Article
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
Nature genetics - 1 Feb 2021
Harper Andrew R, Goel Anuj, Grace Christopher, Thomson Kate L, Petersen Steffen E, Xu Xiao, Waring Adam, Ormondroyd Elizabeth, Kramer Christopher M, Ho Carolyn Y, Neubauer Stefan, Tadros Rafik, Ware James S, Bezzina Connie R, Farrall Martin, Watkins Hugh
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Aged
- Blood Pressure
- Cardiac Myosins
- Cardiomyopathy, Hypertrophic
- Carrier Proteins
- Case-Control Studies
- Formins
- Genetic Predisposition to Disease