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Article

Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.

Nature genetics - 1 Jan 2026

Kany Shinwan, Rämö Joel T, Hou Cody, Jurgens Sean J, Khurshid Shaan, Nauffal Victor, Cunningham Jonathan W, Lau Emily S, Koyama Satoshi, Ho Jennifer E, Olgin Jeffrey E, Elmariah Sammy, Palotie Aarno, Lindsay Mark E, Ellinor Patrick T, Pirruccello James P

Abstract excerpt

The genetic influences on normal aortic valve function and their impact on aortic stenosis risk are of substantial interest. We used deep learning to measure peak velocity, mean gradient and aortic valve area from magnetic resonance imaging and conducted genome-wide association studies (GWAS) in 59,571 participants in the UK Biobank. Incorporating the aortic valve measurement GWAS with aortic stenosis GWAS using...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41419685
DOI: 10.1038/s41588-025-02397-7
PMCID: PMC12807864

Genes

LDLR
PCSK9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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