Pregled bibliografske jedinice broj: 1260410
Polimorfizmi gena uključenih u metabolizam folata kao rizični čimbenici za razvoj prirođenih srčanih grešaka kod osoba s Down sindromom
Polimorfizmi gena uključenih u metabolizam folata kao rizični čimbenici za razvoj prirođenih srčanih grešaka kod osoba s Down sindromom // Book of Abstracts — 1st Congress of Geneticists in Bosnia and Herzegovina with International Participation / Bajrović, Kasim (ur.).
Sarajevo: Institute for Genetic Engineering and Biotechnology, 2019. str. 14-14 doi:10.31383/ga.vol3iss2pp1-134 (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 1260410 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Polimorfizmi gena uključenih u metabolizam folata kao rizični čimbenici za razvoj prirođenih srčanih grešaka kod osoba s Down sindromom
(Polymorphisms in Folate Pathway Genes as Risk Factors for Congenital Heart Defects in Down Syndrome)
Autori
Vraneković, Jadranka ; Babić Božović, Ivana ; Slivšek, Goran ; Bilić Čače, Iva ; Brajenović, Bojana
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Book of Abstracts — 1st Congress of Geneticists in Bosnia and Herzegovina with International Participation
/ Bajrović, Kasim - Sarajevo : Institute for Genetic Engineering and Biotechnology, 2019, 14-14
Skup
1st Congress of Geneticists in Bosnia and Herzegovina with International Participation
Mjesto i datum
Sarajevo, Bosna i Hercegovina, 02.10.2019. - 04.10.2019
Vrsta sudjelovanja
Pozvano predavanje
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
polimorfizmi, folati, urođene srčane greške, Downov sindrom
(polymorphisms, folate, congenital heart defects, Down syndrome)
Sažetak
Congenital heart defects (CHD) are among the most common abnormalities in 40%–60% of Down Syndrome (DS) cases. Most commonly, these are septal defects, including atrial septal defect, ventricular septal defect, and complete atrioventricular canal. Studies have shown that phenotypic variability in individuals with DS may contribute to various genetic factors. The polymorphisms of genes involved in folate metabolism are the most significant candidate genes for CHD. However, the correlations between genes and CHD could have been more inconsistent in various reports. The study aimed to determine the CHD spectrum among DS and evaluate the effects of polymorphisms of 5-methyltetrahydrofolate homocysteine methyltransferase reductase (rs1801394) and 5, 10-methylenetetrahydrofolate reductase (rs1801133 and rs1801131) genes on CHD in DS. A total of 155 individuals with DS have been enrolled in this study. PCR-RFLP performed genotyping of polymorphisms. Statistical significance was considered at p<0.05. CHDs were present in 50% of participants, and higher frequencies of CHDs were observed among females than males (54% vs 46%, p = 0.077). The atrial septal defect was most common in females and males (32% vs 22%). No significant differences in the distribution and frequencies of investigated polymorphisms were observed according to the presence of CHD (p > 0.05). The occurrence of CHD, particularly in the female gender of DS individuals, aligns with similar studies. The disruption of the folate pathway does not contribute to the incidence of CHD among individuals with DS in this study.
Izvorni jezik
Engleski
Znanstvena područja
Kemija, Biologija, Temeljne medicinske znanosti, Javno zdravstvo i zdravstvena zaštita, Biotehnologija u biomedicini (prirodno područje, biomedicina i zdravstvo, biotehničko područje)
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 u Rijeci