№ files_lp_3_process_9_66124
Scientific research article presenting population-based genetic and lipid data from the UK Biobank to examine the prevalence of pathogenic familial hypercholesterolaemia variants and their association with LDL-C concentrations across European, South Asian, and African ancestry groups.
Authors: Jasmine Gratton; Steve E Humphries; Marta Futema
Institutions: Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom; Cardiology Research Centre, Molecular and Clinical Sciences Research Institute, St George’s University of London, London, United Kingdom
Country: United Kingdom
Data source: UK Biobank
Study design: Population-based cohort study
Subject: Prevalence of FH-causing genetic variants and association with LDL-C levels across ancestry groups
Population: European, South Asian, and African ancestry participants
Sample size: 140,439 European; 4,067 South Asian; 3,906 African participants with lipid and whole exome sequencing data
Genes analysed: LDLR; APOB; PCSK9
Methods: Principal component analysis; whole exome sequencing; variant classification using ACMG guidelines
Outcome measures: Prevalence of pathogenic and likely pathogenic FH variants; LDL-C concentration adjusted for statin use; prevalence and incidence of coronary heart disease
Period of data collection: 2006–2010
Ethical approval: Conducted under approved UK Biobank application 40721
Type of document: Scientific research article
Price: 8 / 10 USD
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