Association of the C677T methylenetetrahydrofolate reductase mutation with congenital heart diseases
Journal
Acta Obstetricia et Gynecologica Scandinavica
Journal Volume
84
Journal Issue
12
Pages
1134-1140
Date Issued
2005
Author(s)
Abstract
Background. To investigate whether the cytosine-to-thymine mutation at base 677 of the gene for methylenetetrahydrofolate reductase (MTHFR) is associated with congenital heart diseases (CHD), using high throughput heteroduplex analysis based upon the powerful technique of denaturing high-performance liquid chromatography. Methods. We investigated the MTHFR genotype of a cytosine-to-thymine mutation at base 677 for 213 patients of CHDs as confirmed by cardiac catheterization and also for 195 healthy controls. Results. The overall genotype frequencies of the MTHFR C677T polymorphism were not significantly different between the CHD patients and the healthy control (P = 0.345). Furthermore, taking various subgroups of CHD patients into consideration, we noted a significantly increased proportion of homozygous TT genotypes for patients suffering from valvular pulmonary stenosis (PS) or pulmonary atresia with an intact ventricular septum (PA + IVS) (p = 0.0005). For patients revealing heterotaxy syndrome, a conotruncal anomaly including tetralogy of Fallot, an interruption of the aortic arch, persistent truncus arteriosus, and aortopulmonary window, no statistically significant difference existed. Conclusions. The discrepancy in the distribution of MTHFR genotypes amongst various subtypes of CHD reflects some heterogeneity in the developmental mechanism of CHD. The increased percentage of homozygous TT genotypes might contribute to the pathogenesis of valvular PS and PA + IVS. ? Acta Obstet Gynecol Scand 2005.
SDGs
Other Subjects
5,10 methylenetetrahydrofolate reductase (FADH2); cytosine; thymine; aortopulmonary septal defect; article; congenital heart disease; controlled study; DNA polymorphism; Fallot tetralogy; gene frequency; gene mutation; genetic association; genotype; heart catheterization; heterotaxy syndrome; high performance liquid chromatography; high throughput screening; homozygosity; human; lung atresia; major clinical study; priority journal; pulmonary valve stenosis; Asian Continental Ancestry Group; Case-Control Studies; Child; Chromatography, High Pressure Liquid; DNA Primers; Fetal Blood; Gene Frequency; Genetic Predisposition to Disease; Genotype; Heart Defects, Congenital; Humans; Infant, Newborn; Methylenetetrahydrofolate Reductase (NADPH2); Point Mutation; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Taiwan
Type
journal article