Psoriatic Arthritis Program, Centre for Prognosis Studies in The Rheumatic Diseases, Toronto Western Hospital, Toronto, Ontario, Canada.
Hum Immunol. 2013 Oct;74(10):1333-8. doi: 10.1016/j.humimm.2013.07.014. Epub 2013 Aug 2.
Our purpose was to determine associations between HLA alleles and psoriatic arthritis (PsA).
678 PsA cases and 688 healthy controls were analyzed in a case-control design. The difference in the proportion of cases and controls with at least 1 copy of HLA alleles were tested for significance using χ(2) test and Fisher's exact test. Association analyses of haplotypes inferred by the Expectation-Maximization algorithm were performed. In the family-based association study, data from 283 families were analyzed.
Univariate analysis revealed that cases were more likely to be carriers of HLA-C01, -C02, -C06, -C12, -B27, -B38 and -B57, whereas controls were more likely to be carriers of HLA-C03, -C07, -B07, -B51, -DRB115 and -DQB10602. In haplotype analyses, PsA cases were more likely to be carriers of the HLA haplotypes -C01/-B27, -C02/-B27, -C12/-B38, and -C06/-B57, while controls were more likely to be carriers of the haplotypes -C07/-B07 and -C15/-B51. In the family-based association analysis, the HLA alleles -A02, -B27 and -DRB107 were preferentially transmitted to cases, whereas the alleles -A03, -A28, -B51, -DRB111 and -DQB1*0301 were under transmitted.
This large case-control and family based association study shows that HLA-C12/B38, HLA-B27 and HLA-C06/B*57 are haplotypes (alleles) robustly associated with PsA. However, since patients with PsA also have psoriasis it is difficult to determine whether the primary association is with arthritis or psoriasis.
本研究旨在探讨人类白细胞抗原(HLA)等位基因与银屑病关节炎(PsA)之间的关联。
采用病例对照设计,分析了 678 例 PsA 病例和 688 例健康对照者。采用卡方检验和 Fisher 确切概率法比较病例组和对照组至少携带 1 份 HLA 等位基因的比例差异。采用期望最大化算法推断单体型,并进行关联分析。在基于家系的关联研究中,分析了 283 个家系的数据。
单因素分析显示,病例组更易携带 HLA-C01、-C02、-C06、-C12、-B27、-B38 和 -B57,而对照组更易携带 HLA-C03、-C07、-B07、-B51、-DRB115 和 -DQB10602。单体型分析显示,PsA 病例组更易携带 HLA 单体型-C01/-B27、-C02/-B27、-C12/-B38 和 -C06/-B57,而对照组更易携带 HLA 单体型-C07/-B07 和 -C15/-B51。基于家系的关联分析显示,HLA 等位基因-A02、-B27 和 -DRB107 优先传递给病例,而等位基因-A03、-A28、-B51、-DRB111 和 -DQB1*0301 则呈非传递性。
本大规模病例对照和基于家系的关联研究表明,HLA-C12/B38、HLA-B27 和 HLA-C06/B*57 与 PsA 存在显著关联。然而,由于 PsA 患者也患有银屑病,因此难以确定主要关联是与关节炎还是银屑病有关。