Shahrokhi Seyedeh Z, Kazerouni Faranak, Ghaffari Firouzeh, Rahimipour Ali, Omrani Mir D, Arabipoor Arezoo, Lak Ramin, Ghane Elaheh T
Clin Lab. 2017 May 1;63(5):927-934. doi: 10.7754/Clin.Lab.2016.161104.
The expression of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in human oocytes and preimplantation embryos suggests that the MTHFR gene is involved in folliculogenesis and female reproduction. Considering the importance of the MTHFR gene on female reproduction, the aim of this study was to evalu- ate the influence of MTHFR C677T polymorphism on ovarian marker reserve, particularly serum anti-Müllerian hormone (AMH) levels, and ovarian response as well as clinical pregnancy rates after in vitro fertilization (IVF)/ intracytoplasmic sperm injection (ICSI).
A total of 137 women who underwent ART treatment due to male factor infertility enrolled in this study. Genotyping of MTHFR C677T polymorphism and serum AMH concentrations were performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique and an ultrasensitive enzymelinked immunosorbent assay (ELISA).
Women with the TT genotype showed significantly higher AMH levels (4.5 ± 3.2 ng/mL) compared to carriers of other genotypes after ovarian stimulation. We observed a nonsignificant trend towards lower clinical pregnancy rates in patients with the TT (23.1%) versus CT (48.4%) genotypes (p = 0.2). No significant differences existed in terms of miscarriage and live birth rates among the groups. Multivariable logistic regression revealed that the duration of infertility and AFC were important predictive variables for the live birth rate.
Our results confirmed that the presence of the T mutant allele of the 677 polymorphism in the MTHFR gene led to an increased trend in AMH levels. Interestingly, we observed that the numbers of oocytes retrieved decreased in the mutated genotypes. We have not observed this trend in relation to oocyte maturity. The influence of the MTHFR C677T polymorphism on embryo quality and pregnancy rate after ART cycles remains unclear.
5,10-亚甲基四氢叶酸还原酶（MTHFR）基因在人类卵母细胞和植入前胚胎中的表达表明，MTHFR基因参与卵泡发生和女性生殖。鉴于MTHFR基因对女性生殖的重要性，本研究旨在评估MTHFR C677T多态性对卵巢储备标志物，特别是血清抗苗勒管激素（AMH）水平、卵巢反应以及体外受精（IVF）/卵胞浆内单精子注射（ICSI）后的临床妊娠率的影响。
本研究共纳入137例因男性因素不孕而接受辅助生殖技术（ART）治疗的女性。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术和超敏酶联免疫吸附测定（ELISA）对MTHFR C677T多态性进行基因分型并检测血清AMH浓度。
卵巢刺激后，TT基因型女性的AMH水平（4.5±3.2 ng/mL）显著高于其他基因型携带者。我们观察到，TT基因型（23.1%）患者的临床妊娠率有低于CT基因型（48.4%）患者的非显著趋势（p = 0.2）。各组之间的流产率和活产率无显著差异。多变量逻辑回归显示，不孕持续时间和窦卵泡数是活产率的重要预测变量。
我们的结果证实，MTHFR基因677多态性的T突变等位基因的存在导致AMH水平呈上升趋势。有趣的是，我们观察到突变基因型中回收的卵母细胞数量减少。我们未观察到这种与卵母细胞成熟度相关的趋势。MTHFR C677T多态性对ART周期后胚胎质量和妊娠率的影响仍不清楚。
