Zhang Yiqun, Zhang Hui, Huang Yong, Sun Rongbin, Liu Ruiping, Wei Jie
Department of Ophthalmology, Affiliated Hospital of Suzhou University, Changzhou No. 4 People's Hospital, Changzhou, 213001, China.
Mol Biol Rep. 2014 Jun;41(6):4103-8. doi: 10.1007/s11033-014-3280-9. Epub 2014 Feb 25.
Rheumatoid arthritis (RA) is an autoimmune rheumatological disease thought to have substantial genetic contributions. Several genetic factors involved in the susceptibility to psoriasis and psoriatic arthritis (PsA) have been identified with genome-wide association studies, including human leukocyte antigen (HLA)-C, junction adhesion molecule 2 (JAM2) and REL. Psoriasis and PsA may share many features in common with RA. We hypothesized that this polymorphism may contribute to RA susceptibility in a Chinese population. We studied HLA-C rs10484554 C/T, HLA-C rs12212594 T/C, HLA-C rs12191877 C/T, JAM2 rs2829866 A/T and REL rs702873 G/A polymorphisms in 520 patients with RA and 520 controls in a Chinese population. HLA-C rs12191877 C/T polymorphism was in complete linkage disequilibrium (LD) (D' = 1.0, r (2) = 1.0) with HLA-C rs10484554 C/T polymorphism. When the HLA-C rs10484554 CC homozygote genotype was used as the reference group, the TT/CT genotypes were associated with a significantly decreased risk for RA (adjusted OR = 0.72, 95% CI = 0.52-0.99, p = 0.044). We found that the HLA-C rs12191877 C/T polymorphism was also associated with a decreased risk of RA. HLA-C rs12212594 T/C, JAM2 rs2829866 A/T and REL rs702873 G/A polymorphisms were not associated with the risk of RA. These results provide evidence that HLA-C polymorphisms are associated with a decreased risk of RA.
类风湿关节炎(RA)是一种自身免疫性风湿性疾病,被认为有很大的遗传因素。全基因组关联研究已经确定了几个与银屑病和银屑病关节炎(PsA)易感性相关的遗传因素,包括人类白细胞抗原(HLA)-C、连接黏附分子2(JAM2)和REL。银屑病和PsA可能与RA有许多共同特征。我们假设这种多态性可能导致中国人群患RA的易感性。我们在中国人群的520例RA患者和520例对照中研究了HLA-C rs10484554 C/T、HLA-C rs12212594 T/C、HLA-C rs12191877 C/T、JAM2 rs2829866 A/T和REL rs702873 G/A多态性。HLA-C rs12191877 C/T多态性与HLA-C rs10484554 C/T多态性处于完全连锁不平衡(LD)状态(D' = 1.0,r(2) = 1.0)。当将HLA-C rs10484554 CC纯合子基因型作为参照组时,TT/CT基因型与RA风险显著降低相关(校正OR = 0.72,95%CI = 0.52 - 0.99,p = 0.044)。我们发现HLA-C rs12191877 C/T多态性也与RA风险降低相关。HLA-C rs12212594 T/C、JAM2 rs2829866 A/T和REL rs702873 G/A多态性与RA风险无关。这些结果提供了证据,表明HLA-C多态性与RA风险降低相关。