritis (rs4795067, combined P = 1 × 10⁻⁵; rs10782001, combined P = 4 × 10⁻⁸; and rs12586317, combined P = 6 × 1⁻⁵) and purely cutaneous psoriasis (rs4795067, combined P = 1 × 10⁻⁸; rs10782001, combined P = 2 × 10⁻⁶; and rs12586317, combined P = 1 × 10⁻⁶). We also replicated a recently identified association signal near RNF114 (rs495337, combined P = 2 × 10⁻⁷).
我们对两项最近的银屑病全基因组关联研究进行了荟萃分析，合并发现样本包括 1831 名受影响个体（病例）和 2546 名对照。根据 P 值排名选择了 102 个基因座，在包括来自密歇根州、多伦多、纽芬兰和德国的 4064 例病例和 4685 例对照的三阶段复制研究中进行了随访。在合并的荟萃分析中，我们确定了三个新的易感基因座，包括一个位于 NOS2（rs4795067，合并 P = 4×10⁻¹¹）、一个位于 FBXL19（rs10782001，合并 P = 9×10⁻¹⁰）和一个位于 PSMA6-NFKBIA 附近（rs12586317，合并 P = 2×10⁻⁸）。这三个基因座也与银屑病关节炎（rs4795067，合并 P = 1×10⁻⁵；rs10782001，合并 P = 4×10⁻⁸；和 rs12586317，合并 P = 6×1⁻⁵）和纯皮肤银屑病（rs4795067，合并 P = 1×10⁻⁸；rs10782001，合并 P = 2×10⁻⁶；和 rs12586317，合并 P = 1×10⁻⁶）有关。我们还复制了最近在 RNF114 附近发现的一个关联信号（rs495337，合并 P = 2×10⁻⁷）。
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