亚甲基四氢叶酸还原酶（MTHFR）A1298C多态性（而非MTHFR C677T多态性）与同型半胱氨酸水平升高及胎盘血管病变的关联。
Association of MTHFR A1298C polymorphism (but not of MTHFR C677T) with elevated homocysteine levels and placental vasculopathies.
作者信息
Klai Sarra, Fekih-Mrissa Najiba, El Housaini Sonia, Kaabechi Naziha, Nsiri Brahim, Rachdi Radhouen, Gritli Nasredine
机构信息
Laboratory of Molecular Biology, Department of Hematology, Rabta University Hospital, Tunis, Tunisia.
出版信息
Blood Coagul Fibrinolysis. 2011 Jul;22(5):374-8. doi: 10.1097/MBC.0b013e328344f80f.
Our aim in this study was to investigate the association between elevated homocysteine levels and the two MTHFR polymorphisms, C677T and A1298C, with several pregnancy complications such as recurrent pregnancy loss, preeclampsia, placental abruption and intrauterine growth retardation. In 203 women with different placental vasculopathies, we determined the MTHFR C677T and the A1298C prevalence and their relative association to elevated homocysteine levels. The mean plasma homocysteine level was significantly higher in the pathologic groups when compared with the control group. We identified the carriage of the MTHFR A1298C polymorphism as a significant risk factor for vascular-related pregnancy complications. Women with MTHFR A1298C polymorphism or elevated homocysteine levels have an increased risk of placental vasculopathies. The MTHFR A1298C mutation also had a positive impact on elevated homocysteine levels. The lack of association between the MTHFR C677T polymorphism and pregnancy morbidities needs further studies.
我们这项研究的目的是调查高同型半胱氨酸水平与两种亚甲基四氢叶酸还原酶（MTHFR）基因多态性（C677T和A1298C）之间的关联，以及它们与几种妊娠并发症的关系，如复发性流产、先兆子痫、胎盘早剥和胎儿生长受限。在203名患有不同胎盘血管病变的女性中，我们测定了MTHFR C677T和A1298C的患病率及其与高同型半胱氨酸水平的相对关联。与对照组相比，病理组的平均血浆同型半胱氨酸水平显著更高。我们确定MTHFR A1298C基因多态性的携带是血管相关妊娠并发症的一个显著危险因素。具有MTHFR A1298C基因多态性或高同型半胱氨酸水平的女性发生胎盘血管病变的风险增加。MTHFR A1298C突变对高同型半胱氨酸水平也有正向影响。MTHFR C677T基因多态性与妊娠疾病之间缺乏关联需要进一步研究。
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