Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Department of Obstetrics and Gynecology, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Clin Chim Acta. 2015 Feb 2;440:104-7. doi: 10.1016/j.cca.2014.11.018. Epub 2014 Nov 22.
Up to 20% of pregnancies end in the first trimester by spontaneous abortion but the cause of a large proportion remains unexplained. The aim of this study was to investigate the role of two common variants (rs1801133, C677T and rs1801131, A1298C) within the MTHFR gene in the genetic determination of spontaneous abortions.
DNA from 464 tissue samples of spontaneous abortions and population sample of adults (N=2,486) were genotyped for both MTHFR polymorphisms of interest.
The frequencies of the MTHFR polymorphisms in tissues from spontaneous abortions did not differ from the population cohort. However, when combined, carriers of at least three rs1801133 and/or rs1801131 alleles were more common in the spontaneous abortions (61.4%) than in controls (55.4%) and this combination was associated with higher risk of abortion (OR 1.28; 95% CI 1.05-1.57; P=0.017). In contrast, carriers of at least three minor alleles (T677 and C1298) of these polymorphisms were very rare in both groups (0.8% and 0.9% respectively).
Our study suggests that distinct combinations of the MTHFR polymorphisms could be associated with higher risk of spontaneous abortions in Caucasians.
多达 20%的妊娠会在妊娠早期因自然流产而终止，但很大一部分流产的原因仍未得到解释。本研究旨在探讨 MTHFR 基因中两个常见变异（rs1801133，C677T 和 rs1801131，A1298C）在自然流产遗传决定中的作用。
对 464 个自然流产组织样本和成人（N=2486）的人群样本中的两个 MTHFR 基因感兴趣的多态性进行基因分型。
流产组织中的 MTHFR 多态性频率与人群队列无差异。然而，当组合时，至少携带三个 rs1801133 和/或 rs1801131 等位基因的携带者在自然流产（61.4%）中比对照组（55.4%）更为常见，并且这种组合与流产风险增加相关（OR 1.28；95%CI 1.05-1.57；P=0.017）。相比之下，在两组中，这些多态性的至少三个次要等位基因（T677 和 C1298）的携带者非常罕见（分别为 0.8%和 0.9%）。
我们的研究表明，MTHFR 多态性的不同组合可能与白人自然流产的风险增加相关。
