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Updated: Feb 7, 2026

Determining the Role of Maternally-Expressed Genes in Early Development with Maternal Crispants
Published on: December 21, 2021
PDGFRA gene, maternal binge drinking and obstructive heart defects.
Xinyu Tang1, Johann K Eberhart2, Mario A Cleves1
1Biostatistics Program, University of Arkansas for Medical Sciences, Arkansas Children's Research Institute, Little Rock, 72202, USA.
This study explored how variations in Platelet-Derived Growth Factor (PDGF) genes interact with maternal alcohol consumption to influence the risk of Obstructive Heart Defects (OHDs). Findings suggest a potential link, warranting further investigation.
Area of Science:
- Cardiovascular Genetics
- Developmental Biology
- Environmental Health
Background:
- Obstructive heart defects (OHDs) represent a significant global health burden.
- Platelet-derived growth factor (PDGF) genes are crucial for normal heart development.
- Previous research in zebrafish suggests Pdgfra interacts with ethanol during craniofacial development.
Purpose of the Study:
- To investigate potential interactions between genetic variants in PDGF genes and periconceptional alcohol exposure on OHD risk.
- To examine the influence of maternal binge drinking and specific PDGF gene variants on OHD susceptibility.
Main Methods:
- Log-linear models were applied to family data from the National Birth Defects Prevention Study.
- Analysis included 806 OHD cases and 995 control families.
- Specific variants in PDGFA and maternal periconceptional alcohol use (binge drinking) were assessed.
Main Results:
- Nominal significance was observed for interactions between four PDGFA variants and maternal binge drinking.
- A maternal T allele (rs869978) showed a potential increase in OHD risk with binge drinking.
- Infant genotypes (rs2291591, rs2228230, rs1547904, rs869978) suggested a potential risk reduction.
Conclusions:
- Findings align with animal studies indicating a possible interplay between PDGFRA gene and maternal alcohol exposure.
- No associations remained statistically significant after multiple testing adjustments.
- Replication studies with larger sample sizes are recommended to confirm these potential interactions and their impact on OHD risk.
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