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A common polymorphism in the MTHFD1 gene is a modulator of risk of congenital heart disease [Elektronski vir]Karas Kuželički, Nataša ...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.Source: Journal of cardiovascular development and disease. - ISSN 2308-3425 (Vol. 9, no. 6, 2022, str. 1-14)Type of material - e-article ; adult, seriousPublish date - 2022Language - englishCOBISS.SI-ID - 109243907
Author
Karas Kuželički, Nataša |
Šmid, Alenka, farmacevtka |
Vidmar, Maša, farmacevtka |
Kek, Tina |
Geršak, Borut |
Mazić, Uroš |
Mlinarič-Raščan, Irena |
Geršak, Ksenija
Topics
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
Author | Karas Kuželički, Nataša ... |
Title | A common polymorphism in the MTHFD1 gene is a modulator of risk of congenital heart disease [Elektronski vir] |
Publication date | 2022-05-24 |
COBISS.SI-ID | 109243907 |
Publication version in repository | Publisher's version |
Publication licence | Creative Commons Attribution 4.0 International |
Embargo | Immediate publication for public |
Project(s) from which the publication was funded
Title | Acronym | Project ID | Funder |
---|---|---|---|
Metabolni in prirojeni dejavniki reproduktivnega zdravja, porod III | P3-0124-2020 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
|
Farmacevtska kemija: načrtovanje, sinteza in vrednotenje učinkovin | P1-0208-2022 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
|
Novi izzivi folatne terapije v porodništvu in ginekologiji | J3-8207-2017 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
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https://mdpi-res.com/d_attachment/jcdd/jcdd-09-00166/article_deploy/jcdd-09-00166.pdf?version=1653395861 |
https://repozitorij.uni-lj.si/IzpisGradiva.php?id=141898 |
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Karas Kuželički, Nataša | 21459 |
Šmid, Alenka, farmacevtka | 29982 |
Vidmar, Maša, farmacevtka | 38277 |
Kek, Tina | 55945 |
Geršak, Borut | 04768 |
Mazić, Uroš | 32228 |
Mlinarič-Raščan, Irena | 12443 |
Geršak, Ksenija | 00814 |
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