PUBLICATION

PDGFRA gene, maternal binge drinking and obstructive heart defects

Authors
Tang, X., Eberhart, J.K., Cleves, M.A., Li, J., Li, M., MacLeod, S., Nembhard, W.N., Hobbs, C.A.
ID
ZDB-PUB-180725-6
Date
2018
Source
Scientific Reports   8: 11083 (Journal)
Registered Authors
Eberhart, Johann
Keywords
none
MeSH Terms
  • Adult
  • Binge Drinking/genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Heart Defects, Congenital/genetics*
  • Humans
  • Polymorphism, Single Nucleotide/genetics
  • Pregnancy
  • Prenatal Exposure Delayed Effects/genetics*
  • Receptor, Platelet-Derived Growth Factor alpha/genetics*
PubMed
30038270 Full text @ Sci. Rep.
Abstract
Obstructive heart defects (OHDs) are a major health concern worldwide. The platelet-derived growth factor (PDGF) genes are known to have regulatory functions that are essential for proper heart development. In a zebrafish model, Pdgfra was further demonstrated to interact with ethanol during craniofacial development. In this article, we investigated interactions between variants in PDGF genes and periconceptional alcohol exposure on the risk of OHDs by applying log-linear models to 806 OHD case and 995 control families enrolled in the National Birth Defects Prevention Study. The interactions between four variants in PDGFA and maternal binge drinking reached a nominal significance level. The maternal T allele of rs869978 was estimated to increase OHD risk among women who binge drink, while infant genotypes of rs2291591, rs2228230, rs1547904, and rs869978 may reduce the risk. Although none of these associations remain statistically significant after multiple testing adjustment and the estimated maternal effect may be influenced by unknown confounding factors, such as maternal smoking, these findings are consistent with previous animal studies supporting potential interactions between the PDGFRA gene and maternal alcohol exposure. Replication studies with larger sample sizes are needed to further elucidate this potential interplay and its influence on OHD risks.
Genes / Markers
Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping