Congenital heart diseases are one of the most common multi‐factorial fetal abnormalities caused by a complex of endo‐ and exogenous factors. It is known that mutations in xenobiotic biotransformation genes can be associated with the pathogenesis of congenital heart diseases. In the presented research, 131 children with congenital heart diseases and 101 women having children with this pathology were included in the study group. In control group, 103 healthy children and their mothers were included. Single‐nucleotide polymorphisms in the xenobiotic biotransformation genes CYP1A1 (rs1048943), CYP1A2 (rs762551), GSTP1 (rs6591256, rs1871042 and rs17593068) were detected by the real‐time polymerase chain reaction. Gene–gene interactions were determined using the Multifactor Dimensionality Reduction method. We obtained no difference in the frequency of CYP1A1, CYP1A2 and GSTP1 between the study and control groups. At the same time, the genetic combinations GSTP1 (rs6591256)—GSTP1 (rs1871042) and GSTP1 (rs6591256)—GSTP1 (rs1871042)—CYP1A1 (rs1048943) in women; and GSTP1 (rs1793068)—GSTP1 (rs6591256)—GSTP1 (rs1871042)—CYP1A1 (rs1048943)—CYP1A2 (rs762551) in children contribute to the pathogenesis of congenital heart diseases.

中文翻译：

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先天性心脏病发展的遗传易感性：异生物转化基因的作用

先天性心脏病是由多种内源性和外源性因素共同引起的最常见的多因素胎儿畸形之一。众所周知，外源生物转化基因的突变可能与先天性心脏病的发病机制有关。在所呈现的研究中，研究组包括 131 名患有先天性心脏病的儿童和 101 名患有这种病理的孩子的妇女。对照组包括103名健康儿童及其母亲。外源生物转化基因CYP1A1 (rs1048943)、CYP1A2 (rs762551)、GSTP1 的单核苷酸多态性(rs6591256, rs1871042 和 rs17593068) 通过实时聚合酶链反应检测。使用多因素降维方法确定基因 - 基因相互作用。我们发现研究组和对照组之间CYP1A1、CYP1A2和GSTP1的频率没有差异。同时，女性的基因组合GSTP1（rs6591256）-GSTP1（rs1871042）和GSTP1（rs6591256）-GSTP1（rs1871042）-CYP1A1（rs1048943）；和GSTP1 (rs1793068) —GSTP1 (rs6591256) —GSTP1 (rs1871042) —CYP1A1 (rs1048943)—儿童中的CYP1A2 (rs762551) 有助于先天性心脏病的发病机制。