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首页> 外文期刊>Journal of genetics >Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis
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Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis

机译：孕产妇MTHFR多态性（677 C-T）和唐氏综合症患儿的风险：荟萃分析

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Methylenetetrahydrofolate reductase (MTHFR) is the most important gene that participates in folate metabolism. Presence of valine instead of alanine at position 677 and elevated levels of homocystein causes DNA hypomethylation which in turn favours nondisjunction. In this study, we conducted a meta-analysis to establish link between maternal single-nucleotide polymorphism (SNP) and birth of Down's syndrome (DS) child. A total of 37 case-control studies were selected for analysis including our own, in which we investigated 110 cases and 111 control mothers. Overall, the result of meta-analysis showed significant risk of DS affected by the presence of maternal SNP (MTHFR 677 C-T OR = 0.816, 95% CI = 0.741-0.900, P < 0.0001). Heterogeneity of high magnitude was observed among the studies. The chi-square value suggested a highly significant association between homozygous mutant TT genotype and birth of DS child (chi(2) = 23.63, P = 0.000). Genetic models suggested that 'T' allele possesses high risk for DS whether present in dominant (OR = 1.23, 95% CI = 1.13-1.34); codominant (OR = 1.17, 95% CI = 1.10-1.25) or recessive (OR = 1.21, 95% CI = 1.05-1.38) form. The analysis from all 37 studies combined together suggested that MTHFR 677 C-T is a major risk factor for DS birth.
机译：亚甲基四氢叶酸还原酶（MTHFR）是参与叶酸代谢的最重要基因。缬氨酸而不是丙氨酸存在于677位，高半胱氨酸水平升高会导致DNA甲基化不足，这反过来又有利于分离。在这项研究中，我们进行了荟萃分析，以建立母亲单核苷酸多态性（SNP）与唐氏综合症（DS）子女的出生之间的联系。总共选择了37个病例对照研究进行分析，包括我们自己的研究，在其中我们调查了110例病例和111个对照母亲。总体而言，荟萃分析的结果表明，存在母体SNP会影响DS的显着风险（MTHFR 677 C-T OR = 0.816，95％CI = 0.741-0.900，P <0.0001）。在这些研究中观察到了高度的异质性。卡方值表明纯合突变体TT基因型与DS婴儿的出生之间存在高度显着相关性（chi（2）= 23.63，P = 0.000）。遗传模型表明，“ T”等位基因无论是否存在于显性基因中，都具有较高的DS风险（OR = 1.23，95％CI = 1.13-1.34）;共显性（OR = 1.17，95％CI = 1.10-1.25）或隐性（OR = 1.21，95％CI = 1.05-1.38）形式。所有37项研究的综合分析表明，MTHFR 677 C-T是DS出生的主要危险因素。

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