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Journal article

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Abstract:

Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic heterogeneity. Moreover, most patients do not carry such variants. We report a genome-wide association study of 2,780 cases and 47,486 controls that identified 12 genome-wide-significant susceptibility loci for HCM. Single-nucleotide polymorphism heritability indicated a strong polygenic influence, especially for sarcomere-negat...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41588-020-00764-0

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
ORCID:
0000-0003-2307-4021
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
ORCID:
0000-0002-8082-7504
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
Expand authors...
Publisher:
Springer Nature Publisher's website
Journal:
Nature Genetics Journal website
Volume:
53
Issue:
2
Pages:
135–142
Publication date:
2021-01-25
Acceptance date:
2020-12-14
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Language:
English
Keywords:
Pubs id:
1110033
Local pid:
pubs:1110033
Deposit date:
2021-01-27

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