Hao Gui-Feng, Li Ya-Song, Liu Jin-Lin, Wo Ming-Yi
Department of Rheumatology, Zhejiang Provincial People's Hospital Hangzhou 310014, Zhejiang, China.
Department of Clinical Laboratory, Zhejiang Provincial People's Hospital Hangzhou 310014, Zhejiang, China.
Int J Clin Exp Pathol. 2014 Oct 15;7(11):8155-8. eCollection 2014.
HLA-DQA1 (rs9272219) has been previously reported that it is a susceptibility locus in rheumatoid arthritis (RA) of UK Caucasian population and North American; however, it has not reported in RA of Chinese population. Our study was to identify whether or not this relationship is reside between rs9272219 and RA in a Han Chinese population. 207 patients with RA and 199 control subjects were recruited. The single nucleotide polymorphism (SNP) of rs9272219 was tested in alleles and genotype frequencies and the data was analyzed by doing the statistic analysis of odds ratio (OR) and 95% confidence interval (CI) from multivariate unconditional logistic regression analyses after pairwise linkage disequilibrium (LD) was estimated. Finally, the Alleles and genotype frequencies distribution of rs9272219 locus among RA patients and control subjects were in accordance with Hardy-Weinberg equilibrium. We found significant association between rs9272219 and RA of Chinese population (OR 0.494, 95% confidence interval [95% CI] 0.354-0.688, P = 0 and OR 2.541, 95% CI 1.695-3.808, P = 0, respectively). In this study, we found that the SNP of rs9272219 in HLA-DQA1 is a potential susceptibility locus in RA of Han Chinese population; the results suggest that HLA-DQA1 may be related to the development of RA.
先前已有报道称，HLA - DQA1（rs9272219）是英国白种人群体和北美类风湿关节炎（RA）的一个易感基因座；然而，在中国人群体的RA中尚未见相关报道。我们的研究旨在确定rs9272219与中国汉族人群RA之间是否存在这种关系。招募了207例RA患者和199例对照受试者。对rs9272219的单核苷酸多态性（SNP）进行等位基因和基因型频率检测，并在估计成对连锁不平衡（LD）后，通过多变量无条件逻辑回归分析进行比值比（OR）和95%置信区间（CI）的统计分析来分析数据。最后，rs9272219位点在RA患者和对照受试者中的等位基因和基因型频率分布符合哈迪 - 温伯格平衡。我们发现rs9272219与中国人群体的RA之间存在显著关联（分别为OR 0.494，95%置信区间[95%CI] 0.354 - 0.688，P = 0；以及OR 2.541，95%CI 1.695 - 3.808，P = 0）。在本研究中，我们发现HLA - DQA1中rs9272219的SNP是中国汉族人群RA的一个潜在易感基因座；结果表明HLA - DQA1可能与RA的发病机制有关。
