Makino Aiko, Nakanishi Tamao, Sugiura-Ogasawara Mayumi, Ozaki Yasuhiko, Suzumori Nobuhiro, Suzumori Kaoru
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya, Japan.
Am J Reprod Immunol. 2004 Jul;52(1):60-6. doi: 10.1111/j.1600-0897.2004.00187.x.
It is controversial whether polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and the endothelial nitric oxide synthase (eNOS) are associated with recurrent pregnancy loss.
We studied the frequency of the C677T polymorphism of MTHFR and a eNOS gene polymorphism, as well as the plasma levels of homocysteine and NO, in 85 cases with a history of two or more unexplained embryonal losses, 40 patients suffering fetal loss and 76 controls.
The frequency of the MTHFR gene T allele, which has been reported to be associated with miscarriages, in patients suffering fetal loss was rather significantly lower than in controls whereas there was no difference in the frequency of the eNOS gene A allele. There were no differences in the plasma homocysteine levels among the three groups. However, the NO concentrations in the embryonal loss and fetal loss groups were significantly higher than that in controls.
We conclude that the NO concentration but not the polymorphism of MTHFR and eNOS gene and hyperhomocysteinemia are associated with recurrent pregnancy loss in Japanese.
亚甲基四氢叶酸还原酶（MTHFR）和内皮型一氧化氮合酶（eNOS）的多态性是否与复发性流产相关，这一点存在争议。
我们研究了85例有两次或更多次不明原因胚胎丢失病史的患者、40例有胎儿丢失的患者以及76例对照者中MTHFR的C677T多态性和eNOS基因多态性的频率，以及血浆同型半胱氨酸和一氧化氮水平。
据报道与流产相关的MTHFR基因T等位基因在有胎儿丢失的患者中的频率显著低于对照组，而eNOS基因A等位基因的频率没有差异。三组之间血浆同型半胱氨酸水平没有差异。然而，胚胎丢失组和胎儿丢失组中的一氧化氮浓度显著高于对照组。
我们得出结论，在日本人中，与复发性流产相关的是一氧化氮浓度，而非MTHFR和eNOS基因的多态性以及高同型半胱氨酸血症。
