A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase
A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase
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DOI：
10.1002/bdra.20049
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发表时间：
2004-10-01
影响因子：
--
通讯作者：
Belmont, JW
中科院分区：
文献类型：
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作者：
McBride, KL;Fernbach, S;Belmont, JW
背景技术背景：主动脉瓣狭窄（AVS）、主动脉缩窄（CoA）和左心发育不良综合征（HLHS）是左心室流出道的梗阻性畸形，在婴儿死亡率中占很大比例。两个以前的小病例对照研究表明，亚甲基四氢叶酸还原酶（MTHFR）多态性可能与这组畸形。方法：我们采用以家族为基础的关联设计，入选标准为非综合征性诊断的AVS、CoA和HLHS，检测杂合子的优势比，
BACKGROUND: Aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) are obstructive malformations of the left ventricular outflow tract that account for a significant proportion of infant mortality. Two previous small case-control studies suggested methylenetetrahydrofolate reductase (MTHFR) polymorphisms may be associated with this group of malformations. METHODS: We used a family-based association design with inclusion criteria of nonsyndromic diagnosis of AVS, CoA, and HLHS, powered to detect an odds ratio for the heterozygote of