Amorim Márcia R, Lima Marcelo A C, Castilla Eduardo E, Orioli Iêda M
Estudo Colaborativo Latino Americano de Malformações Congênitas: ECLAMC at Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Am J Med Genet A. 2007 Aug 1;143A(15):1726-32. doi: 10.1002/ajmg.a.31812.
There are several studies that have found a positive association between neural tube defects (NTDs) and the common mutation 677C > T of 5,10-methylenetetrahydrofolate reductase (MTHFR), and others that have not found such an association. We updated the meta-analyses of the published data about NTDs and MTHFR 677C > T variant from January 1994 to October 2005 identifying 170 potentially relevant studies. After applying pertinent exclusion criteria, 37 different populations from 32 studies were included in the meta-analysis, with a total of 3,530 cases and 6,296 controls. Further we stratified the data according to geographical region and ethnicity, and produced two separated meta-analyses for non-Latin European and Latin European descent populations. The general (odds ratio 1.41; 95% confidence interval 1.24-1.59), and the non-Latin European meta-analyses (1.62; 1.38-1.90) indicate an association of TT genotype and NTDs; no association was demonstrated for Latin European populations (1.16; 0.95-1.43). The examination of non-Latin European studies revealed that the association of TT genotype with NTD has only been proven for Irish populations, both by case-control studies, and by family-based tests, such as the allele transmission disequilibrium test (TDT).
有多项研究发现神经管缺陷（NTDs）与5,10-亚甲基四氢叶酸还原酶（MTHFR）常见的677C>T突变之间存在正相关，而其他一些研究则未发现这种关联。我们更新了1994年1月至2005年10月期间关于NTDs和MTHFR 677C>T变异的已发表数据的荟萃分析，共识别出170项潜在相关研究。在应用相关排除标准后，荟萃分析纳入了来自32项研究的37个不同人群，共有3530例病例和6296例对照。此外，我们根据地理区域和种族对数据进行分层，并对非拉丁裔欧洲人和拉丁裔欧洲人后裔人群分别进行了两次荟萃分析。总体（比值比1.41；95%置信区间1.24 - 1.59）以及非拉丁裔欧洲人的荟萃分析（1.62；1.38 - 1.90）表明TT基因型与NTDs存在关联；拉丁裔欧洲人群未显示出关联（1.16；0.95 - 1.43）。对非拉丁裔欧洲研究的审查发现，只有爱尔兰人群通过病例对照研究以及基于家系的检验，如等位基因传递不平衡检验（TDT），证实了TT基因型与NTD的关联。
