Relationship between folate level of red cell and MTHFR polymorphisms with unexplained recurrent spontaneous abortion
- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF PERINATAL MEDICINE
- Issue:
- 5
- DOI:
- 10.3760/cma.j.issn.1007-9408.2006.05.008
- Key Word:
- 流产,习惯性;亚甲基四氢叶酸还原酶;多态现象(遗传学);叶酸
Abstract： 目的 观察亚甲基四氢叶酸还原酶(methylene tetrahydrofolate reductase,MTHFR)基因C677T位点多态性及红细胞叶酸水平是否为中国人不明原因重复性自然流产(unexplained recurrent spontaneous abortion,URSA)的危险因素,并分析红细胞叶酸水平与MTHFR基因多态性间的相互关系.方法 选择早期妊娠妇女93例,其中有3次或3次以上不明原因自然流产史者36例(URSA组),正常早期妊娠57例(对照组),用时间分辨荧光法测红细胞叶酸水平,MTHFR基因C677T多态性采用聚合酶链反应-限制性片段长度多态性技术检测.结果 Logistic回归分析显示红细胞叶酸水平与MTHFR基因多态性是URSA发病的危险因素,URSA组MTHFR基因C677T突变TT型的频率为55.6%(20/36),明显高于对照组[31.6%(18/57),P=0.022,OR=2.7,95%CI1.1-6.4].URSA组T等位基因频率显著高于对照组(75.0%和55.0%,P=0.022);对照组红细胞叶酸水平高于URSA组[(679.25±244.95)nmol/L和(538.49±232.65)nmol/L,P=0.008];相同基因型间URSA组红细胞叶酸水平较对照组低,但无统计学意义.红细胞血清叶酸水平≥430.35nmol/L时,不同基因型的发病风险无明显差别(P＞0.05).当红细胞叶酸水平＜430.35 nmol/L时,URSA组TT基因型频率高于对照组[66.7%(10/15)和27.3%(3/11),P=0.044],发病风险与其它基因型比较,从2.7倍增加到5.33倍,95%CI:1.0207-10.057. 结论 红细胞叶酸水平和MTHFR基因型对URSA发病均有影响,低叶酸水平和TT基因型同时存在时URSA发病风险明显增高.
- [1]章斐然,郝玲,王建英,等.中老年人群红细胞叶酸水平调查[J].2003,(12).
- [2]王亚文,李芬,李义平,等.亚甲基四氢叶酸还原酶677C→T突变与不明原因反复流产相关性研究[J].2002,(5).
- [3]邱玲,鄢盛恺,宋耀虹.亚甲基四氢叶酸还原酶基因多态性与深静脉血栓形成[J].2002,(4).
- [4]A M, Molloy,J L, Mills,P N, Kirke,etc.Folate status and neural tube defects.[J].1999,10(2-3).
- [5]Magnaldo S,Bayle J,Dor JF,etc.Clinical B12 deficiency in one case of recurrent spontaneous pregnancy loss.[J].2003,41(8).
- [6]郝玲,唐仪.孕妇血液叶酸水平及其影响因素[J].1996,(6).
- [7]A. Wu,I. Chanarin,G. Slavin,etc.Folate Deficiency in the Alcoholic-its Relationship to Clinical and Haematological Abnormalities, Liver Disease and Folate Stores[J].1975,29(3).
- [8]Phillip A. Isotalo,George A. Wells,James G. Donnelly.Neonatal and Fetal Methylenetetrahydrofolate Reductase Genetic Polymorphisms: An Examination of C677T and A1298C Mutations[J].2000,67(4).
- [9]E F, van der Molen,G E, Arends,W L, Nelen,etc.A common mutation in the 5,10-methylenetetrahydrofolate reductase gene as a new risk factor for placental vasculopathy.[J].2000,182(5).
- [10]Pita ML,Delgado MJ.Folate administration increases n-3 polyunsaturated fatty acids in rat plasma and tissue lipids.[J].2000,84(3).
- [11]葛秀清,张安,李蓉生.妊娠期妇女血清和红细胞叶酸水平[J].1986,(7).
- [12]Spandidos DA,Ricksten A,Palmqvist L,etc.Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos.[J].2002,10(2).
- [13]P, Frosst,H J, Blom,R, Milos,etc.A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.[J].1995,10.
- [14]Horl WH,Fodinger M,Sunder-Plassmann G.Molecular biology of 5,10-methylenetetrahydrofolate reductase.[J].2000,13(1).