Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.

ABSTRACT: Congenital left-sided lesions (LSLs) are serious, heritable malformations of the heart. However, little is known about the genetic causes of LSLs. This study was undertaken to identify common variants acting through the genotype of the affected individual (i.e. case) or the mother (e.g. via an in utero effect) that influence the risk of LSLs. A genome-wide association study (GWAS) was performed using data from 377 LSL case-parent triads, with follow-up studies in an independent sample of 224 triads and analysis of the combined data. Associations with both the case and maternal genotypes were assessed using log-linear analyses under an additive model. An association between LSLs and the case genotype for one intergenic SNP on chromosome 16 achieved genome-wide significance in the combined d

SUBMITTER: Mitchell LE 

PROVIDER: S-EPMC4326325 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature