Department of Epidemiology, School of Public Health, China Medical University, Shenyang, Liaoning Province, China; Key Laboratory of Cancer Etiology and Intervention, University of Liaoning Province, Shenyang, China.
PLoS One. 2014 Mar 21;9(3):e88242. doi: 10.1371/journal.pone.0088242. eCollection 2014.
Several studies have reported the association between methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and nonsyndromic cleft lip with or without palate (NSCL/P) in Asian populations. However, findings have been conflicting. In order to investigate the association, a meta-analysis was performed.
We searched Pubmed, MedLine and EmBase database to selected eligible studies. The pooled odds ratios (ORs) with 95% confidence intervals (95%CIs) were calculated using fixed effects model or random effects model to assess the association between MTHFR polymorphisms and NSCL/P in both Asian children and mothers.
Finally, nine case-control studies were included. Overall, the MTHFR C677T polymorphism and NSCL/P showed pooled ORs (95%CI) of 1.41(1.23-1.61) in Asian children, and 1.70(1.19-2.42) in Asian mothers. Subgroup analyses by geographical locations further identified the association in Eastern Asian children, Western/Central Asian children and mothers, but not in Eastern Asian mothers. However, no significant relationship between MTHFR A1298C polymorphism and NSCL/P was found in this meta-analysis.
The MTHFR 677T allele was associated with an increased risk of NSCL/P in Asian populations.
多项研究报道了亚人群中，亚甲基四氢叶酸还原酶（MTHFR）C677T 和 A1298C 多态性与非综合征性唇腭裂（NSCL/P）之间存在关联。然而，研究结果存在争议。为了进行调查，我们进行了一项荟萃分析。
我们检索了 Pubmed、MedLine 和 EmBase 数据库，以选择合格的研究。使用固定效应模型或随机效应模型计算合并的比值比（OR）及其 95%置信区间（95%CI），以评估 MTHFR 多态性与亚洲儿童和母亲中非综合征性唇腭裂之间的关系。
最终，有 9 项病例对照研究被纳入。总体而言，MTHFR C677T 多态性与 NSCL/P 在亚洲儿童中的合并 OR（95%CI）为 1.41（1.23-1.61），在亚洲母亲中为 1.70（1.19-2.42）。按地理位置进行的亚组分析进一步确定了东亚儿童、西亚/中亚儿童和母亲存在关联，但东亚母亲不存在关联。然而，本荟萃分析未发现 MTHFR A1298C 多态性与 NSCL/P 之间存在显著关系。
MTHFR 677T 等位基因与亚洲人群中非综合征性唇腭裂的风险增加相关。
