Soligo Adriana de Góes, Barini Ricardo, Annichino-Bizzacchi Joyce Maria
Department of Tocogynecology, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.
Department of Hematology, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.
Rev Bras Ginecol Obstet. 2017 Dec;39(12):659-662. doi: 10.1055/s-0037-1606289. Epub 2017 Aug 28.
The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. This case-control study included 130 infertile women consulting at a private clinic between March 2003 and March 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013. The Chi-squared and Fisher Exact tests were used to evaluate the association between the presence of the MTHFR C677T mutation and a history of infertility. The frequency of the mutation was of 58.5% for the case group ( = 76) and of 49.2% for the fertile controls ( = 128). The mutation was homozygous in 13 women in the case group (10%) and in 23 of the fertile women in the control group (8.8%). These differences were not statistically significant. These results suggest that the presence of the MTHFR C677T mutation does not constitute a risk factor for infertility, even when the mutation is homozygous. Further studies are needed to confirm whether research on this mutation should be considered unnecessary in women with infertility.
亚甲基四氢叶酸还原酶（MTHFR）基因C677T突变在不孕女性中的重要性仍存在争议。为了评估MTHFR C677T突变在不孕女性中是否更常见，以及它们是否与巴西人群中不孕的发生有关。这项病例对照研究纳入了2003年3月至2005年3月期间在一家私人诊所咨询的130名不孕女性（数据此前已发表），以及2012年4月至2013年3月期间在我们机构计划生育门诊就诊的260名有生育能力的女性。采用卡方检验和Fisher精确检验来评估MTHFR C677T突变的存在与不孕病史之间的关联。病例组突变频率为58.5%（n = 76），有生育能力的对照组为49.2%（n = 128）。病例组中有13名女性（10%）突变是纯合子，对照组中有生育能力的女性中有23名（8.8%）是纯合子。这些差异无统计学意义。这些结果表明，即使MTHFR C677T突变是纯合子，其存在也不构成不孕的危险因素。需要进一步研究来证实对于不孕女性，对该突变的研究是否应被认为是不必要的。
