Genetics Department, Hospital Universitario "Dr. José Eleuterio González" and Medicine Faculty, Autonomous University of Nuevo León, Monterrey 64460, Mexico.
Clinical Nutrition, Hospital Universitario "Dr. José Eleuterio González" and Medicine Faculty, Autonomous University of Nuevo León, Monterrey 64460, Mexico.
Genes (Basel). 2022 Nov 15;13(11):2115. doi: 10.3390/genes13112115.
(1) Background: The interaction between single nucleotide variants (SNVs) associated with congenital heart diseases (CHDs) and their gene methylation status has not been well researched. The aim of the present study was to determine if there is a relationship between the methy lation status (MS) of genes and the allelic variants associated with CHDs. (2) Methods: Seven SNVs of the genes , , , and were selected from the literature. DNA extraction, genotyping, and a methylation analysis were performed on healthy subjects and subjects with CHDs. (3) Results: Twenty-two subjects with CHDs were selected as the case group (15 with ventricular septal defects (VSDs) and 7 with atrial septal defects (ASDs)), and 44 healthy subjects comprised the control group. The and genes were hypermethylated in the control group when compared to the case group. When analyzed separately, those with atrial septum defects exhibited greater methylation, except for the gene MTHFR where there were no differences. Only the alternate alleles of MTHFR showed a significantly different methylation status in those without cardiopathy. (4) Conclusions: The and genes were hypermethylated in the control group; however, only the alternate alleles of (rs1801133 and rs1801131) showed a significantly different methylation status.
(1) 背景：与先天性心脏病 (CHD) 相关的单核苷酸变异 (SNV) 与其基因甲基化状态之间的相互作用尚未得到很好的研究。本研究旨在确定与 CHD 相关的基因的甲基化状态 (MS) 是否与等位基因变异有关。(2) 方法：从文献中选择了基因 、 、 、 中的七个 SNV。对健康受试者和 CHD 受试者进行 DNA 提取、基因分型和甲基化分析。(3) 结果：选择 22 例 CHD 患者作为病例组（15 例室间隔缺损 (VSD) 和 7 例房间隔缺损 (ASD)），44 例健康受试者为对照组。与病例组相比，对照组中的 和 基因呈高甲基化状态。单独分析时，除 MTHFR 基因外，房间隔缺损患者的甲基化程度更高，而 MTHFR 基因则没有差异。只有 MTHFR 的替代等位基因在无心脏病患者中表现出明显不同的甲基化状态。(4) 结论：对照组中 和 基因呈高甲基化状态；然而，只有 的替代等位基因 (rs1801133 和 rs1801131) 表现出明显不同的甲基化状态。
