Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China
Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China
复制标题
中国婴儿叶酸还原携带者（A80G）的基因变异与口面部缺陷和先天性心脏缺陷的风险
DOI：
10.1016/j.annepidem.2005.02.014
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发表时间：
2006-05-01
影响因子：
5.6
通讯作者：
Li, Zhu
中科院分区：
文献类型：
--
作者：
Pei, Lijun;Zhu, Huiping;Li, Zhu
目的：本研究旨在探讨先天性心脏缺陷（CHD）和口面缺陷的风险是否受到后代RFC1基因多态性的影响，或RFC1基因与母亲孕期叶酸使用之间的相互作用。方法：采用病例-对照研究。采用PCR-RFLP方法对82个有腭裂或无腭裂儿童的唇裂家庭、67个有冠心病儿童的家庭和100个非畸形对照家庭进行基因分型。采用家族关联检测RFCI G等位基因。结果：未服用叶酸的母亲与A80/A80基因型相比，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）。在基于家庭的关联试验（FBAT）中，携带RFC1基因G等位基因的后代患冠心病的风险增加（Z = 2.140, P < 0.05）。RFC1基因型或母体叶酸补充与CLP风险之间均未发现显著关联。结论：我们的研究结果表明，rfc1g等位基因可能是叶酸转运的重要候选基因，并与冠心病风险相关。本研究发现了后代RFC1基因型和孕期叶酸摄入量之间的基因营养相互作用对先天性心脏缺陷风险的适度证据。
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. RFCI 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 genenutrient interaction between offspring RFC1 genotype and periconceptional intake of folic acid on the risk of congenital heart defects.