title: The association between c.1333C > T genetic polymorphism of MTHFR gene and the risk of congenital heart diseases.
abstract: This study aims to evaluate the influence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms on congenital heart diseases (CHD) risk. The frequencies of allelic and genotypic in CHD patients were significantly different from non-CHD controls. Our data suggested that the c.1333C > T genetic polymorphism of MTHFR gene was statistically associated with the increased risk of CHD [TT versus CC: odds ratio (OR) = 2.70, 95% confidence interval (CI) 1.34-5.45, p = 0.005; T versus C: OR = 1.38, 95% CI 1.03-1.86, p = 0.032]. Our findings indicate that the c.1333C > T genetic polymorphism influences CHD risk in the studied population.
authors.affiliation: Department of Cardiology, Xijing Hospital, Fourth Military Medical University , Xi'an, Shanxi Province , People's Republic of China and.
authors.forename: Qiguang
authors.initials: Q
authors.lastname: Wang
authors.forename: Xianyang
authors.initials: X
authors.lastname: Zhu
authors.forename: Bei
authors.initials: B
authors.lastname: Lv
authors.forename: Xia
authors.initials: X
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
mesh_terms: D016022:Case-Control Studies; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)