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A Re-evaluation of the South Asian MYBPC3Δ25 Intronic Deletion in Hypertrophic Cardiomyopathy

Abstract:

Background - The common intronic deletion, MYBPC3Δ25, detected in 4-8% of South Asian populations, is reported to be associated with cardiomyopathy, with ~7-fold increased risk of disease in variant carriers. Here we examine the contribution of MYBPC3Δ25 to hypertrophic cardiomyopathy (HCM) in a large patient cohort.
Methods - Sequence data from two HCM cohorts (n=5,393) was analysed to determine MYBPC3Δ25 frequency and co-occurrence of pathogen... Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1161/CIRCGEN.119.002783

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
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Publisher:
American Heart Association Publisher's website
Journal:
Circulation: Genomic and Precision Medicine Journal website
Publication date:
2020-03-12
Acceptance date:
2020-03-12
DOI:
EISSN:
2574-8300
Language:
English
Keywords:
Pubs id:
1093397
Local pid:
pubs:1093397
Deposit date:
2020-03-13

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