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

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

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.

• Jezik: Angleški jezik
• Ključne besede: congenital heart defects, methylene-tetrahydrofolate dehydrogenase 1, folate supplementation, genetic risk factors
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: FFA - Fakulteta za farmacijo ; MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2022
• Št. strani: Str. 1-14
• Številčenje: Vol. 9, no. 6
• PID: 20.500.12556/RUL-141898
• UDK: 616.1
• ISSN pri članku: 2308-3425
• DOI: 10.3390/jcdd9060166
• COBISS.SI-ID: 109243907
• Datum objave v RUL: 11.10.2022

KARAS KUŽELIČKI, Nataša, ŠMID, Alenka, VIDMAR, Maša, KEK, Tina, GERŠAK, Borut, MAZIĆ, Uroš, MLINARIČ-RAŠČAN, Irena in GERŠAK, Ksenija, 2022, A common polymorphism in the MTHFD1 gene is a modulator of risk of congenital heart disease. Journal of cardiovascular development and disease [na spletu]. 2022. Vol. 9, no. 6, p. 1–14. [Dostopano 29 junij 2025]. DOI 10.3390/jcdd9060166. Pridobljeno s: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=slv&id=141898

Gradivo je del revije

• Naslov: Journal of cardiovascular development and disease
• Skrajšan naslov: J. cardiovasc. dev. dis.
• Založnik: MDPI AG
• ISSN: 2308-3425
• COBISS.SI-ID: 523193113

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: prirojene srčne napake, metilen-tetrahidrofolat dehidrogenaza 1, dopolnitev folne kisline, genetski dejavniki tveganja