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Pregled bibliografske jedinice broj: 1191634

DNA METHYLTRANSFERASE GENES AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME


Vraneković, Jadranka; Barišić, Anita; Majstorović, Dijana; Babić Božović, Ivana; Bilić Čače, Iva Brajenović Milić, Bojana
DNA METHYLTRANSFERASE GENES AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME // 13th European Cytogenomics Conference (ECA 2021)
online, 2021. str. 36-37 (poster, nije recenziran, sažetak, znanstveni)


CROSBI ID: 1191634 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
DNA METHYLTRANSFERASE GENES AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME

Autori
Vraneković, Jadranka ; Barišić, Anita ; Majstorović, Dijana ; Babić Božović, Ivana ; Bilić Čače, Iva Brajenović Milić, Bojana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Skup
13th European Cytogenomics Conference (ECA 2021)

Mjesto i datum
Online, 03.07.2021. - 05.07.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
congenital heart defects, DNA methyltransferase, DNA methylation, Down syndrome, single nucleotide polymorphism

Sažetak
Background: Approximately 50% of people with Down syndrome (DS) have congenital heart defect (CHD), mostly septal defect. Better understanding of the etiology of CHD is fundamental to improve diagnosis, clinical management and counselling. The DNA methylation is proved to be related with CHD, especially during embryogenesis when cardiogenesis occur. DNA methyltransferases (DNMT) genes are essential for maintaining methylation and chromatin stability, as well as the establishment of de novo methylation patterns during gametogenesis and embryogenesis. Aim: The aim of this study was to analyse the single nucleotide polymorphisms of DNMT genes: DNMT1 (rs2228611), DNMT3A (rs1550117) and DNMT3B (rs2424913, rs1569686) in DS participants according to CHD. Method: A total of 190 participants with DS have been enrolled in this study. Genotyping of polymorphisms was performed using a combination of polymerase chain reaction and restriction fragment length polymorphism methods. Statistical significance was considered at P<0.05. Results: CHDs was present in 45% (86/190) of participants. The frequency of alleles and genotypes (single or combinations) of DNMT gene polymorphisms was not significantly different between group with CHD and group without CHD (P0.05). Conclusion: The occurrence of CHD in the study group was in accordance with literature. The investigated polymorphisms of DNMT genes were not associated with the incidence of CHD among DS participants in our study.

Izvorni jezik
Engleski



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


Citiraj ovu publikaciju:

Vraneković, Jadranka; Barišić, Anita; Majstorović, Dijana; Babić Božović, Ivana; Bilić Čače, Iva Brajenović Milić, Bojana
DNA METHYLTRANSFERASE GENES AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME // 13th European Cytogenomics Conference (ECA 2021)
online, 2021. str. 36-37 (poster, nije recenziran, sažetak, znanstveni)
Vraneković, J., Barišić, A., Majstorović, D., Babić Božović, I. & Bilić Čače, Iva Brajenović Milić, Bojana (2021) DNA METHYLTRANSFERASE GENES AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME. U: 13th European Cytogenomics Conference (ECA 2021).
@article{article, author = {Vranekovi\'{c}, Jadranka and Bari\v{s}i\'{c}, Anita and Majstorovi\'{c}, Dijana and Babi\'{c} Bo\v{z}ovi\'{c}, Ivana}, year = {2021}, pages = {36-37}, keywords = {congenital heart defects, DNA methyltransferase, DNA methylation, Down syndrome, single nucleotide polymorphism}, title = {DNA METHYLTRANSFERASE GENES AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME}, keyword = {congenital heart defects, DNA methyltransferase, DNA methylation, Down syndrome, single nucleotide polymorphism}, publisherplace = {online} }
@article{article, author = {Vranekovi\'{c}, Jadranka and Bari\v{s}i\'{c}, Anita and Majstorovi\'{c}, Dijana and Babi\'{c} Bo\v{z}ovi\'{c}, Ivana}, year = {2021}, pages = {36-37}, keywords = {congenital heart defects, DNA methyltransferase, DNA methylation, Down syndrome, single nucleotide polymorphism}, title = {DNA METHYLTRANSFERASE GENES AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME}, keyword = {congenital heart defects, DNA methyltransferase, DNA methylation, Down syndrome, single nucleotide polymorphism}, publisherplace = {online} }




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