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Interactions between PDA-associated polymorphisms and genetic ancestry alter ductus arteriosus gene expression
Ronald I Clyman1, Nancy K Hills2, John M Dagle3
1Department of Pediatrics and Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA. clymanr@peds.ucsf.edu.
Pediatric Research
|April 10, 2021
Summary
Genetic variations in PTGIS and TFAP2B influence patent ductus arteriosus (PDA) risk and ductus arteriosus gene expression, but only in individuals of European ancestry.
Area of Science:
- Genetics
- Developmental Biology
- Cardiovascular Research
Background:
- Patent ductus arteriosus (PDA) is linked to specific DNA polymorphisms in PTGIS and TFAP2B.
- These genetic risk factors were previously observed primarily in European ancestry populations.
Purpose of the Study:
- To investigate whether TFAP2B and PTGIS polymorphisms affect ductus arteriosus (DA) gene expression differently across genetic ancestries.
- To explore the interaction between genetic ancestry and these polymorphisms on DA gene regulation.
Main Methods:
- Genotyping of 273 human fetal DA samples for PTGIS, TFAP2B, and ancestry-informative polymorphisms.
- Quantitative RT-PCR to measure RNA expression of 49 candidate genes involved in DA closure.
Main Results:
- Four TFAP2B polymorphisms (rs2817399, rs987237, rs760900, rs2817416) were consistently associated with altered expression of 9 DA genes (EPAS1, CACNB2, ECE1, KCNA2, ATP2A3, EDNRA, EDNRB, BMP9, BMP10) in DA of European ancestry.
- A PTGIS haplotype (rs493694/rs693649) associated with PTGIS and NOS3 expression was also specific to European ancestry DA.
- No consistent associations were found without considering the interaction between polymorphisms and genetic ancestry.
Conclusions:
- PTGIS and TFAP2B polymorphisms are linked to specific changes in DA gene expression, but this association is contingent upon European genetic ancestry.
- Genetic ancestry plays a crucial role in the functional impact of these PDA-associated polymorphisms on gene expression.
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