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Pregled bibliografske jedinice broj: 505166

MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome


Babić Božović, Ivana; Vraneković, Jadranka; Starčević Čizmarević, Nada; Mahulja-Stamenković, Vesna; Prpić, Igor; Brajenović-Milić, Bojana
MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome // Pediatrics international, 53 (2011), 4; 546-550 doi:10.1111/j.1442-200X.2010.03310.x (međunarodna recenzija, članak, znanstveni)


Naslov
MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome

Autori
Babić Božović, Ivana ; Vraneković, Jadranka ; Starčević Čizmarević, Nada ; Mahulja-Stamenković, Vesna ; Prpić, Igor ; Brajenović-Milić, Bojana

Izvornik
Pediatrics international (1328-8067) 53 (2011), 4; 546-550

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

Ključne riječi
Congenital heart defect; Down syndrome; MTHFR polymorphisms

Sažetak
BACKGROUND: Congenital heart defects (CHDs) are present in most, but not all, Down syndrome (DS) cases. The presence of MTHFR C677T and A1298C polymorphisms has been reported as a risk factor for CHDs in DS. The aims of the present study were to assess (i) the frequency of MTHFR C677T and A1298C polymorphisms in DS individuals in the Croatian population, (ii) the relationship between the two maternal MTHFR polymorphisms and CHD-affected DS children, and (iii) the transmission frequencies of the variant alleles of the two MTHFR polymorphisms in CHD-affected DS cases. METHODS: The study population included 112 DS cases and 221 controls. CHDs were present in 48% of the DS cases (54/112). The mothers of 107 DS individuals were available for the study ; none were periconceptional folic acid users. Allele transmission was analysed in 34 complete parent-offspring triads. RESULTS: The frequencies of the allele, individual, and combined genotypes of MTHFR C677T and A1298C in DS cases were not statistically different compared to the normal healthy Croatian controls. The maternal MTHFR polymorphisms were not found to be a risk factor for DS-related CHDs. The allele transmission of the two MTHFR polymorphisms showed no deviations from random segregation. CONCLUSIONS: Because a great proportion of trisomy 21 cases are lost during pregnancy, both maternal and fetal, not only live-born, MTHFR C677T and A1298C, as well as maternal nutrition and life style during pregnancy, should be analysed to asses the impact on CHDs in DS.

Izvorni jezik
Engleski



POVEZANOST RADA


Projekt / tema
062-0000000-1349 - Prenatalni probir za sindrom Downov (Bojana Brajenović-Milić, )

Ustanove
Medicinski fakultet, Rijeka

Časopis indeksira:


  • Current Contents Connect (CCC)
  • 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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