Multipopulation Genome-Wide Association Study Identifies Novel Loci for Bicuspid Aortic Valve and Reveals Shared Genetic Architecture With Aortopathies

Bicuspid aortic valve (BAV) is the most common congenital heart defect, affecting 1-2% of the population.1 BAV is associated with high risk of aortic stenosis (AS) and thoracic aortic aneurysm and dissection (TAAD). Despite its prevalence, the pathophysiology and genetic determinants of BAV, along with factors driving variable aortopathy, remain poorly understood. Familial and monogenic BAV studies suggest heritability up to 90% with autosomal dominant inheritance, variable expressivity, and incomplete penetrance.1 However, complex inheritance and genetic heterogeneity have limited the identification of causal BAV genes, leaving much of its genetic basis unclear...

Authors

Institutions

Publication Details

Journal
Circulation Genomic and Precision Medicine
Published
2025-11-08
DOI
https://doi.org/10.1161/circgen.125.005491
Primary Topic
Aortic Disease and Treatment Approaches
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Multipopulation Genome-Wide Association Study Identifies Novel Loci for Bicuspid Aortic Valve and Reveals Shared Genetic Architecture With Aortopathies

Kyong‐Mi Chang, Julie Ann Lynch, Aeron Small, Francisca Bermudez et al.
Circulation Genomic and Precision Medicine
Aortic Disease and Treatment Approaches
article

Multipopulation Genome-Wide Association Study Identifies Novel Loci for Bicuspid Aortic Valve and Reveals Shared Genetic Architecture With Aortopathies

Kyong‐Mi Chang, Julie Ann Lynch, Aeron Small, Francisca Bermudez, Saiju Pyarajan, Philip S. Tsao, Michael G. Levin, Daniel Dochtermann, Patrick R. Alba, Scott M. Damrauer, Gabrielle E. Shakt, Tia DiNatale, Annie C. Bowles
article en

Abstract

Bicuspid aortic valve (BAV) is the most common congenital heart defect, affecting 1-2% of the population.1 BAV is associated with high risk of aortic stenosis (AS) and thoracic aortic aneurysm and dissection (TAAD). Despite its prevalence, the pathophysiology and genetic determinants of BAV, along with factors driving variable aortopathy, remain poorly understood. Familial and monogenic BAV studies suggest heritability up to 90% with autosomal dominant inheritance, variable expressivity, and incomplete penetrance.1 However, complex inheritance and genetic heterogeneity have limited the identification of causal BAV genes, leaving much of its genetic basis unclear...

Circulation Genomic and Precision MedicineVol. 19(1)
Brigham and Women's Hospital (US), Georgetown University (US), VA Palo Alto Health Care System (US), Cardiovascular Institute of the South (US), VA Boston Healthcare System (US), Palo Alto Veterans Institute for Research (US), VA Salt Lake City Healthcare System (US), Philadelphia VA Medical Center (US), University of Pennsylvania (US), Philadelphia University (US)
Openalex Percentile: Top 52%
Aortic Disease and Treatment Approaches
DOISourceOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.