prikaz prve stranice dokumenta Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome
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Scientific paper - Original scientific paper
Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome
Genetics&Applications, 4 (2020), 1; 12-17. https://doi.org/10.31383/ga.vol4iss1pp12-17
Vraneković, Jadranka; Slivšek, Goran; Majstorović, Dijana

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Vraneković, J., Slivšek, G. & Majstorović, D. (2020). Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome. Genetics&Applications, 4. (1), 12-17. doi: 10.31383/ga.vol4iss1pp12-17

Vraneković, Jadranka, et al. "Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome." Genetics&Applications, vol. 4, no. 1, 2020, pp. 12-17. https://doi.org/10.31383/ga.vol4iss1pp12-17

Vraneković, Jadranka, Goran Slivšek and Dijana Majstorović. "Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome." Genetics&Applications 4, no. 1 (2020): 12-17. https://doi.org/10.31383/ga.vol4iss1pp12-17

Vraneković, J., Slivšek, G. and Majstorović, D. (2020) 'Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome', Genetics&Applications, 4(1), pp. 12-17. doi: 10.31383/ga.vol4iss1pp12-17

Vraneković J, Slivšek G, Majstorović D. Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome. Genetics&Applications [Internet]. 2020 [cited 2024 June 03];4(1):12-17. doi: 10.31383/ga.vol4iss1pp12-17

J. Vraneković, G. Slivšek and D. Majstorović, "Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome", Genetics&Applications, vol. 4, no. 1, pp. 12-17, 2020. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:538816. [Accessed: 03 June 2024]

Metadata
Title (english)Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome
AuthorJadranka Vraneković
AuthorGoran Slivšek
AuthorDijana Majstorović
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Interdisciplinary Natural Sciences
Abstract (english)
Congenital heart defects (CHD) are the most common abnormalities occurring in 40% -60% of Down syndrome (DS) patients. The 5- methyltetrahydrofolate homocysteine methyl transferase reductase (MTRR) is one of the key regulatory enzymes involved in folate pathway. Disrupted folate pathway due to MTRR polymorphism could be a risk factor for CHD in DS. The aim of the study was to determine the association between polymorphism MTRR 66A> G and CHD in DS. Additionally, the impact of maternal endogenous factors on CHD was analyzed, intake of folate through diet, periconceptional folic acid supplementation, smoking and alcohol drinking. A total of 155 children with DS and 148 their mothers have been enrolled in this study. Genotyping was performed by PCR-RFLP. The frequency of alleles and genotypes of MTRR 66A> G polymorphisms was not significantly different between a group with CHD compared to a group without CHD among DS subjects as well as in their mothers. The mothers with mutated homozygous genotypes who have taken folic acid preparations from the fourth week before pregnancy to eight weeks of pregnancy were more likely to have DS-CHD+ child. The study results suggested that maternal MTRR 66A> G polymorphisms associated with their lifestyle habits such as folic acid intake could altered individual risk for CHD in DS child
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleGenetics&Applications
Numberingvol. 4, no. 1, pp. 12-17
p-ISSN2566-2937
DOIhttps://doi.org/10.31383/ga.vol4iss1pp12-17
URN:NBNurn:nbn:hr:184:538816
Publication2020
ProjectNumber: uniri-biomed-18-230
Title (croatian): Epigenetički i genetički čimbenici u etiologiji prirođenih srčanih grešaka u osoba sa sindromom Down
Acronym: NadSve-Sveučilište u Rijeci-uniri-biomed-18-230
Leader: Jadranka Vraneković
Jurisdiction: Croatia
Funding stream: Sveučilište u Rijeci - Sveučilište u Rijeci
Document URLhttp://bib.irb.hr/1126115
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) icon
Created on2022-03-16 09:31:13