MTHFR C677T and A1298C gene polymorphisms and their relation to homocysteine level in Egyptian children with congenital heart diseases.
OBJECTIVE
To investigate the association of combined MTHFR C677T and A1298C gene polymorphisms with congenital heart diseases (CHD) in Egyptian children and their mothers and to determine their effect on homocysteine level in these children.


METHODS
MTHFR C677T and A1298C polymorphisms were genotyped in 160 Egyptian children (80 patients with CHD and 80 healthy controls) and their mothers using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), while, homocysteine (Hcy) level was measured optically by enzymatic method.


RESULTS
We found that MTHFR 677TT genotype, T allele, 1298CC genotype, and C allele were associated with 2.61, 2.0, 2.91 and 1.99 fold increased risk of CHD in Egyptian children respectively. Furthermore, the frequencies of MTHFR 1298AC and CC genotypes and C allele significantly increased in mothers with CHD affected children. The homocysteine levels were significantly increased in MTHFR 677TT and 1298CC genotypes in children with CHD.


CONCLUSIONS
Our study demonstrated an association of MTHFR A1298C polymorphisms with CHD in Egyptian children and their mothers, while, MTHFR C677T polymorphisms were significantly associated with the risk of CHD in the children only. An association between combined MTHFR A1298C and C677T polymorphisms and CHD was recorded in the children and their mothers. Also, homocysteine levels were significantly increased with both MTHFR 677TT and 1298CC genotypes in Egyptian children with CHD.
Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt. Electronic address: haidy_menna@hotmail.com.
Haidy E
HE
Zidan
Noha A
NA
Rezk
Doaa
D
Mohammed
D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006330:Heart Defects, Congenital / Q000097:blood / Q000235:genetics*; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors
D006710:Homocysteine; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
ASD; CHD; Congenital heart diseases; DNA; ECHO; Egyptian children; Hcy; MTHFR; Methylenetetrahydrofolate reductase (MTHFR); PCR–RFLP; PDA; Polymorphism; SNP; VSD; atrial septal defect; congenital heart diseases; deoxyribonucleic acid; echocardiography; homocysteine; methylene tetrahydrofolate reductase; patent ductus arteriosus; polymerase chain reaction–restriction fragment length polymorphism; single nucleotide polymorphism; ventricular septal defect