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

Ellis, KL, Hooper, AJ, Pang, J, Chan, DC, Burnett, JR, Bell, DA, Schultz, CJ, Moses, EK ORCID: 0000-0001-7781-4465 and Watts, GF 2020 , 'A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment' , Clinical Genetics, vol. 97, no. 2 , pp. 257-263 , doi: 10.1111/cge.13648.

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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 Type: Article
Authors/Creators: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
Keywords: atherosclerosis, coronary artery disease, familial hypercholesterolaemia, genetic risk score
Journal or Publication Title: Clinical Genetics
Publisher: Blackwell Munksgaard
ISSN: 0009-9163
DOI / ID Number: 10.1111/cge.13648
Copyright Information:

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

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