Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects.

ABSTRACT:

Background

Genetic variation in the folate metabolic pathway may influence the risk of congenital heart defects. This study was undertaken to assess the associations between the inherited and maternal genotypes for variants in folate-related genes and the risk of a composite heart phenotype that included two component phenotypes: conotruncal heart defects (CTDs) and left-sided cardiac lesions (LSLs).

Methods

Nine folate-related gene variants were evaluated using data from 692 case-parent triads (CTD, n = 419; LSL, n = 273). Log-linear analyses were used to test for heterogeneity of the genotype-phenotype association across the two component phenotypes (i.e., CTD and LSLs) and, when there was no evidence of heterogeneity, to assess the associations of the maternal and inherit

SUBMITTER: Long J 

PROVIDER: S-EPMC3257803 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature