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A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment


Ellis, KL and Hooper, AJ and Pang, J and Chan, DC and Burnett, JR and Bell, DA and Schultz, CJ and Moses, EK and Watts, GF, A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment, Clinical Genetics, 97, (2) pp. 257-263. ISSN 0009-9163 (2020) [Refereed Article]

Copyright Statement

2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

DOI: doi:10.1111/cge.13648


Familial hypercholesterolaemia (FH) is associated with increased risk of coronary artery disease (CAD); however, risk prediction and stratification remain a challenge. Genetic risk scores (GRS) may have utility in identifying FH patients at high CAD risk. The study included 811 patients attending the lipid disorders clinic at Royal Perth Hospital with mutation-positive (n = 251) and mutation-negative (n = 560) FH. Patients were genotyped for a GRS previously associated with CAD. Associations between the GRS, clinical characteristics, and CAD were assessed using regression analyses. The average age of patients was 49.6 years, and 44.1% were male. The GRS was associated with increased odds of a CAD event in mutation-positive [odds ratio (OR) = 3.3; 95% confidence interval (CI) = 1.3-8.2; P = .009] and mutation-negative FH patients (OR = 1.8; 95% CI = 1.0-3.3; P = .039) after adjusting for established predictors of CAD risk. The GRS was associated with greater subclinical atherosclerosis as assessed by coronary artery calcium score (P = .039). A high GRS was associated with CAD defined clinically and angiographically in FH patients. High GRS patients may benefit from more intensive management including lifestyle modification and aggressive lipid-lowering therapy. Further assessment of the utility of the GRS requires investigation in prospective cohorts, including its role in influencing the management of FH patients in the clinic.

Item Details

Item Type:Refereed Article
Keywords:atherosclerosis, coronary artery disease, familial hypercholesterolaemia, genetic risk score
Research Division:Biomedical and Clinical Sciences
Research Group:Cardiovascular medicine and haematology
Research Field:Cardiology (incl. cardiovascular diseases)
Objective Division:Health
Objective Group:Clinical health
Objective Field:Diagnosis of human diseases and conditions
UTAS Author:Moses, EK (Professor Eric Moses)
ID Code:146996
Year Published:2020
Web of Science® Times Cited:4
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-10-07
Last Modified:2021-11-04

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