Article
A Functional Aryl Hydrocarbon Receptor Genetic Variant, Alone and in Combination with Parental Exposure, is a Risk Factor for Congenital Heart Disease.
Cardiovascular toxicology - 1 Jun 2018
Pulignani Silvia, Borghini Andrea, Vecoli Cecilia, Foffa Ilenia, Ait-Ali Lamia, Andreassi Maria Grazia
Abstract excerpt
Recent experimental studies showed that ablation of the aryl hydrocarbon receptor (AhR) as well as its activation by exogenous ligands disrupt the molecular networks involved in heart formation and function, leading to congenital heart disease (CHD). However, no evidence is available about the role of AhR in humans. We assessed the prevalence of a functional AhR genetic variant (p.Arg554Lys) in CHD patients as...
Topics
- Adolescent
- Adult
- Basic Helix-Loop-Helix Transcription Factors
- Case-Control Studies
- Child
- Child, Preschool
- Female
- Gene Frequency
- Gene-Environment Interaction
- Genetic Association Studies