Karas Kuželički Nataša, Šmid Alenka, Vidmar Golja Maša, Kek Tina, Geršak Borut, Mazič Uroš, Mlinarič-Raščan Irena, Geršak Ksenija
Department of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Aškerčeva Cesta 7, 1000 Ljubljana, Slovenia.
Department of Obstetrics and Gynaecology, University Medical Centre Ljubljana, Zaloška 2, 1000 Ljubljana, Slovenia.
J Cardiovasc Dev Dis. 2022 May 24;9(6):166. doi: 10.3390/jcdd9060166.
Several environmental and genetic factors may influence the risk of congenital heart defects (CHDs), which can have a substantial impact on pediatric morbidity and mortality. We investigated the association of polymorphisms in the genes of the folate and methionine pathways with CHDs using different strategies: a case-control, mother-child pair design, and a family-based association study. The polymorphism rs2236225 in the was confirmed as an important modulator of CHD risk in both, whereas polymorphisms in , , and were identified as risk factors in only one of the models. A strong synergistic effect on the development of CHDs was detected for polymorphism and a lack of maternal folate supplementation during early pregnancy. A common polymorphism in the is a genetic risk factor for the development of CHD, especially in the absence of folate supplementation in early pregnancy.
多种环境和遗传因素可能会影响先天性心脏病（CHD）的风险，而先天性心脏病会对儿童的发病率和死亡率产生重大影响。我们采用不同策略研究了叶酸和蛋氨酸途径相关基因多态性与先天性心脏病之间的关联：病例对照研究、母婴配对设计以及基于家系的关联研究。 中rs2236225多态性在两种研究中均被确认为先天性心脏病风险的重要调节因子，而 、 和 中的多态性仅在其中一种模型中被确定为风险因素。对于 多态性和孕早期母亲缺乏叶酸补充的情况，检测到对先天性心脏病发生有强烈的协同作用。 中的一种常见多态性是先天性心脏病发生的遗传风险因素，尤其是在孕早期缺乏叶酸补充的情况下。
