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首页> 外文期刊>Annals of epidemiology >Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China.
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Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China.

机译：中国婴儿还原型叶酸载体（A80G）的遗传变异以及口面缺陷和先天性心脏缺陷的风险。

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PURPOSE: This study was designed to investigate whether the risks of congenital heart defects (CHD) and orofacial defects were influenced by a polymorphism of the offspring's RFC1 or by an interaction between the RFC1 gene and maternal periconceptional use of folic acid. METHODS: A case-control study was conducted. A total of 82 families with a child affected by cleft lip with or without cleft palate (CLP), 67 families with a child-affected by CHD, and 100 nonmalformed control families were genotyped using PCR-RFLP. RFC1 G allele was tested through family-based association test. RESULTS: Among mothers who did not use folic acid, the risks of 4.03 (95% CI = 1.33-12.77) for the G80/G80 genotype and 4.14 (95% CI = 1.06-16.82) for the G80/A80 genotype were observed relative to the A80/A80 genotype for CHD offspring. In family-based association tests (FBAT), offspring carrying the G allele for RFC1 is at increased risk for CHD (Z = 2.140, p < .05). No significant association was found between either RFC1 genotype or maternal folic acid supplementation and the risks of CLP. CONCLUSIONS: Our findings suggest that the RFC1 G allele is likely to be an important candidate gene in folate transport and to be associated with risk for CHD. This study found modest evidence for a gene-nutrient interaction between offspring RFC1 genotype and periconceptional intake of folic acid on the risk of congenital heart defects.
机译：目的：本研究旨在调查先天性心脏缺陷（CHD）和口面部缺陷的风险是否受后代RFC1的多态性影响，或者受RFC1基因与母体围生性使用叶酸之间的相互作用影响。方法：进行病例对照研究。使用PCR-RFLP对82个有唇裂患儿（有或没有a裂）的家庭，67个有CHD患儿的家庭以及100个无畸形的对照家庭进行了基因分型。 RFC1 G等位基因已通过基于家族的关联测试进行了测试。结果：在未使用叶酸的母亲中，相对而言，G80 / G80基因型的风险为4.03（95％CI = 1.33-12.77），G80 / A80基因型的风险为4.14（95％CI = 1.06-16.82）。冠心病后代的A80 / A80基因型。在基于家庭的关联测试（FBAT）中，携带RFC1的G等位基因的后代患冠心病的风险增加（Z = 2.140，p <.05）。 RFC1基因型或孕妇叶酸补充与CLP风险之间未发现显着关联。结论：我们的研究结果表明，RFC1 G等位基因可能是叶酸转运中的重要候选基因，并且与冠心病风险有关。这项研究发现了后代RFC1基因型和围生期叶酸摄入对先天性心脏病风险的影响，基因-营养相互作用的适度证据。

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