Impact of genetic information on coronary disease risk in Madeira
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2023 |
| Outros Autores: | , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10362/150161 |
Resumo: | Copyright © 2022 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved. |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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7160 |
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Impact of genetic information on coronary disease risk in MadeiraThe GENEMACOR studyCoronary artery diseaseGenetic risk scoreGenetic variantsReclassificationRisk predictionTraditional risk factors for cardiovascular diseaseCopyright © 2022 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.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<0.0001). LPA rs3798220 showed a higher CAD likelihood (odds ratio 1.45; p<0.0001). Individuals in the fourth mGRS quartile had an increased CAD probability of 136% (p<0.0001). A traditional risk factor-based model estimated an AUC of 0.73, rising to 0.75 after mGRS inclusion (p<0.0001), revealing a better fit. Continuous NRI better reclassified 28.1% of the population, and categorical NRI mainly improved the reclassification of the intermediate risk group. CONCLUSIONS: CAD likelihood was influenced by traditional risk factors and genetic variants. Incorporating GRS into the traditional model improved CAD predictive capacity, discrimination and reclassification. These approaches may provide helpful diagnostic and therapeutic advances, especially in the intermediate risk group.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNMendonça, Maria IsabelPereira, AndreiaMonteiro, JoelSousa, João AdrianoSantos, MarinaTemtem, MargaridaBorges, SofiaHenriques, EvaRodrigues, MarianaSousa, Ana CéliaOrnelas, IlídioFreitas, Ana IsabelBrehm, AntónioDrumond, AntónioPalma Dos Reis, Roberto2023-03-07T22:28:02Z2023-032023-03-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/150161eng0304-4750PURE: 54675553https://doi.org/10.1016/j.repc.2022.01.009info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:32:01Zoai:run.unl.pt:10362/150161Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:53:58.841976Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Impact of genetic information on coronary disease risk in Madeira The GENEMACOR study |
| title |
Impact of genetic information on coronary disease risk in Madeira |
| spellingShingle |
Impact of genetic information on coronary disease risk in Madeira Mendonça, Maria Isabel Coronary artery disease Genetic risk score Genetic variants Reclassification Risk prediction Traditional risk factors for cardiovascular disease |
| title_short |
Impact of genetic information on coronary disease risk in Madeira |
| title_full |
Impact of genetic information on coronary disease risk in Madeira |
| title_fullStr |
Impact of genetic information on coronary disease risk in Madeira |
| title_full_unstemmed |
Impact of genetic information on coronary disease risk in Madeira |
| title_sort |
Impact of genetic information on coronary disease risk in Madeira |
| author |
Mendonça, Maria Isabel |
| author_facet |
Mendonça, Maria Isabel Pereira, Andreia Monteiro, Joel Sousa, João Adriano Santos, Marina Temtem, Margarida Borges, Sofia Henriques, Eva Rodrigues, Mariana Sousa, Ana Célia Ornelas, Ilídio Freitas, Ana Isabel Brehm, António Drumond, António Palma Dos Reis, Roberto |
| author_role |
author |
| author2 |
Pereira, Andreia Monteiro, Joel Sousa, João Adriano Santos, Marina Temtem, Margarida Borges, Sofia Henriques, Eva Rodrigues, Mariana Sousa, Ana Célia Ornelas, Ilídio Freitas, Ana Isabel Brehm, António Drumond, António Palma Dos Reis, Roberto |
| author2_role |
author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) RUN |
| dc.contributor.author.fl_str_mv |
Mendonça, Maria Isabel Pereira, Andreia Monteiro, Joel Sousa, João Adriano Santos, Marina Temtem, Margarida Borges, Sofia Henriques, Eva Rodrigues, Mariana Sousa, Ana Célia Ornelas, Ilídio Freitas, Ana Isabel Brehm, António Drumond, António Palma Dos Reis, Roberto |
| dc.subject.por.fl_str_mv |
Coronary artery disease Genetic risk score Genetic variants Reclassification Risk prediction Traditional risk factors for cardiovascular disease |
| topic |
Coronary artery disease Genetic risk score Genetic variants Reclassification Risk prediction Traditional risk factors for cardiovascular disease |
| description |
Copyright © 2022 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved. |
| publishDate |
2023 |
| dc.date.none.fl_str_mv |
2023-03-07T22:28:02Z 2023-03 2023-03-01T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10362/150161 |
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http://hdl.handle.net/10362/150161 |
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eng |
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eng |
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0304-4750 PURE: 54675553 https://doi.org/10.1016/j.repc.2022.01.009 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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