背景：DNA甲基化是解释营养素与参与宫内生长发育编程的基因之间相互作用的最佳表观遗传机制。先天性心脏病甲基化异常的一个可能原因是叶酸甲基化调节途径；然而，VSD相关基因的机制和甲基化模式尚不完全清楚.
目的：确定母亲饮食中叶酸（FA）的摄入量是否与VSD相关基因（AXIN1，MTHFR，TBX1和TBX20）。
方法：前瞻性病例对照研究；对48名母亲及其子女进行了评估。母亲的饮食变量是通过食物频率问卷收集的，重点是FA和FA补充剂的消费。在儿童中确定了基因启动子的MS。
结果：对照组母亲中FA补充剂的摄入量明显较高。就母亲的叶酸消费量而言，在怀孕的前三个月发现了显着的差异。在VSD和对照儿童的MTHFR和AXIN1基因的MS中观察到显着差异。在对照组和VSD儿童中发现了母体FA补充与AXIN1和TBX20基因MS之间的相关性，分别。
结论：AXIN1基因的低MS和TBX20基因的高MS与母体补充FA有关。
BACKGROUND: DNA methylation is the best epigenetic mechanism for explaining the interactions between nutrients and genes involved in intrauterine growth and development programming. A possible contributor of methylation abnormalities to congenital heart disease is the folate methylation regulatory pathway; however, the mechanisms and methylation patterns of VSD-associated genes are not fully understood.
OBJECTIVE: To determine if maternal dietary intake of folic acid (FA) is related to the methylation status (MS) of VSD-associated genes (AXIN1, MTHFR,
TBX1, and TBX20).
METHODS: Prospective case-control
study; 48 mothers and their children were evaluated. The mothers\' dietary variables were collected through a food frequency questionnaire focusing on FA and the consumption of supplements with FA. The MS of promoters of genes was determined in the children.
RESULTS: The intake of FA supplements was significantly higher in the control mothers. In terms of maternal folic acid consumption, significant differences were found in the first trimester of pregnancy. Significant differences were observed in the MS of MTHFR and AXIN1 genes in VSD and control children. A correlation between maternal FA supplementation and MS of AXIN1 and TBX20 genes was found in control and VSD children, respectively.
CONCLUSIONS: A lower MS of AXIN1 genes and a higher MS of TBX20 genes is associated with FA maternal supplementation.
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