Yang Zhicheng, Liu Shuaikun, Zhou Li, Zhang Hui, Xu Nanwei
Department of Orthopedics, The Affiliated Changzhou No. 2 People's Hospital of Nanjing Medical University, Changzhou, People's Republic of China.
Graduate School, Dalian Medical University, Dalian, People's Republic of China.
Pharmgenomics Pers Med. 2021 Feb 9;14:221-228. doi: 10.2147/PGPM.S287688. eCollection 2021.
T-cell immunoglobulin and mucin domain-4 (TIMD-4) are likely to impact autoimmune diseases (e.g., rheumatoid arthritis (RA)). It is hypothesized here that gene polymorphism is likely to display a correlation with the RA risk.
For examining the effect exerted by genetic variant in the RA risk, a case-control study containing 379 RA cases and 432 healthy control groups in Chinese population was performed. This study conducted genotyping with the use of a custom-by-design 48-Plex single nucleotide polymorphism (SNP) Scan™ Kit. Blood serum conditions of TIMD-4 in RA cases and matched control groups were measured by enzyme-connected immunosorbent assay (ELISA).
Our results demonstrated that the rs7700944 polymorphism could increase the RA risk in Chinese population. According to stratification analyzing processes, the rs7700944 polymorphism displayed the correlation to the elevated RA risk in the females, smokers and cases aged ≥55 years. Cross-over analyses also indicated that the combined effect of smoking or drinking and GA genotype of rs7700944 locus contributed to an elevated risk of RA. In addition, the rs7700944 polymorphism was also related to RA cases with DAS ≥ 3.20, ESR ≥25.00 mm/h and positive anti-ccp. Moreover, compared with the control groups, the average expression level of TIMD-4 in the serum of RA cases was apparently increased.
In conclusion, the rs7700944 polymorphism may increase the sensitivity to RA in Chinese population.
T细胞免疫球蛋白和粘蛋白结构域4（TIMD-4）可能会影响自身免疫性疾病（如类风湿性关节炎（RA））。本文假设基因多态性可能与RA风险存在相关性。
为了研究基因变异对RA风险的影响，在中国人群中开展了一项病例对照研究，包含379例RA患者和432例健康对照组。本研究使用定制的48重单核苷酸多态性（SNP）扫描试剂盒进行基因分型。通过酶联免疫吸附测定（ELISA）检测RA患者及匹配对照组血清中TIMD-4的情况。
我们的结果表明，rs7700944多态性可能会增加中国人群患RA的风险。根据分层分析过程，rs7700944多态性与女性、吸烟者及年龄≥55岁患者患RA风险升高相关。交叉分析还表明，吸烟或饮酒与rs7700944位点的GA基因型共同作用会增加患RA的风险。此外，rs7700944多态性还与疾病活动度评分（DAS）≥3.20、红细胞沉降率（ESR）≥25.00 mm/h及抗环瓜氨酸肽抗体（anti-ccp）阳性的RA患者有关。而且，与对照组相比，RA患者血清中TIMD-4的平均表达水平明显升高。
总之，rs7700944多态性可能会增加中国人群对RA的易感性。
