Nataša Karas Kuželički (Author), Alenka Šmid (Author), Maša Vidmar (Author), Tina Kek (Author), Borut Geršak (Author), Uroš Mazić (Author), Irena Mlinarič-Raščan (Author), Ksenija Geršak (Author)

Abstract

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.

Keywords

congenital heart defects;methylene-tetrahydrofolate dehydrogenase 1;folate supplementation;genetic risk factors;

Data

Language: English
Year of publishing:
Typology: 1.01 - Original Scientific Article
Organization: UL MF - Faculty of Medicine
UDC: 616.1
COBISS: 109243907 Link will open in a new window
ISSN: 2308-3425
Views: 5
Downloads: 1
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Other data

Secondary language: Slovenian
Secondary keywords: prirojene srčne napake;metilen-tetrahidrofolat dehidrogenaza 1;dopolnitev folne kisline;genetski dejavniki tveganja;
Type (COBISS): Article
Pages: str. 1-14
Volume: ǂVol. ǂ9
Issue: ǂno. ǂ6
Chronology: 2022
DOI: 10.3390/jcdd9060166
ID: 16716402