Division of Rheumatology, Department of Medicine, University of Toronto, and Centre for Prognosis Studies in the Rheumatic Diseases, Toronto Western Hospital, Toronto, ON, Canada.
Clin Rev Allergy Immunol. 2013 Apr;44(2):149-56. doi: 10.1007/s12016-012-8303-5.
Genetic epidemiological studies have demonstrated a significant genetic basis to both psoriasis and psoriatic arthritis (PsA). Although candidate gene association studies had identified genes for disease susceptibility, recent genome-wide association studies have demonstrated robust associations both within and outside the major histocompatibility region on chromosome 6p. The susceptibility genes identified include HLA-C, IL13, IL4, TNFAIP3, IL23A, IL23R, IL28RA, REL, IFIH1, ERAP, TRAF3IP2, NFKBIA, TYK2, ZNF313, NOS2, FBXL19 and NFKBIA in subjects of European ethnicity and HLA-C, IL12B, LCE3D, ERAP1, TNIP1, PTTG1, CSMD1, GJB2, SERPINB8 and ZNF816A in subjects of Chinese ethnicity. These associations provide us with a model for the pathogenesis of psoriasis involving skin barrier function, innate and adaptive immunity. Gene-gene and gene-environmental interaction effects have also been demonstrated. However, loci identified to date do not fully account for the high heritability of psoriasis and PsA, and therefore many genetic as well as environmental factors and interaction effects remain to be determined. This article reviews the current status of genetic studies in psoriasis and PsA.
遗传流行病学研究表明，银屑病和银屑病关节炎（PsA）都有显著的遗传基础。虽然候选基因关联研究已经确定了疾病易感性的基因，但最近的全基因组关联研究已经在 6 号染色体主要组织相容性区域内和之外都证明了强大的关联。在欧洲血统的受试者中，确定的易感基因包括 HLA-C、IL13、IL4、TNFAIP3、IL23A、IL23R、IL28RA、REL、IFIH1、ERAP、TRAF3IP2、NFKBIA、TYK2、ZNF313、NOS2、FBXL19 和 NFKBIA，而在汉族血统的受试者中，确定的易感基因包括 HLA-C、IL12B、LCE3D、ERAP1、TNIP1、PTTG1、CSMD1、GJB2、SERPINB8 和 ZNF816A。这些关联为我们提供了一个涉及皮肤屏障功能、先天和适应性免疫的银屑病发病机制模型。基因-基因和基因-环境相互作用也已得到证实。然而，迄今为止确定的基因座并不能完全解释银屑病和 PsA 的高遗传性，因此还有许多遗传和环境因素以及相互作用有待确定。本文综述了银屑病和银屑病关节炎的遗传研究现状。
