Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
复制标题
叶酸代谢途径中的基因 - 基因相互作用和共鸣心脏缺陷的风险。
DOI：
10.1155/2010/630940
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发表时间：
2010
影响因子：
--
通讯作者：
Mitchell LE
中科院分区：
文献类型：
--
作者：
Lupo PJ;Goldmuntz E;Mitchell LE
圆锥动脉干及相关心脏缺陷（CTRD）是常见的复杂畸形。虽然很少有确定的风险因素，但有证据表明叶酸代谢途径的遗传变异会影响CTRD风险。这项研究是为了评估遗传（即，病例）和该途径中的母体基因-基因相互作用以及CTRD的风险。从费城儿童医院确定的病例-父母三联体（n = 727）对9个叶酸代谢基因的10个功能变体进行基因分型。遗传基因型的分析与先前报道的MTHFR A1298 C和CTRD之间的相关性一致（校正P = 0.02），但没有证据表明CTRD与遗传基因-基因相互作用相关。 对母亲基因型的分析提供了MTHFR C677 T/CBS 844 ins 68相互作用和CTRD风险的证据（未校正P = .02）。这种关联与这种基因型组合对叶酸-同型半胱氨酸生化的影响一致，但仍有待于在独立的研究人群中证实。
Conotruncal and related heart defects (CTRD) are common, complex malformations. Although there are few established risk factors, there is evidence that genetic variation in the folate metabolic pathway influences CTRD risk. This study was undertaken to assess the association between inherited (i.e., case) and maternal gene-gene interactions in this pathway and the risk of CTRD. Case-parent triads (n = 727), ascertained from the Children's Hospital of Philadelphia, were genotyped for ten functional variants of nine folate metabolic genes. Analyses of inherited genotypes were consistent with the previously reported association between MTHFR A1298C and CTRD (adjusted P = .02), but provided no evidence that CTRD was associated with inherited gene-gene interactions. Analyses of the maternal genotypes provided evidence of a MTHFR C677T/CBS 844ins68 interaction and CTRD risk (unadjusted P = .02). This association is consistent with the effects of this genotype combination on folate-homocysteine biochemistry but remains to be confirmed in independent study populations.
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