Ahmed Shoaib, Hussain Shabbir, Ammar Ali, Jahan Shah, Khaliq Shagufta, Kaul Haiba
Clin Lab. 2017 Sep 1;63(9):1365-1369. doi: 10.7754/Clin.Lab.2017.170216.
Increased production of interleukin 6 (IL-6) is associated with rheumatoid arthritis that acts through its receptor, IL-6R (interleukin 6 receptor). Various single nucleotide polymorphisms in the IL6R gene conferring susceptibility to rheumatoid arthritis have been identified in various populations yet these associations have not been fully established. The present study was pursued with the aim to evaluate a possible association between three single nucleotide polymorphisms (rs2228145, rs4537545, rs4845617) of the IL6R gene and rheumatoid arthritis in Pakistani patients.
For this purpose, we recruited 60 patients diagnosed with rheumatoid arthritis and 60 healthy age and gender matched controls. Blood samples were collected and DNA was extracted. Sanger DNA sequencing was performed to evaluate the SNPs in IL6R and the data were statistically evaluated using chi-square test.
Results of our study indicated that rs2228145 and rs4845617 were significantly associated with rheumatoid arthritis in Pakistani population. However, no association could be established between IL6R (rs4537545) and rheumatoid arthritis in Pakistani population.
This study reports a possible genetic association of IL6R (rs2228145 and rs4845617) to the genetic susceptibility of rheumatoid arthritis.
白细胞介素6（IL-6）产量增加与类风湿性关节炎相关，其通过白细胞介素6受体（IL-6R）发挥作用。在不同人群中已鉴定出多种白细胞介素6受体（IL6R）基因单核苷酸多态性与类风湿性关节炎易感性相关，但这些关联尚未完全确立。本研究旨在评估巴基斯坦患者白细胞介素6受体（IL6R）基因的三个单核苷酸多态性（rs2228145、rs4537545、rs4845617）与类风湿性关节炎之间的可能关联。
为此，我们招募了60例诊断为类风湿性关节炎的患者以及60例年龄和性别匹配的健康对照。采集血样并提取DNA。采用桑格DNA测序法评估白细胞介素6受体（IL6R）中的单核苷酸多态性（SNPs），并使用卡方检验对数据进行统计学评估。
我们的研究结果表明，rs2228145和rs4845617与巴基斯坦人群的类风湿性关节炎显著相关。然而，在巴基斯坦人群中，白细胞介素6受体（IL6R，rs4537545）与类风湿性关节炎之间未发现关联。
本研究报告了白细胞介素6受体（IL6R，rs2228145和rs4845617）与类风湿性关节炎遗传易感性之间可能存在的遗传关联。
