Impact of genetic information on coronary disease risk in Madeira: The GENEMACOR study

• DOI: 10.1016/j.repc.2022.01.009
• Publication Date: 2022-10-17T17:32:59Z
• Authors: Maria Isabel Mend...; Andreia Pereira; Joel Monteiro; João Adriano Sousa; Marina Santos; Margarida Temtem; Sofia Borges; Eva Henriques; Mariana Rodrigues; Ana Célia Sousa; Ilídio Ornelas; Ana Isabel Freitas; António Brehm; António Drumond; Roberto Palma dos...
• Keywords: Quartile; genetic model

Coronary artery disease (CAD), characterized by an atherogenic process in the coronary arteries, is one of leading causes death Madeira. The GENEMACOR (GENEs MAdeira and CORonary Disease) study sought to investigate main risk factors - environmental genetic estimate whether a score (GRS) improves CAD prediction, discrimination reclassification.Traditional 33 variants were considered case-control with 3139 individuals (1723 patients 1416 controls). multivariate analysis assessed likelihood CAD. A multiplicative GRS (mGRS) was created, two models (with without mGRS) prepared. Two areas under receiver operating characteristic curve (area (AUC)) analyzed compared discriminate likelihood. Net reclassification improvement (NRI) integrated index (IDI) used reclassify population.All traditional strong independent predictors CAD, smoking being most significant (OR 3.25; p<0.0001). LPA rs3798220 showed higher (odds ratio 1.45; Individuals fourth mGRS quartile had increased probability 136% (p<0.0001). factor-based model estimated AUC 0.73, rising 0.75 after inclusion (p<0.0001), revealing better fit. Continuous NRI reclassified 28.1% population, categorical mainly improved intermediate group.CAD influenced variants. Incorporating into predictive capacity, reclassification. These approaches may provide helpful diagnostic therapeutic advances, especially group.