Laboratory of General Biology and Genetics, Medical School, Aristotle University of Thessaloniki, Greece.
Semin Arthritis Rheum. 2013 Aug;43(1):29-38. doi: 10.1016/j.semarthrit.2012.12.003. Epub 2013 Jun 13.
Rheumatoid arthritis (RA) is a complex disorder with many genetic and environmental factors to account for disease susceptibility. Individual genetic association studies usually suffer from small sample size leading to biased results of polymorphisms association with RA liability. Therefore, meta-analyses seem to resolve this limitation, up to a point, increasing the power of statistical analyses. In this review, we summarize the current knowledge of non-HLA genetic factors contributing to RA predisposition based on meta-analyses.
Using the key words: rheumatoid arthritis, meta-analysis, and polymorphism, we searched the PubMed database for the associated articles. Up to the middle of November 2012, seventy-nine articles fulfilled the criteria and highlighted the current findings on the genetic factors contributing to RA susceptibility.
The association with RA was confirmed for 32 gene polymorphisms, being population specific in some cases. However, meta-analyses did not confirm an association in case of 16 gene variants, previously studied in individual studies for their association with RA.
The use of bioinformatics tools and functional studies of the summarized implicated genes in RA pathogenesis could shed light on the molecular pathways related to the disorder, helping to the development of new drug targets for a better treatment of RA.
类风湿关节炎（RA）是一种复杂的疾病，有许多遗传和环境因素可以解释其易感性。个体遗传关联研究通常受到样本量小的限制，导致与 RA 易感性相关的多态性关联结果存在偏差。因此，荟萃分析似乎在一定程度上解决了这一限制，提高了统计分析的效力。在这篇综述中，我们根据荟萃分析总结了目前已知的非 HLA 遗传因素对 RA 易感性的影响。
使用关键词“类风湿关节炎、荟萃分析和多态性”，我们在 PubMed 数据库中搜索相关文章。截至 2012 年 11 月中旬，共有 79 篇文章符合标准，并强调了目前关于遗传因素与 RA 易感性相关的研究结果。
有 32 个基因多态性与 RA 相关，在某些情况下具有人群特异性。然而，荟萃分析未能证实先前在个体研究中与 RA 相关的 16 个基因变异与 RA 相关。
使用生物信息学工具和 RA 发病机制中总结的相关基因的功能研究，可以揭示与该疾病相关的分子途径，有助于开发新的药物靶点，以更好地治疗 RA。
