Murakami S, Matsubara N, Saitoh M, Miyakaw S, Shoji M, Kubo T
Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.
J Obstet Gynaecol Res. 2001 Dec;27(6):349-52. doi: 10.1111/j.1447-0756.2001.tb01284.x.
Our purpose was to clarify the influence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism on plasma homocysteine (Hcy) concentrations during early pregnancy.
Between 1996 and 1998, Hcy concentration and MTHFR gene polymorphism were studied in 840 pregnant women between 6 to 12 weeks' gestation. Hcy concentration was measured by amino acid autoanalyzer (DLC-300, Nihon Denshi), and MTHFR genotypes were determined by the PCR/RFLP methods. Pregnancy outcomes were compared in association with Hcy concentration and MTHFR genotypes.
A total of 816 of the 840 women were enrolled into the study because MTHFR genotypes were not available in 24 women. Genotypes of C677T in the MTHFR gene were CC: CT: TT (%) = 280 (34.3): 400 (49.0): 136 (16.7). Plasma Hcy concentration was significantly (p < 0.0001) higher in women with TT genotype than other genotypes [CC: CT: TT = 5.67 (2.8-10.6): 5.80 (2.5-20.1): 6.91 (3.5-20.9) nmol/ml, median (range)]. Women with hyperhomocysteinemia had severe preeclampsia (2 of 35 vs 5 of 714, p < 0.01) and stillbirth (2 of 35 vs 10 of 714, p < 0.05) more frequently than normohomocysteinemia.
Plasma Hcy concentration during early pregnancy was higher in women with homozygote for the T677 allele in the MTHFR gene than other genotypes.
我们的目的是阐明亚甲基四氢叶酸还原酶（MTHFR）基因多态性对孕早期血浆同型半胱氨酸（Hcy）浓度的影响。
1996年至1998年期间，对840名妊娠6至12周的孕妇进行了Hcy浓度和MTHFR基因多态性研究。采用氨基酸自动分析仪（DLC - 300，日本电色）测定Hcy浓度，通过聚合酶链反应/限制性片段长度多态性方法（PCR/RFLP）确定MTHFR基因型。将妊娠结局与Hcy浓度和MTHFR基因型进行关联比较。
840名女性中有816名纳入研究，因为24名女性无法获得MTHFR基因型。MTHFR基因C677T基因型为CC:CT:TT（%）= 280（34.3）:400（49.0）:136（16.7）。TT基因型女性的血浆Hcy浓度显著高于其他基因型女性（p < 0.0001）[CC:CT:TT = 5.67（2.8 - 10.6）:5.80（2.5 - 20.1）:6.91（3.5 - 20.9）nmol/ml，中位数（范围）]。与同型半胱氨酸正常血症女性相比，高同型半胱氨酸血症女性发生重度子痫前期（35例中有2例 vs 714例中有5例，p < 0.01）和死产（35例中有2例 vs 714例中有10例，p < 0.05）的频率更高。
MTHFR基因T677等位基因纯合子女性孕早期的血浆Hcy浓度高于其他基因型女性。
