MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome (CROSBI ID 170076)
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Podaci o odgovornosti
Babić Božović, Ivana ; Vraneković, Jadranka ; Starčević Čizmarević, Nada ; Mahulja-Stamenković, Vesna ; Prpić, Igor ; Brajenović-Milić, Bojana
engleski
MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome
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.
congenital heart defect; Down syndrome; MTHFR polymorphisms
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