Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China

查看全文 作　　者：Shao-shuai WANG Fu-yuan QIAO Ling FENG Juan-juan [1]LV

机构地区：[1]Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China

出　　处：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》索引2008年第9卷第2期,共7页

基　　金：Project (No. 2003ABA148) supported by the Science Foundation of Hubei Province, China 摘　　要：Objective: To explore the relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), the central enzymes in folate metabolism that affects DNA methylation and synthesis, and the risk of Down syndrome in China. Methods: Genomic DNA was isolated from the peripheral lymphocytes of 64 mothers of children with Down syndrome and 70 age matched control subjects. Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTHFR 677C→T, MTRR 66A→G and the relationship between these genotypes and the risk of Down syndrome was analyzed. Results: The results show that the MTHFR 677C→T polymorphism is more prevalent among mothers of children with Down syndrome than among control mothers, with an odds ratio of 3.78 (95% confidence interval (CI), 1.78~8.47). In addition, the homozygous MTRR 66A→G polymorphism was independently associated with a 5.2-fold increase in estimated risk (95% CI, 1.90~14.22). The combined presence of both polymorphisms was associated with a greater risk of Down syndrome than the presence of either alone, with an odds ratio of 6.0 (95% CI, 2.058~17.496). The two polymorphisms appear to act without a multiplicative interaction. Conclusion: MTHFR and MTRR gene mutation alleles are related to Down syndrome, and CT, TT and GG gene mutation types increase the risk of Down syndrome. 关键词：DNA 连接酶唐氏综合征叶酸

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Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China

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