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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

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Related Experiment Video

Updated: Feb 7, 2026

Genome-wide Analysis using ChIP to Identify Isoform-specific Gene Targets

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Published on: July 7, 2010

Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in

Sébastien Thériault¹, Jacob A Holdcraft², Dinara Sharipova³

¹Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval (S.T., F.D., Z.L., H.D.M., P.P., Y.B., P.M.).

|February 6, 2026

Summary

This study identified 36 genomic loci associated with bicuspid aortic valve (BAV), a congenital heart defect. A polygenic risk score effectively predicted BAV and related cardiovascular conditions, highlighting a significant polygenic contribution.

Keywords:

RNA sequencing bicuspid aortic valve genome-wide association study polygenic risk score zebrafish

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Area of Science:

Genetics
Cardiovascular Biology
Developmental Biology

Background:

Bicuspid aortic valve (BAV) is a common congenital heart defect with high heritability.
Genetic factors underlying BAV are not fully understood, with limited genes identified and unexplained molecular mechanisms.
This research aimed to elucidate the genetic architecture of BAV.

Purpose of the Study:

To identify novel genetic loci associated with BAV.
To understand the molecular mechanisms contributing to BAV development.
To develop and validate a polygenic risk score for BAV and related phenotypes.

Main Methods:

Conducted a genome-wide association study meta-analysis of 65,677 participants (9,631 cases).
Prioritized candidate genes using transcriptomic analysis of human aortic valves and cardiac tissues.
Validated gene function in zebrafish and developed a polygenic risk score evaluated in independent cohorts and UK Biobank.

Main Results:

Identified 36 genomic loci, including 32 novel loci for BAV.
KANK2, ERBB4, PRDM6, and STRN were prioritized as potentially causal genes.
The polygenic risk score strongly associated with BAV (OR=2.07) and related conditions like thoracic aortic aneurysm and atrial fibrillation.

Conclusions:

BAV has a significant polygenic component involving common variants in heart morphogenesis genes.
Disruption of aortic valve development results from the combined effect of these variants.
The findings provide insights into the genetic basis of BAV and its clinical associations.