Heart failure & cardiomyopathiesCase-control study
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy
- Case-control genetic association study
- prospective
- ancestry-matched controls
Authors' conclusion
Studying consanguineous populations reveals novel insights with relevance to genetic testing and our understanding of the genetic architecture of HCM.
Study context
- Population
- Hypertrophic cardiomyopathy (HCM) patients in North African cohorts with high consanguinity
- Participants
- 514 / 684 / 400
- Comparison
- Egyptian HCM patients vs European-ancestry HCM cohort
- Egyptiann = 514
- Europeann = 684reference
- Controlsn = 400
- Outcome
- Genetic architecture of HCM: rare variants in 13 validated HCM genes
Main finding
As reported in the abstract
Homozygous variants
P = 2 × 10-7
Observational data: associations, not effects.
Further findings
Biallelic TRIM63 variants (recessive HCM gene)
- Biallelic TRIM63 variants detected in 2.1% of patients, five-fold greater than European patients
Proportion of rare variants classified (likely) pathogenic after incorporating ancestry-matched controls
- Proportion increased after incorporating ancestry-matched controls
- 53.3%
Original publication
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy. Eur Heart J. Published 11 July 2023. doi:10.1093/eurheartj/ehad372
Summarised from the published abstract; every number is checked against it