Ren Tian-li, Han Zhi-jun, Yang Cheng-jian, Hang Yuan-xing, Fang De-yu, Wang Ke, Zhu Xue, Ji Xiao-Jing, Zhou Fan-fan
Department of Immunology and Rheumatology, the Second People's Hospital of Wuxi, Wuxi, 214002, People's Republic of China.
J Biochem Mol Toxicol. 2014 May;28(5):206-10. doi: 10.1002/jbt.21554. Epub 2014 Mar 5.
Rheumatoid arthritis (RA) is a chronic inflammatory disease with complex genetic factors. Single-nucleotide polymorphisms (SNPs) in the SLC22A4 gene have been previously reported to be associated with RA in Japanese but not European populations. This study further investigated the association of SLC22A4 polymorphisms, in particular slc2F1/slc2F2, with RA in the Chinese population, the largest Asian population. A total of 160 human subjects with 95 RA patients and 65 healthy controls were genotyped for slc2F1-G/A and slc2F2-C/T polymorphisms. The results showed that there was a significant difference in the genotype distribution of these two polymorphisms between the two groups. In addition, the presence of slc2F1 A allele and slc2F2 T allele carries a 1.93-fold and 2.14-fold increased risk for anticyclic citrullinated peptide (CCP) positivity, respectively. Overall, this study provided evidence that SLC22A4 gene polymorphisms played important roles in the etiology of RA in the largest Asian population, the Chinese population.
类风湿性关节炎（RA）是一种具有复杂遗传因素的慢性炎症性疾病。先前有报道称，SLC22A4基因中的单核苷酸多态性（SNP）在日本人群中与类风湿性关节炎相关，但在欧洲人群中并非如此。本研究进一步调查了SLC22A4基因多态性，特别是slc2F1/slc2F2，在亚洲最大人群——中国人群中与类风湿性关节炎的关联。对总共160名人类受试者（95名类风湿性关节炎患者和65名健康对照）进行了slc2F1-G/A和slc2F2-C/T多态性基因分型。结果表明，两组之间这两种多态性的基因型分布存在显著差异。此外，slc2F1 A等位基因和slc2F2 T等位基因的存在分别使抗环瓜氨酸肽（CCP）阳性的风险增加1.93倍和2.14倍。总体而言，本研究提供了证据表明，SLC22A4基因多态性在亚洲最大人群——中国人群的类风湿性关节炎病因中起重要作用。
