Department of Clinical Biochemistry, Faculty of Medicine, Rafsanjan University of Medical Sciences, Rafsanjan, Iran.
Department of Immunology, School of Public Health, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
Clin Rheumatol. 2020 Aug;39(8):2267-2279. doi: 10.1007/s10067-020-05031-5. Epub 2020 Mar 14.
Rheumatoid arthritis (RA) is the most common autoimmune rheumatic disease, in which an epigenetic implication in the disease etiopathogenesis has been noted. Here in this meta-analysis, we attempted to investigate the pooled association of methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C polymorphisms and susceptibility to RA risk. A systematic search was performed in the main databases, including MEDLINE and Scopus to search for studies assessing the association between MTHFR gene C677T and A1298C polymorphisms and the risk of RA prior to December 2019. In this meta-analysis, 15 studies with 2165 patients and 1751 healthy controls for C677T SNP and 14 studies containing 2021 patients and 1760 healthy controls for A1298C SNP were included. A significant positive association between C677T SNP and RA risk was recognized in the dominant, recessive, and allelic model, but not TT and CT genotypes. The results indicated that the risk of RA in African population was increased under all genotype models while these results were repeated in Asian population just for recessive model, allelic model, and TT genotype. Moreover, the analysis of A1298C SNP demonstrated a significant association in overall population according to only the recessive model and CC genotype. Subgroup analysis according to the genotyping method indicated that RFLP-PCR method could impress the results of association between MTHFR gene A1298C and C677T SNPs and RA risk. The outcome of this meta-analysis indicated that MTHFR gene C677T SNP was much possibly be associated with RA risk.
类风湿关节炎（RA）是最常见的自身免疫性风湿病，其发病机制中存在表观遗传的影响。在这项荟萃分析中，我们试图研究亚甲基四氢叶酸还原酶（MTHFR）基因 C677T 和 A1298C 多态性与 RA 易感性的相关性。在主要数据库中进行了系统搜索，包括 MEDLINE 和 Scopus，以搜索评估 MTHFR 基因 C677T 和 A1298C 多态性与 RA 风险之间关联的研究，截至 2019 年 12 月。在这项荟萃分析中，纳入了 15 项研究，共 2165 例患者和 1751 例健康对照者用于 C677T SNP，纳入了 14 项研究，共 2021 例患者和 1760 例健康对照者用于 A1298C SNP。显性、隐性和等位基因模型均显示 C677T SNP 与 RA 风险呈显著正相关，但 TT 和 CT 基因型无显著相关性。结果表明，非洲人群中所有基因型模型下 RA 的发病风险均增加，而亚洲人群中仅在隐性模型、等位基因模型和 TT 基因型下出现这些结果。此外，A1298C SNP 的分析显示，仅在隐性模型和 CC 基因型下，总体人群中存在显著相关性。根据基因分型方法的亚组分析表明，RFLP-PCR 方法可能会影响 MTHFR 基因 A1298C 和 C677T 多态性与 RA 风险之间的关联结果。这项荟萃分析的结果表明，MTHFR 基因 C677T SNP 与 RA 风险之间很可能存在相关性。
