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一项多基因座遗传研究表明,自身免疫相关基因与意大利患者的银屑病关节炎有关。

A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients.

机构信息

Department of Biomedicine and Prevention, Section of Genetics, University of Rome "Tor Vergata", 00133 Rome, Italy.

Rheumatology, Allergology and Clinical Immunology, Department of System Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy.

出版信息

Immunobiology. 2022 Jul;227(4):152232. doi: 10.1016/j.imbio.2022.152232. Epub 2022 May 23.

DOI:10.1016/j.imbio.2022.152232
PMID:35642993
Abstract

Psoriatic Arthritis (PsA) is an immune-mediated rheumatic disease caused by the interaction between environmental factors and genetic predisposition. Many of the risk loci associated with PsA susceptibility are shared with other autoimmune diseases, suggesting an involvement of the same pathways in these diseases. We investigated the association between nine selected polymorphisms and PsA susceptibility and their possible role in the modulation of the disease activity. We analysed 163 patients with PsA and 298 age and sex-matched healthy subjects. Our results showed the associations of five polymorphisms with the disease development: rs33980500 (TRAF3IP2), rs6920220 (TNFAIP3), rs27524 (ERAP1), rs7574865 (STAT4) and rs1800872 (IL10). Patients carrying the variant allele of TRAF3IP2 polymorphism had a higher number of tender/swollen joints and a higher Disease Activity Index for PsA score. The multilocus genetic risk profile showed a higher probability to develop the disease in subjects with at least four risk alleles.

摘要

银屑病关节炎(PsA)是一种由环境因素和遗传易感性相互作用引起的免疫介导性风湿病。许多与 PsA 易感性相关的风险基因座与其他自身免疫性疾病共享,这表明这些疾病涉及相同的途径。我们研究了九个选定的多态性与 PsA 易感性的关联及其在疾病活动调节中的可能作用。我们分析了 163 例 PsA 患者和 298 名年龄和性别匹配的健康对照者。我们的结果显示,五个多态性与疾病的发生有关:rs33980500(TRAF3IP2)、rs6920220(TNFAIP3)、rs27524(ERAP1)、rs7574865(STAT4)和 rs1800872(IL10)。携带 TRAF3IP2 多态性变异等位基因的患者有更多的压痛/肿胀关节和更高的银屑病关节炎疾病活动指数评分。多基因遗传风险谱显示,至少有四个风险等位基因的受试者发生疾病的概率更高。

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