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全基因组关联研究发现 TRAF3IP2 是银屑病易感性的新位点。

Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.

机构信息

Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany.

出版信息

Nat Genet. 2010 Nov;42(11):991-5. doi: 10.1038/ng.689. Epub 2010 Oct 17.

Abstract

Psoriasis is a multifactorial skin disease characterized by epidermal hyperproliferation and chronic inflammation, the most common form of which is psoriasis vulgaris (PsV). We present a genome-wide association analysis of 2,339,118 SNPs in 472 PsV cases and 1,146 controls from Germany, with follow-up of the 147 most significant SNPs in 2,746 PsV cases and 4,140 controls from three independent replication panels. We identified an association at TRAF3IP2 on 6q21 and genotyped two SNPs at this locus in two additional replication panels (the combined discovery and replication panels consisted of 6,487 cases and 8,037 controls; combined P = 2.36 × 10⁻¹⁰ for rs13210247 and combined P = 1.24 × 10⁻¹⁶ for rs33980500). About 15% of psoriasis cases develop psoriatic arthritis (PsA). A stratified analysis of our datasets including only PsA cases (1,922 cases compared to 8,037 controls, P = 4.57 × 10⁻¹² for rs33980500) suggested that TRAF3IP2 represents a shared susceptibility for PsV and PsA. TRAF3IP2 encodes a protein involved in IL-17 signaling and which interacts with members of the Rel/NF-κB transcription factor family.

摘要

银屑病是一种多因素的皮肤疾病,其特征为表皮过度增生和慢性炎症,其中最常见的形式为寻常型银屑病(PsV)。我们对来自德国的 472 例 PsV 病例和 1146 例对照进行了全基因组关联分析,共分析了 2339118 个单核苷酸多态性(SNP),并对这 147 个最显著的 SNP 进行了随访,随访对象为来自三个独立复制面板的 2746 例 PsV 病例和 4140 例对照。我们在 6q21 上发现了一个与 TRAF3IP2 相关的区域,并在另外两个复制面板中对该基因座的两个 SNP 进行了基因分型(包含发现和复制面板的总共 6487 例病例和 8037 例对照;rs13210247 的联合发现和复制 P 值为 2.36×10⁻¹⁰,rs33980500 的联合发现和复制 P 值为 1.24×10⁻¹⁶)。大约 15%的银屑病患者会发展为银屑病关节炎(PsA)。我们对包括仅 PsA 病例的数据集进行了分层分析(1922 例病例与 8037 例对照相比,rs33980500 的 P 值为 4.57×10⁻¹²),这表明 TRAF3IP2 是 PsV 和 PsA 的共同易感性基因。TRAF3IP2 编码一种参与 IL-17 信号传导的蛋白质,与 Rel/NF-κB 转录因子家族的成员相互作用。

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