%0 Journal Article
%T Folate gene polymorphism and the risk of Down syndrome pregnan-cies in young Chinese women<br>年轻母亲叶酸代谢基因多态性与唐氏综合征发生的关系
%A 廖亚平
%A 鲍明升
%A 刘长青
%A 刘辉
%A 张鼎
%J 遗传
%D 2010
%I 
%X To explore the relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), reduced folate carrier1 (RFC-1), methionine synthase (MTR) involved in folate metabolism and the risk of offsprings of young Chinese women with Down syndrome (DS) through a case-control study, the polymorphisms of MTHFR 677C>T, MTRR 66A>G, RFC-1 80G>A, and MTR 2756A>G in 60 mothers of children with DS and 68 control mothers were investigated by PCR-RFLP. Significant differences in alle-lic frequencies were present between the cases and controls for MTHFR (P<0.05), but not in allelic frequencies for MTRR, RFC-1, and MTR. Homozygous MTHFR 677C>T polymorphism was more prevalent among the mothers of children with DS than among the control mothers, with an odds ratio of 3.51 (OR=3.51, 95% CI=1.30~9.46, P<0.05). No significant association was observed in the combined heterozygotes. In addition, the homozygous MTRR 66A>G polymorphism was independently associated with a 3.16-fold increase in estimated risk (OR=3.16, 95% CI=1.20~8.35, P<0.05). The increased risk of DS for homozygous RFC-1 80G>A was not associated with MTR 2756A>G. Positive interactions were found for the following genotype-pairs: MTHFR(CT+TT)/MTRR GG, MTHFR (CT+TT)/RFC-1 AA, MTHFR CC/MTR(AG+GG), MTHFR (CT+TT)/MTR AA, MTRR GG/MTR AA, and RFC-1 AA/MTRAA. In conclusion, MTHFR 677C>T and MTRR 66A>G polymorphisms are two independent risk factors for DS pregnancies in young women, but RFC-1 80G>A and MTR 2756A>G polymorphism are not independent risk factor. A role for combined genotypes in the risk of DS pregnancies cannot be excluded.
%K 唐氏综合征
%K 亚甲基四氢叶酸还原酶
%K 甲硫氨酸合成还原酶
%K 还原叶酸载体基因
%K 蛋氨酸合酶
%K 多态性
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=C595921D47A8F603CA252FB527B1FEC1&yid=140ECF96957D60B2&vid=9971A5E270697F23&iid=94C357A881DFC066&sid=FCACFF68346F8D4F&eid=4D4C81DBA842B7BD&journal_id=0253-9772&journal_name=遗传&referenced_num=0&reference_num=22