20.500.12556/RUL-141898 A common polymorphism in the MTHFD1 gene is a modulator of risk of congenital heart disease 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 MTHFD1 was confirmed as an important modulator of CHD risk in both, whereas polymorphisms in MTRR, FPGS, and SLC19A1 were identified as risk factors in only one of the models. A strong synergistic effect on the development of CHDs was detected for MTHFD1 polymorphism and a lack of maternal folate supplementation during early pregnancy. A common polymorphism in the MTHFD1 is a genetic risk factor for the development of CHD, especially in the absence of folate supplementation in early pregnancy. congenital heart defects methylene-tetrahydrofolate dehydrogenase 1 folate supplementation genetic risk factors prirojene srčne napake metilen-tetrahidrofolat dehidrogenaza 1 dopolnitev folne kisline genetski dejavniki tveganja true false true Angleški jezik Slovenski jezik Članek v reviji 2022-10-11 09:51:50 2022-10-11 09:51:53 2022-10-12 03:52:40 0000-00-00 00:00:00 2022 0 0 Str. 1-14 no. 6 Vol. 9 2022 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.1 2308-3425 10.3390/jcdd9060166 109243907 jcdd-09-00166.pdf jcdd-09-00166.pdf 1 31ACFDD908524BC2D029444AB2ACC9FF d138c62d1ce3a33b035156c7fb69eb2f45532b69b46270eaf0c176c940a365c5 b02a2719-4939-11ed-9c94-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=163063 RAZ_Karas_Kuzelicki_Natasa_2022.pdf RAZ_Karas_Kuzelicki_Natasa_2022.pdf 1 31ACFDD908524BC2D029444AB2ACC9FF d138c62d1ce3a33b035156c7fb69eb2f45532b69b46270eaf0c176c940a365c5 8a1be9ad-4939-11ed-9c94-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=163062 Fakulteta za farmacijo Medicinska fakulteta 0 0 0