Association of SNPs in genes involved in folate metabolism with the risk of congenital heart disease

Abstract

The CT genotype of NFE2L2-ins1 + C11108T and the TT genotype of GST01-C428T are susceptible factors for CHD. The AG, GG and (AG + GG) genotypes of DHFR-c594 + 59del19 are protective genotypes for CHD. Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR-A2756G) may increase the risk of CHD.

Genetic Study of 12 SNPs involved in 11 Folate Metabolism Genes and Neural Tube Defects in Suzhou Children

“…This makes 5-formyl tetrahydrofolate cofactor transport 2-fold lower than the wildtype, because the arginine (CGG) at residue 27 could be critical for targeting and integrating protein to the plasma membrane. Many studies showed that women carrying the GA and AA genotypes had higher RBC folate concentrations relative to women carrying the RFC1-80GG genotype, and this was an independent risk factor for their children with CHD [16]. However, our results did not support the above conclusion.…”

“…We modified SNaPShot protocol [16] and confirmed it using Sanger sequencing established in our laboratory. The primers (with patents) were synthesized by the Genearray Company in China.…”

“…CBS-C699T had two genotypes of wild-type (-/ -) and heterozygous mutations (-/ +). We tested that the genotype frequencies of the 12 SNPs were coincidental with HardyWeinberg genetic equilibrium [16]. The TT homozygous genotype frequency of TYMS-1494del6 was 25.0% in the NTD group, significantly lower than 47.3% in the control group.…”

The Association of the MTHFR c.1625A>C Genetic Variant with the Risk of Congenital Heart Diseases in the Chinese

“…It is a major cause of childhood morbidity and mortality worldwide (Hoffman and Kaplan, 2002;Marelli et al, 2007;Gong et al, 2012;Mamasoula et al, 2013;Wang et al, 2013;Wang et al, 2014;Zhang et al, 2014). It is generally accepted that genetic factors are considered to play important influences on the treatment effectiveness of CHD and the prognosis of patients.…”

“…However, the exact etiology of CHD still remains poorly understood. Recently, several studies have indicated that the methylenetetrahydrofolate reductase (MTHFR) gene is an important candidate gene for influencing the prognosis of patients and the risk of CHD (Chambers et al, 2000;Junker et al, 2001;Klerk et al, 2002;Lee et al, 2005;Pereira et al, 2005;Hobbs et al, 2006;Zhu et al, 2006;van Beynum et al, 2007;Brandalize et al, 2009;Garcia-Fragoso et al, 2010;Nie et al, 2011;Gong et al, 2012;Sanchez-Urbina et al, 2012;Yin et al, 2012;Balderrabano-Saucedo et al, 2013;Mamasoula et al, 2013;Mehlig et al, 2013;Wang et al, 2013;Zidan et al, 2013;Wang et al, 2014;Zhang et al, 2014). MTHFR genetic variants, such as C677T and A1298C, have been reported and identified with respect to their genetic influences on the risk of CHD in different populations (Chambers et al, 2000;Junker et al, 2001;Klerk et al, 2002;Nie et al, 2011;Wang et al, 2013;Zidan et al, 2013).…”