A common polymorphism in the MTHFD1 gene is a modulator of risk of congenital heart disease

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

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.

• Language: English
• Keywords: congenital heart defects, methylene-tetrahydrofolate dehydrogenase 1, folate supplementation, genetic risk factors
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: FFA - Faculty of Pharmacy; MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2022
• Number of pages: Str. 1-14
• Numbering: Vol. 9, no. 6
• PID: 20.500.12556/RUL-141898
• UDC: 616.1
• ISSN on article: 2308-3425
• DOI: 10.3390/jcdd9060166
• COBISS.SI-ID: 109243907
• Publication date in RUL: 11.10.2022

Record is a part of a journal

• Title: Journal of cardiovascular development and disease
• Shortened title: J. cardiovasc. dev. dis.
• Publisher: MDPI AG
• ISSN: 2308-3425
• COBISS.SI-ID: 523193113

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: prirojene srčne napake, metilen-tetrahidrofolat dehidrogenaza 1, dopolnitev folne kisline, genetski dejavniki tveganja