학술논문

Impact of genetic information on coronary disease risk in Madeira: The GENEMACOR study
Document Type
article
Source
Revista Portuguesa de Cardiologia, Vol 42, Iss 3, Pp 193-204 (2023)
Subject
Factores de risco tradicionais para a doença cardiovascular
Variantes genéticas
Score de risco genético
Predição do risco
Reclassificação
Doença arterial coronária
Diseases of the circulatory (Cardiovascular) system
RC666-701
Language
English
Portuguese
ISSN
0870-2551
Abstract
Introduction: Coronary artery disease (CAD), characterized by an atherogenic process in the coronary arteries, is one of the leading causes of death in Madeira. The GENEMACOR (GENEs in MAdeira and CORonary Disease) study sought to investigate the main risk factors – environmental and genetic – and estimate whether a genetic risk score (GRS) improves CAD prediction, discrimination and reclassification. Methods: Traditional risk factors and 33 CAD genetic variants were considered in a case–control study with 3139 individuals (1723 patients and 1416 controls). The multivariate analysis assessed the likelihood of CAD. A multiplicative GRS (mGRS) was created, and two models (with and without mGRS) were prepared. Two areas under receiver operating characteristic curve (area under curve (AUC)) were analyzed and compared to discriminate CAD likelihood. Net reclassification improvement (NRI) and integrated discrimination index (IDI) were used to reclassify the population. Results: All traditional risk factors were strong and independent predictors of CAD, with smoking being the most significant (OR 3.25; p