No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers
No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers
复制标题
DOI：
10.1079/bjn20051490
复制
发表时间：
2005-08-01
影响因子：
3.6
通讯作者：
Nicolas, JP
中科院分区：
文献类型：
--
作者：
Chango, A;Fillon-Emery, N;Nicolas, JP
导致21三体的不分离的原因尚不清楚。最近的证据表明，5，10-亚甲基四氢叶酸还原酶(MTHFR)和/或蛋氨酸合成酶还原酶(MTRR)可能与母亲患21三体的风险有关。本研究的目的是在法国人群中分析这些发现，并调查常见的叶酸和同型半胱氨酸途径基因的多态，包括MTHFR 677C和GT；T、MTHFR 1298A和GT；C、蛋氨酸合成酶(MTR)2756A和GT；G、胱硫醚β-合酶(CBS)844Ins68和叶酸还原携带者(RFC-1)80G>；A多态是否与21三体的风险有关。通过对119例病例母亲和119例对照母亲的独立和联合基因分型进行了风险分析。MTHFR 677T、MTHFR 1298C、MTR2756G、MTR66G、CBSIns68+和RFC-1 80G等位基因频率在法国病例母亲与对照母亲之间差异无统计学意义。生下21三体儿童的风险似乎与叶酸和同型半胱氨酸代谢相关基因的多态无关。
The cause of the non-disjunction leading to trisomy 21 remains unclear. Recent evidence has suggested that 5,10-methylenetetrahydrofolate reductase (MTHFR) and/or methionine synthase reductase (MTRR) might contribute to the maternal risk of trisomy 21. The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C > T, MTHFR 1298A > C, the methionine synthase (MTR) 2756A > G, the cystathionine beta-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G > A polymorphisms, contribute to the risk of trisomy 21. The risk was studied by analysing independent and combined genotypes in 119 case mothers and 119 control mothers. The MTHFR 677T, MTHFR 1298C, MTR2756G, MTRR66G, CBSIns68+ and the RFC-1 80G allele frequencies were not significantly different among French case mothers, compared with control mothers. The risk of having a child with trisomy 21 did not appear to be linked to polymorphisms in genes associated with folate and homocysteine metabolism.