Kaiser T, Brennecke S P, Moses E K
Department of Perinatal Medicine and University of Melbourne, The Royal Women's Hospital, Carlton, Australia.
Hum Hered. 2001;51(1-2):20-2. doi: 10.1159/000022954.
The C677T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism results in reduced MTHFR enzymatic activity. This in turn results in increased levels of homocysteine. It has been suggested that increased levels of homocysteine cause vascular disease, which is known to increase the risk of developing pre-eclampsia (PE) during pregnancy. However, recent studies on Japanese, Italian and American populations have failed to reach agreement on an association between the C677T polymorphism and PE. In this study, 156 cases of eclampsia (E)/PE and 79 normal pregnant control cases from an Australian population were genotyped for this mutation. No significant difference could be found in the incidence of the homozygote mutation or in the allele frequency. We conclude from this study that the C677T mutation in our population is not associated with the development of PE/E.
C677T亚甲基四氢叶酸还原酶(MTHFR)基因多态性导致MTHFR酶活性降低。这进而导致同型半胱氨酸水平升高。有人提出,同型半胱氨酸水平升高会引发血管疾病,而血管疾病已知会增加孕期发生先兆子痫(PE)的风险。然而,最近针对日本、意大利和美国人群的研究未能就C677T多态性与PE之间的关联达成一致。在本研究中,对来自澳大利亚人群的156例子痫(E)/PE患者和79例正常妊娠对照病例进行了该突变的基因分型。在纯合子突变的发生率或等位基因频率方面未发现显著差异。我们从本研究得出结论,我们人群中的C677T突变与PE/E的发生无关。