engleski

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

The presence of MTHFR C677T and A1298C polymorphisms has been reported as a risk factor for congenital heart defects (CHDs) in Down syndrome (DS). The aims of the present study were to assess the frequency of MTHFR C677T and A1298C in DS in the Croatian population, the relationship between the two parental MTHFR polymorphisms and CHD-affected DS children, and the transmission frequencies of the variant alleles of the two MTHFR polymorphisms in CHD-affected DS. The study population included 124 DS cases and 221 controls. CHDs were present in 50% of the DS cases. Out of 124 DS individuals, 118 mothers and 79 fathers were available for the study. Allele transmission was analyzed in 42 complete parent-offspring triads. The frequencies of the allele, individual, and combined genotypes of MTHFR C677T and A1298C in DS were not statistically different compared to the normal healthy controls. The maternal MTHFR polymorphisms were not found to be a risk factor for DS-related CHDs. The MTHFR 677T allele and the 677TT genotype were significantly more frequent in fathers of CHD-affected DS children than in fathers of DS child without CHD (P = 0.037 and P = 0.036, respectively). The allele transmission of the two MTHFR polymorphisms showed no deviations from random segregation.

MTHFR polymorphisms; Down syndromw; CHD

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