Key Laboratory of Environment Medicine and Engineering of Ministry of Education, Department of Epidemiology and Health Statistics, School of Public Health, Southeast University, Nanjing, Jiangsu Province, PR China.
Key Laboratory of Environment Medicine and Engineering of Ministry of Education, Department of Epidemiology and Health Statistics, School of Public Health, Southeast University, Nanjing, Jiangsu Province, PR China.
Gene. 2019 Nov 30;719:144079. doi: 10.1016/j.gene.2019.144079. Epub 2019 Aug 24.
Polycystic ovary syndrome (PCOS) is considered as a complex disorder. The etiology of PCOS is multifactorial with a clear genetic component. Several human studies have been conducted to explore the association between MTHFR polymorphisms and PCOS susceptibility, but these provide inconsistent results and the combined result of A1298C remains vacant. Our aim is to examine whether MTHFR C677T or A1298C are related to PCOS.
We conducted a meta-analysis to investigate the association between MTHFR C677T or A1298C polymorphisms and PCOS. Electronic database was searched, including PubMed, Embase, CNKI, Web of science and the reference lists of relevant articles for studies published from the inception to June 17, 2019. The included studies were assessed in the following genetic model: dominant model, recessive model, allelic model, homozygote model, Heterozygote model.
19 articles (21 studies) with 2383 patients of PCOS and 2492 controls were considered for MTHFR C677T, and 7 articles (8 studies) were employed for MTHFT A1298C in this meta-analysis. For MTHFR C677T and A1298C, significant association with PCOS was observed in the combined population and Asian population. None of the contrasts of genetic model yielded a significant finding in the Caucasian population.
Our result based on previously published studies demonstrated that T allele in MTHFR C677T polymorphism might be a genetic risk factor for PCOS, especially in the Asian population. MTHFR A1298C might be contribute to PCOS susceptibility. More efforts and further studies with larger sample size will be required to validate the risk of PCOS.
多囊卵巢综合征（PCOS）被认为是一种复杂的疾病。PCOS 的病因是多因素的，有明显的遗传成分。已经进行了几项人类研究来探讨 MTHFR 多态性与 PCOS 易感性之间的关系，但这些研究提供的结果并不一致，A1298C 的综合结果仍然空缺。我们的目的是研究 MTHFR C677T 或 A1298C 是否与 PCOS 有关。
我们进行了一项荟萃分析，以调查 MTHFR C677T 或 A1298C 多态性与 PCOS 之间的关系。电子数据库进行了搜索，包括 PubMed、Embase、CNKI、Web of Science 和相关文章的参考文献，研究从成立到 2019 年 6 月 17 日发表。所纳入的研究采用以下遗传模型进行评估：显性模型、隐性模型、等位基因模型、纯合子模型、杂合子模型。
在这项荟萃分析中，考虑了 19 篇文章（21 项研究）的 2383 例 PCOS 患者和 2492 例对照，用于 MTHFR C677T，7 篇文章（8 项研究）用于 MTHFT A1298C。对于 MTHFR C677T 和 A1298C，在合并人群和亚洲人群中观察到与 PCOS 显著相关。在高加索人群中，没有一项遗传模型的对比有显著发现。
基于以前发表的研究结果表明，MTHFR C677T 多态性中的 T 等位基因可能是 PCOS 的遗传危险因素，尤其是在亚洲人群中。MTHFR A1298C 可能有助于 PCOS 的易感性。需要进一步的研究和更大的样本量来验证 PCOS 的风险。
