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银屑病关节炎的遗传学:全基因组关联研究的经验教训

The genetics of psoriatic arthritis: lessons from genome-wide association studies.

作者信息

Bowes John, Barton Anne

机构信息

Arthritis Research UK Epidemiology Unit, Manchester Academic Health Science Centre, The University of Manchester, Manchester M13 9PT, United Kingdom.

出版信息

Discov Med. 2010 Sep;10(52):177-83.

PMID:20875338
Abstract

Psoriatic arthritis (PsA) occurs in approximately 30% of psoriasis patients. Understanding the similarities and differences in the etiology of these related diseases may highlight pathways for intervention and allow risk prediction in the future. Both are complex diseases in which environmental susceptibility factors trigger disease in genetically susceptible individuals. In recent years, genome-wide association studies have been highly successful in identifying genetic susceptibility factors for psoriasis. Most of the psoriasis loci tested so far are also associated with PsA. For example, associations of HLA-Cw*06 and the IL12B and IL23R genes are well-established with both conditions. More recently, analysis of psoriasis genome-wide association studies in a PsA subgroup has also implicated IL23A, TNFAIP3, and TNIP1 genetic variants as conferring risk to PsA. One study has suggested that late cornified envelope (LCE) gene polymorphisms are associated with psoriasis but not PsA. However, this finding was not confirmed by a second study. Similarly, association of the 5q31 gene region encompassing the IL13 gene has been reported with PsA but not psoriasis by one group, but this awaits confirmation in other series. Dedicated genome-wide association studies of PsA are underway and are likely to reveal further insights into why some patients with psoriasis develop arthritis whilst the majority do not.

摘要

银屑病关节炎(PsA)发生于约30%的银屑病患者中。了解这些相关疾病病因的异同可能会凸显干预途径,并有助于未来的风险预测。两者都是复杂疾病,环境易感性因素在遗传易感性个体中引发疾病。近年来,全基因组关联研究在识别银屑病的遗传易感性因素方面取得了巨大成功。目前检测的大多数银屑病基因座也与PsA相关。例如,HLA-Cw*06、IL12B和IL23R基因与这两种疾病的关联已得到充分证实。最近,对PsA亚组的银屑病全基因组关联研究分析也表明,IL23A、TNFAIP3和TNIP1基因变异会增加患PsA的风险。一项研究表明,晚期角质化包膜(LCE)基因多态性与银屑病相关,但与PsA无关。然而,第二项研究并未证实这一发现。同样,一组研究报告称,包含IL13基因的5q31基因区域与PsA相关,但与银屑病无关,但这一结果有待其他研究系列的证实。专门针对PsA的全基因组关联研究正在进行中,可能会进一步揭示为什么一些银屑病患者会发展为关节炎而大多数患者不会。

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