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Pregled bibliografske jedinice broj: 1257184

DNMT3B rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome


(Clinical institute of genomic medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia) Majstorović, Dijana; Barišić, Anita; Božović Babić, Ivana; Čače Bilić, Iva; Čače, Neven; Štifanić, Mauro; Vraneković, Jadranka
DNMT3B rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome // Genes, 14 (2023), 3; 14030576, 11 doi:10.3390/genes14030576 (recenziran, članak, znanstveni)


CROSBI ID: 1257184 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
DNMT3B rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome

Autori
Majstorović, Dijana ; Barišić, Anita ; Božović Babić, Ivana ; Čače Bilić, Iva ; Čače, Neven ; Štifanić, Mauro ; Vraneković, Jadranka

Kolaboracija
Clinical institute of genomic medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia

Izvornik
Genes (2073-4425) 14 (2023), 3; 14030576, 11

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
congenital heart defect ; DNA methyltransferase ; Down syndrome ; MTHFR ; MTRR ; single-nucleotide polymorphism

Sažetak
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 MTHFR rs1801133, MTHFR rs1801131, MTRR rs1801394, DNMT1 rs2228611, DNMT3A rs1550117, DNMT3B rs1569686, and DNMT3B 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 DNMT3B rs2424913 TT in the DSCHD+ individuals was observed. The DNMT3B 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 DNMT3B rs1569686 TT genotype in individuals with non‐ syndromic CHDs. The results of the study suggest that the DNMT3B rs2424913 TT genotypes may be a possible predisposing factor for CHDs in DS individuals, and especially those with ASDs.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekti:
--uniri-biomed-18-230 - Epigenetički i genetički čimbenici u etiologiji prirođenih srčanih grešaka u osoba sa sindromom Down (Vraneković, Jadranka) ( CroRIS)

Ustanove:
Medicinski fakultet, Rijeka,
Klinički bolnički centar Rijeka,
Sveučilište Jurja Dobrile u Puli,
Sveučilište u Rijeci

Poveznice na cjeloviti tekst rada:

Pristup cjelovitom tekstu rada doi www.mdpi.com

Citiraj ovu publikaciju:

(Clinical institute of genomic medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia) Majstorović, Dijana; Barišić, Anita; Božović Babić, Ivana; Čače Bilić, Iva; Čače, Neven; Štifanić, Mauro; Vraneković, Jadranka
DNMT3B rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome // Genes, 14 (2023), 3; 14030576, 11 doi:10.3390/genes14030576 (recenziran, članak, znanstveni)
(Clinical institute of genomic medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia) (Clinical institute of genomic medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia) Majstorović, Dijana, Barišić, A., Božović Babić, I., Čače Bilić, I., Čače, N., Štifanić, M. & Vraneković, J. (2023) DNMT3B rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome. Genes, 14 (3), 14030576, 11 doi:10.3390/genes14030576.
@article{article, author = {Majstorovi\'{c}, Dijana and Bari\v{s}i\'{c}, Anita and Bo\v{z}ovi\'{c} Babi\'{c}, Ivana and \v{C}a\v{c}e Bili\'{c}, Iva and \v{C}a\v{c}e, Neven and \v{S}tifani\'{c}, Mauro and Vranekovi\'{c}, Jadranka}, year = {2023}, pages = {11}, DOI = {10.3390/genes14030576}, chapter = {14030576}, keywords = {congenital heart defect, DNA methyltransferase, Down syndrome, MTHFR, MTRR, single-nucleotide polymorphism}, journal = {Genes}, doi = {10.3390/genes14030576}, volume = {14}, number = {3}, issn = {2073-4425}, title = {DNMT3B rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome}, keyword = {congenital heart defect, DNA methyltransferase, Down syndrome, MTHFR, MTRR, single-nucleotide polymorphism}, chapternumber = {14030576} }
@article{article, author = {Majstorovi\'{c}, Dijana and Bari\v{s}i\'{c}, Anita and Bo\v{z}ovi\'{c} Babi\'{c}, Ivana and \v{C}a\v{c}e Bili\'{c}, Iva and \v{C}a\v{c}e, Neven and \v{S}tifani\'{c}, Mauro and Vranekovi\'{c}, Jadranka}, year = {2023}, pages = {11}, DOI = {10.3390/genes14030576}, chapter = {14030576}, keywords = {congenital heart defect, DNA methyltransferase, Down syndrome, MTHFR, MTRR, single-nucleotide polymorphism}, journal = {Genes}, doi = {10.3390/genes14030576}, volume = {14}, number = {3}, issn = {2073-4425}, title = {DNMT3B rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome}, keyword = {congenital heart defect, DNA methyltransferase, Down syndrome, MTHFR, MTRR, single-nucleotide polymorphism}, chapternumber = {14030576} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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