The A1298C Methylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population

Conotruncal heart defects (CTHDS) are a subgroup of congenital heart malformations that are considered to be a folate-sensitive birth defect. It has been hypothesized that polymorphisms in genes that code for key enzymes in the folate pathway may alter enzyme activity, leading to disruptions in fola...

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Bibliographic Details
Published in:Pediatric cardiology 2015-10, Vol.36 (7), p.1470-1475
Main Authors: Koshy, Teena, Venkatesan, Vettriselvi, Perumal, Venkatachalam, Hegde, Sridevi, Paul, Solomon Franklin Durairaj
Format: Article
Language:English
Subjects:
Adolescent
Amino acids
Analysis
Asian Continental Ancestry Group
Cardiac Surgery
Cardiology
Case-Control Studies
Child
Child, Preschool
Congenital heart disease
Disease susceptibility
Enzymes
Ethylenediaminetetraacetic acid
Female
Folic acid
Genes
Genetic aspects
Genetic disorders
Genetic Predisposition to Disease
Heart Defects, Congenital - genetics
Humans
India
Infant
Infant, Newborn
Logistic Models
Male
Medicine
Medicine & Public Health
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Original Article
Physiological aspects
Polymorphism, Single Nucleotide
Risk Factors
Single nucleotide polymorphisms
Vascular Surgery
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Summary:Conotruncal heart defects (CTHDS) are a subgroup of congenital heart malformations that are considered to be a folate-sensitive birth defect. It has been hypothesized that polymorphisms in genes that code for key enzymes in the folate pathway may alter enzyme activity, leading to disruptions in folate metabolism and thus may influence the risk of such heart defects. This study was designed to investigate the association of six selected folate-metabolizing gene polymorphisms with the risk of non-syndromic CTHDs in an Indian population. This was a case–control study involving 96 cases of CTHDs and 100 control samples, ranging in age from birth to 18 years. Genotyping using Sanger sequencing was performed for six single nucleotide polymorphisms of genes involved in folate metabolism. Logistic regression analyses revealed that for the 5,10-methylenetetrahydrofolate ( MTHFR ) A1298C polymorphism, the CC variant homozygote genotype was associated with a significantly increased risk of CTHDs. The results of this study support an association between the inherited MTHFR A1298C genotype and the risk of CTHDs in an Indian population.
ISSN:0172-0643
1432-1971
DOI:10.1007/s00246-015-1188-3