Tavakolpour Soheil
Iran University of Medical Sciences, Tehran, Iran; Neuroscience Research center, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
Mult Scler Relat Disord. 2016 Jul;8:66-73. doi: 10.1016/j.msard.2016.05.001. Epub 2016 May 2.
Multiple sclerosis (MS) is considered as the most common chronic inflammatory neurologic disorder diagnosed in young adults. Both environmental and genetic factors may influence risk of MS development. Interleukin 7 receptor (IL7R) is one of the most studied gene polymorphism on MS that may play a possible role in MS development. The most studied polymorphism of IL7R gene is "rs6897932" polymorphism on IL7Rα gene (IL7RA).
PubMed, Scopus, and Google scholar databases were searched for all of related studies on the association of IL7RA polymorphism with single nucleotide polymorphism (SNP) ID of "rs6897932" and the risk of MS through August 07, 2015. After exclusion of irrelevant articles, 11 eligible studies were selected, which were analyzed to determine an association between the MS and IL7R T244I polymorphism (rs6897932). For identification of this association, odds ratios (ORs) and 95% confidence interval (95% CI) were calculated. Four models of allelic (T vs. C), co-dominant genotype (TT vs. CC), dominant (TT+CT vs. CC), and recessive genotypes (TT vs. CT+CC) were considered to check the possible role of rs6897932 polymorphism in MS. A sensitivity analysis was conducted to find the reliability of this study. Furthermore, funnel plots were used to evaluate publication bias.
A total of 11 case-control studies were identified through this meta-analysis, which containing 6752 cases and 7349 controls. In overall, the frequency of the C allele was found to be higher in patients with MS compared to healthy controls (75.66% vs. 72.19%). T allele was significantly associated with the decreased risk of MS in a random effect model (T vs. C: OR=0.84, 95% CI=0.77-0.92, P-value <0.001). In the co-dominant, dominant, and recessive genotypes models, a significant association between the IL7R T244I polymorphism and MS risk was demonstrated (TT vs. CC: OR=0.70, 95% CI=0.61-0.80, P-value <0.001; TT+CT vs. CC: OR=0.82, 95% CI=0.73-0.92, P-value <0.001; TT vs. CT+CC: OR=0.76, 95% CI=0.66-0.87, P-value <0.001). Sensitivity analysis revealed that this study is reliable. There was no evidence of publication bias.
It was demonstrated that the IL7R T244I polymorphism was associated with susceptibility to MS. However, more well-designed studies with large sample size are needed to validate this association between this single nucleotide polymorphism and MS.
多发性硬化症（MS）被认为是在年轻人中诊断出的最常见的慢性炎症性神经系统疾病。环境和遗传因素都可能影响MS发病的风险。白细胞介素7受体（IL7R）是MS研究最多的基因多态性之一，可能在MS发病中发挥作用。IL7R基因研究最多的多态性是IL7Rα基因（IL7RA）上的“rs6897932”多态性。
检索了PubMed、Scopus和谷歌学术数据库，查找截至2015年8月7日所有关于IL7RA多态性与单核苷酸多态性（SNP）ID“rs6897932”及MS风险关联的相关研究。排除无关文章后，选择了11项符合条件的研究，对其进行分析以确定MS与IL7R T244I多态性（rs6897932）之间的关联。为确定这种关联，计算了比值比（OR）和95%置信区间（95%CI）。考虑了等位基因（T对C）、共显性基因型（TT对CC）、显性（TT + CT对CC）和隐性基因型（TT对CT + CC）四种模型，以检验rs6897932多态性在MS中的可能作用。进行了敏感性分析以确定本研究的可靠性。此外，使用漏斗图评估发表偏倚。
通过这项荟萃分析共确定了11项病例对照研究，其中包含6752例病例和7349例对照。总体而言，发现MS患者中C等位基因的频率高于健康对照（75.66%对72.19%）。在随机效应模型中，T等位基因与MS风险降低显著相关（T对C：OR = 0.84，95%CI = 0.77 - 0.92，P值<0.001）。在共显性、显性和隐性基因型模型中，均显示IL7R T244I多态性与MS风险之间存在显著关联（TT对CC：OR = 0.70，95%CI = 0.61 - 0.80，P值<0.001；TT + CT对CC：OR = 0.82，95%CI = 0.73 - 0.92，P值<0.001；TT对CT + CC：OR = 0.76，95%CI = 0.66 - 0.87，P值<0.001）。敏感性分析表明本研究可靠。没有发表偏倚的证据。
已证明IL7R T244I多态性与MS易感性相关。然而，需要更多设计良好、样本量大的研究来验证这种单核苷酸多态性与MS之间的这种关联。
