<i>DNMT3B</i> rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome
Impairments of the genes that encode enzymes that are involved in one-carbon metabolism because of the presence of gene polymorphisms can affect the methylation pattern. The altered methylation profiles of the genes involved in cardiogenesis may result in congenital heart defects (CHDs). The aim of...
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MDPI AG
2023-02-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/3/576 |
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| author | Dijana Majstorović Anita Barišić Ivana Babić Božović Iva Bilić Čače Neven Čače Mauro Štifanić Jadranka Vraneković |
| author_facet | Dijana Majstorović Anita Barišić Ivana Babić Božović Iva Bilić Čače Neven Čače Mauro Štifanić Jadranka Vraneković |
| author_sort | Dijana Majstorović |
| collection | DOAJ |
| description | Impairments of the genes that encode enzymes that are involved in one-carbon metabolism because of the presence of gene polymorphisms can affect the methylation pattern. The altered methylation profiles of the genes involved in cardiogenesis may result in congenital heart defects (CHDs). The aim of this study was to investigate the association between the <i>MTHFR</i> rs1801133, <i>MTHFR</i> rs1801131, <i>MTRR</i> rs1801394, <i>DNMT1</i> rs2228611, <i>DNMT3A</i> rs1550117, <i>DNMT3B</i> rs1569686, and <i>DNMT3B</i> rs2424913 gene polymorphisms and congenital heart defects in Down syndrome (DS) individuals. The study was conducted on 350 participants, including 134 DS individuals with CHDs (DSCHD+), 124 DS individuals without CHDs (DSCHD−), and 92 individuals with non-syndromic CHD. The genotyping was performed using the PCR–RFLP method. A statistically significant higher frequency of the <i>DNMT3B</i> rs2424913 TT in the DSCHD+ individuals was observed. The <i>DNMT3B</i> rs2424913 TT genotype, as well as the T allele, had significantly higher frequencies in the individuals with DS and atrial septal defects (ASDs) in comparison with the individuals with DS and other CHDs. Furthermore, our results indicate a statistically significant effect of the <i>DNMT3B</i> rs1569686 TT genotype in individuals with non-syndromic CHDs. The results of the study suggest that the <i>DNMT3B</i> rs2424913 TT genotypes may be a possible predisposing factor for CHDs in DS individuals, and especially those with ASDs. |
| first_indexed | 2024-03-11T06:30:19Z |
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| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T06:30:19Z |
| publishDate | 2023-02-01 |
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| series | Genes |
| spelling | doaj.art-b39e0016879e4d5991750ff2e1fbdd772023-11-17T11:16:30ZengMDPI AGGenes2073-44252023-02-0114357610.3390/genes14030576<i>DNMT3B</i> rs2424913 as a Risk Factor for Congenital Heart Defects in Down SyndromeDijana Majstorović0Anita Barišić1Ivana Babić Božović2Iva Bilić Čače3Neven Čače4Mauro Štifanić5Jadranka Vraneković6Faculty of Medicine, Juraj Dobrila University of Pula, 52100 Pula, CroatiaFaculty of medicine, Department of Medical Biology and Genetics, University of Rijeka, 51000 Rijeka, CroatiaClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, SloveniaClinical Hospital Centre Rijeka, Department of Pediatrics, 51000 Rijeka, CroatiaClinical Hospital Centre Rijeka, Department of Pediatrics, 51000 Rijeka, CroatiaFaculty of Natural Sciences, Juraj Dobrila University of Pula, 52100 Pula, CroatiaFaculty of medicine, Department of Medical Biology and Genetics, University of Rijeka, 51000 Rijeka, CroatiaImpairments of the genes that encode enzymes that are involved in one-carbon metabolism because of the presence of gene polymorphisms can affect the methylation pattern. The altered methylation profiles of the genes involved in cardiogenesis may result in congenital heart defects (CHDs). The aim of this study was to investigate the association between the <i>MTHFR</i> rs1801133, <i>MTHFR</i> rs1801131, <i>MTRR</i> rs1801394, <i>DNMT1</i> rs2228611, <i>DNMT3A</i> rs1550117, <i>DNMT3B</i> rs1569686, and <i>DNMT3B</i> rs2424913 gene polymorphisms and congenital heart defects in Down syndrome (DS) individuals. The study was conducted on 350 participants, including 134 DS individuals with CHDs (DSCHD+), 124 DS individuals without CHDs (DSCHD−), and 92 individuals with non-syndromic CHD. The genotyping was performed using the PCR–RFLP method. A statistically significant higher frequency of the <i>DNMT3B</i> rs2424913 TT in the DSCHD+ individuals was observed. The <i>DNMT3B</i> rs2424913 TT genotype, as well as the T allele, had significantly higher frequencies in the individuals with DS and atrial septal defects (ASDs) in comparison with the individuals with DS and other CHDs. Furthermore, our results indicate a statistically significant effect of the <i>DNMT3B</i> rs1569686 TT genotype in individuals with non-syndromic CHDs. The results of the study suggest that the <i>DNMT3B</i> rs2424913 TT genotypes may be a possible predisposing factor for CHDs in DS individuals, and especially those with ASDs.https://www.mdpi.com/2073-4425/14/3/576congenital heart defectDNA methyltransferaseDown syndrome<i>MTHFR</i><i>MTRR</i>single-nucleotide polymorphism |
| spellingShingle | Dijana Majstorović Anita Barišić Ivana Babić Božović Iva Bilić Čače Neven Čače Mauro Štifanić Jadranka Vraneković <i>DNMT3B</i> rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome Genes congenital heart defect DNA methyltransferase Down syndrome <i>MTHFR</i> <i>MTRR</i> single-nucleotide polymorphism |
| title | <i>DNMT3B</i> rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome |
| title_full | <i>DNMT3B</i> rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome |
| title_fullStr | <i>DNMT3B</i> rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome |
| title_full_unstemmed | <i>DNMT3B</i> rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome |
| title_short | <i>DNMT3B</i> rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome |
| title_sort | i dnmt3b i rs2424913 as a risk factor for congenital heart defects in down syndrome |
| topic | congenital heart defect DNA methyltransferase Down syndrome <i>MTHFR</i> <i>MTRR</i> single-nucleotide polymorphism |
| url | https://www.mdpi.com/2073-4425/14/3/576 |
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