亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶的母体多态性与唐氏综合征患儿的风险
Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome.
作者信息
Pozzi Elisa, Vergani Patrizia, Dalprà Leda, Combi Romina, Silvestri Daniela, Crosti Francesca, Dell'Orto Mariagrazia, Valsecchi Maria Grazia
机构信息
Department of Obstetrics and Gynecology, University of Milano-Bicocca, S. Gerardo Hospital, Monza, Italy.
出版信息
Am J Obstet Gynecol. 2009 Jun;200(6):636.e1-6. doi: 10.1016/j.ajog.2008.12.046. Epub 2009 Feb 28.
OBJECTIVE
The purpose of this research was to study factors that are involved in centromeric hypomethylation in the pathogenesis of Down syndrome (DS).
STUDY DESIGN
This was a case-control study to evaluate the association between methyltetrahydrofolate reductase (MTHFR) C677T and methionine synthetase-reductase (MTRR) A66G polymorphisms and the risk of DS; we compared mothers in Italy who had children with DS and matched control subjects.
RESULTS
Seventy-four cases of DS caused by an error in maternal meiosis were compared with 184 matched control subjects. The frequencies of the MTHFR C677T polymorphism were similar between the 2 groups. As regards the MTRR A66G polymorphism, the presence of the mutated G allele either in the heterozygous or homozygous form was significantly more common among mothers of children with DS than among control subjects (odds ratio, 2.21; 95% CI, 1.11-4.40).
CONCLUSION
In a population with a high prevalence of the mutated T allele, maternal MTRR A66G, but not MTHFR, polymorphisms are associated with Down syndrome.
目的
本研究旨在探讨唐氏综合征（DS）发病机制中着丝粒低甲基化所涉及的因素。
研究设计
这是一项病例对照研究，旨在评估亚甲基四氢叶酸还原酶（MTHFR）C677T和蛋氨酸合成酶还原酶（MTRR）A66G基因多态性与DS风险之间的关联；我们比较了意大利患有DS患儿的母亲与匹配的对照受试者。
结果
将74例由母亲减数分裂错误导致的DS病例与184例匹配的对照受试者进行比较。两组之间MTHFR C677T基因多态性的频率相似。关于MTRR A66G基因多态性，DS患儿母亲中杂合或纯合形式的突变G等位基因的存在明显比对照受试者更常见（优势比，2.21；95%可信区间，1.11 - 4.40）。
结论
在突变T等位基因高流行率的人群中，母亲的MTRR A66G基因多态性而非MTHFR基因多态性与唐氏综合征相关。
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