Chen Wei-Chiao, Wang Wen-Chang, Okada Yukinori, Chang Wei-Pin, Chou Yii-Her, Chang Hui-Hua, Huang Jin-Ding, Chen Der-Yuan, Chang Wei-Chiao
Institute of Clinical Pharmacy and Pharmaceutical Sciences, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
The Ph.D. Program for Translational Medicine, College of Medical Science and Technology, Taipei Medical University, Taipei, Taiwan.
Oncotarget. 2017 Jul 18;8(38):64180-64190. doi: 10.18632/oncotarget.19419. eCollection 2017 Sep 8.
Rheumatoid arthritis (RA) is one of the most common autoimmune diseases, can lead to long-term joint damage, chronic pain, and loss of motor function in the hands, and may share some common genetic factors with other autoimmune disorders, such as ankylosing spondylitis (AS). Many single-nucleotide polymorphisms (SNPs) were reported by genome-wide association studies (GWASs) of RA, but some of them have not been examined in the Taiwanese population. In this study, for 15 SNPs reported in previous RA and AS GWASs, we investigated their association with RA in a Taiwanese population. Based on 334 RA patients recruited from the Taichung Veterans General Hospital and 16,036 healthy subjects from the Taiwan Biobank (TWB) project, we observed that subjects having minor allele C at rs2841277 ( ()) have lower susceptibility of RA, compare to those having genotype TT (Odds ratio (OR) = 0.6, = 3.0 × 10). Among the RA patients, we observed that subjects having GG at rs4672495 have a lower proportion of severe RA, compare to other subjects (OR = 0.09, = 5.6 × 10). Results of a bioinformatics approach showed that rs2841277 is able to influence expression of and and rs4672495 is able to influence the expression of . In summary, this study replicated an association of rs2841277 with RA susceptibility and showed an AS-associated SNP, rs4672495, is associated with RA activity in the Taiwanese population.
类风湿性关节炎(RA)是最常见的自身免疫性疾病之一,可导致长期的关节损伤、慢性疼痛以及手部运动功能丧失,并且可能与其他自身免疫性疾病,如强直性脊柱炎(AS),共享一些共同的遗传因素。类风湿性关节炎的全基因组关联研究(GWAS)报告了许多单核苷酸多态性(SNP),但其中一些尚未在台湾人群中进行检测。在本研究中,针对先前类风湿性关节炎和强直性脊柱炎GWAS报告的15个SNP,我们在台湾人群中调查了它们与类风湿性关节炎的关联。基于从中部荣民总医院招募的334例类风湿性关节炎患者和台湾生物银行(TWB)项目的16036名健康受试者,我们观察到,与基因型为TT的受试者相比,rs2841277位点携带次要等位基因C的受试者患类风湿性关节炎的易感性较低(优势比(OR)=0.6,P = 3.0×10)。在类风湿性关节炎患者中,我们观察到,与其他受试者相比,rs4672495位点基因型为GG的受试者严重类风湿性关节炎的比例较低(OR = 0.09,P = 5.6×10)。生物信息学方法的结果表明,rs2841277能够影响[具体基因1]和[具体基因2]的表达,而rs4672495能够影响[具体基因3]的表达。总之,本研究重复了rs2841277与类风湿性关节炎易感性的关联,并表明一个与强直性脊柱炎相关的SNP,rs4672495,在台湾人群中与类风湿性关节炎活动相关。