Li Xiujuan, Jiang Jing, Xu Min, Xu Mei, Yang Yan, Lu Wei, Yu Xuemei, Ma Jianlin, Pan Jiakui
Obstetric, Chengyang People's Hospital of Qingdao, Qingdao, Shandong Province, PR China.
Gynecol Obstet Invest. 2015;79(2):107-12. doi: 10.1159/000367656. Epub 2015 Jan 23.
This study aimed to detect the genotype distributions and allele frequencies of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphisms of pregnant women in Jiaodong region in China, and to investigate whether folic acid supplementation affect the pregnancy complications.
A total of 7,812 pregnant women from the Jiaodong region in Shandong province in China.
By using Taqman-MGB, 2,928 pregnant women (case group) were tested for the genotype distributions and allele frequencies of MTHFR C677T, A1298C and MTRR A66G polymorphisms. Folic acid metabolism ability was ranked at four levels and then pregnant women in different rank group were supplemented with different doses of folic acid. Their pregnancy complications were followed up and compared with 4,884 pregnant women without folic acid supplementation (control group) in the same hospital.
The allele frequencies of MTHFR C677T were 49.1 and 50.9%; those of MTHFR A1298C were 80.2 and 19.8%, and those of MTRR A66G were 74.1 and 25.9%. After supplemented with folic acid, the complication rates in different age groups were significantly reduced, especially for gestational diabetes mellitus and hypertension.
Periconceptional folic acid supplementation and healthcare following gene polymorphism testing may be a powerful measure to decrease congenital malformations.
本研究旨在检测中国胶东地区孕妇亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C以及蛋氨酸合成酶还原酶(MTRR)A66G基因多态性的基因型分布及等位基因频率,并探讨叶酸补充是否会影响妊娠并发症。
选取来自中国山东省胶东地区的7812名孕妇。
采用Taqman-MGB技术,对2928名孕妇(病例组)进行MTHFR C677T、A1298C以及MTRR A66G基因多态性的基因型分布及等位基因频率检测。根据叶酸代谢能力将孕妇分为四个等级,然后对不同等级组的孕妇补充不同剂量的叶酸。对其妊娠并发症进行随访,并与同一医院4884名未补充叶酸的孕妇(对照组)进行比较。
MTHFR C677T的等位基因频率分别为49.1%和50.9%;MTHFR A1298C的等位基因频率分别为80.2%和19.8%,MTRR A66G的等位基因频率分别为74.1%和25.9%。补充叶酸后,不同年龄组的并发症发生率显著降低,尤其是妊娠期糖尿病和高血压。
孕前补充叶酸并在基因多态性检测后进行保健可能是降低先天性畸形的有力措施。