The distribution of allelic variants in the folate cycle enzyme genes and the level of homocysteine in patients with congenital heart disease and functional single ventricle

The purpose of the investigation was to analyze the distribution of genotypes and allelic variants of the folate cycle enzyme genes in 102 children with congenital heart disease and functional single ventricle and in 89 healthy children. Wild-type MTHFR 677CC was found in 58 (56.9%) children with heart disease, the MTHFR 677CT heterozygous variant was present in 37 (36.3%), the MTHFR 677TT homozygous variant was in 7 (6.9%). Carriage of wild-type MTHFR 1298AA was observed in 45 (44.1%) patients with heart disease; that of the MTHFR 1298AC heterozygous variant was noted in 53 (52.0%) and the MTHFR 1298CC homozygous variant was seen in 4 (3.9%). MTR A27556G gene polymorphism in children with heart disease was distributed as follows: wild-type (AA) in 58 (56.9%) children; the heterozygous (AG) genotype in 40 (39.2%), and the homozygous (GG) genotype in 4 (3.9%). Examination of MTRR A66G gene polymorphism revealed wide-type 66AA in 19 (18.6%) patients, the heterozygous 66AG genotype in 58 (56.9%), and the homozygous 66GG genotype in 12 (24.5%). The genotype distribution did not differ from that in the healthy children. Regardless of the carriage of folate cycle enzyme gene polymorphisms, the plasma homocysteine level tended to increase in the group of patients with congenital heart disease. The mean homocysteine level was significantly higher in the carriers of the MTHFR genotype TT than in the children carrying the genotype CC: 9.0 and 6.3 umol/1, respectively (p=0.02).

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