Prevalence of Fabry disease-causing variants in the UK Biobank.

Mark GilchristFrancesco CasanovaJessica Tyrrell Stuart CannonAndrew R WoodNicole FifeKatherine G YoungRichard A OramMichael N Weedon

Published in: Journal of medical genetics (2022)

variants are more prevalent in an unselected population sample than the reported prevalence of Fabry disease. These are overwhelmingly variants associated with later onset. It is possible the prevalence of later-onset Fabry disease exceeds current estimates.

Keyphrases

risk factors
copy number
replacement therapy
hypertrophic cardiomyopathy
gene expression
dna methylation
smoking cessation