Zetterberg Henrik, Zafiropoulos Alexis, Spandidos Demetrios A, Rymo Lars, Blennow Kaj
Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, Göteborg University, S-413 45 Göteborg, Sweden.
Hum Reprod. 2003 Sep;18(9):1948-50. doi: 10.1093/humrep/deg375.
Genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) and transcobalamin (TC) genes influence homocysteine metabolism which in turn may influence the risk of spontaneous abortion. It was hypothesized that there may be a significant interaction between MTHFR and TC genotypes which affects the pathogenesis of spontaneous abortion.
A total of 76 fetal tissue samples from spontaneous abortions between weeks 6 and 20 of pregnancy, and 114 control samples from healthy blood donors were genotyped for the MTHFR 677C>T and 776C>G polymorphisms. Subjects with combined MTHFR 677TT/TC 776GG and combined MTHFR 677TT/TC 776CG genotypes gave an odds ratio for spontaneous abortion of 3.8 (95% confidence interval 1.4-9.9, P = 0.005).
Embryos that have combined MTHFR 677TT and TC 776CG or 776GG genotypes; genotypes that individually are associated with impaired homocysteine metabolism in adults, are at increased risk for spontaneous abortion compared with embryos that have only one of these genotypes.
亚甲基四氢叶酸还原酶（MTHFR）和转钴胺素（TC）基因的遗传多态性会影响同型半胱氨酸代谢，进而可能影响自然流产风险。据推测，MTHFR和TC基因型之间可能存在显著相互作用，影响自然流产的发病机制。
对76例妊娠6至20周自然流产的胎儿组织样本以及114例健康献血者的对照样本进行MTHFR 677C>T和776C>G多态性基因分型。MTHFR 677TT/TC 776GG和MTHFR 677TT/TC 776CG基因型组合的受试者自然流产的优势比为3.8（95%置信区间1.4 - 9.9，P = 0.005）。
与仅具有这些基因型之一的胚胎相比，具有MTHFR 67TT和TC 776CG或776GG基因型组合的胚胎，这些基因型在成年人中单独与同型半胱氨酸代谢受损相关，自然流产风险增加。
