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Additional value of a combined genetic risk score to standard cardiovascular stratification

dc.contributor.authorPereira, Andreia
dc.contributor.authorMendonca, Maria Isabel
dc.contributor.authorBorges, Sofia
dc.contributor.authorSousa, Ana Célia
dc.contributor.authorFreitas, Sónia
dc.contributor.authorHenriques, Eva
dc.contributor.authorRodrigues, Mariana
dc.contributor.authorFreitas, Ana Isabel
dc.contributor.authorGuerra, Graça
dc.contributor.authorFreitas, Carolina
dc.contributor.authorPereira, Décio
dc.contributor.authorBrehm, António
dc.contributor.authorReis, Roberto Palma dos
dc.date.accessioned2020-11-12T15:38:43Z
dc.date.available2020-11-12T15:38:43Z
dc.date.issued2018
dc.description.abstractThe utility of genetic risk scores (GRS) as independent risk predictors remains inconclusive. Here, we evaluate the additive value of a multi-locus GRS to the Framingham risk score (FRS) in coronary artery disease (CAD) risk prediction. A total of 2888 individuals (1566 coronary patients and 1322 controls) were divided into three subgroups according to FRS. Multiplicative GRS was determined for 32 genetic variants associated to CAD. Logistic Regression and Area Under the Curve (AUC) were determined first, using the TRF for each FRS subgroup, and secondly, adding GRS. Different models (TRF, TRF+GRS) were used to classify the subjects into risk categories for the FRS 10-year predicted risk. The improvement offered by GRS was expressed as Net Reclassification Index and Integrated Discrimination Improvement. Multivariate analysis showed that GRS was an independent predictor for CAD (OR = 1.87; p<0.0001). Diabetes, arterial hypertension, dyslipidemia and smoking status were also independent CAD predictors (p<0.05). GRS added predictive value to TRF across all risk subgroups. NRI showed a significant improvement in all categories. In conclusion, GRS provided a better incremental value in intermediate subgroup. In this subgroup, inclusion of genotyping may be considered to better stratify cardiovascular risk.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPereira, A., Mendonça, M. I., Borges, S., Sousa, A. C., Freitas, S., Henriques, E., ... & Pereira, D. (2018). Additional value of a combined genetic risk score to standard cardiovascular stratification. Genetics and molecular biology, 41(4), 766-774.pt_PT
dc.identifier.doi10.1590/1678-4685-GMB-2017-0173pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/2971
dc.language.isoengpt_PT
dc.publisherSociedade Brasileira de Genéticapt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCoronary artery diseasept_PT
dc.subjectGenetic risk scorept_PT
dc.subjectFramingham scorept_PT
dc.subjectRisk predictionpt_PT
dc.subjectRisk factorspt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências da Vidapt_PT
dc.titleAdditional value of a combined genetic risk score to standard cardiovascular stratificationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceBrasilpt_PT
oaire.citation.endPage774pt_PT
oaire.citation.startPage766pt_PT
oaire.citation.titleGenetics and molecular biologypt_PT
oaire.citation.volume41(4)pt_PT
person.familyNameBrehm
person.familyNamePalma dos Reis
person.givenNameAntonio
person.givenNameRoberto José
person.identifier.ciencia-id3613-8D1F-0EDF
person.identifier.ciencia-idE915-4E29-A5FA
person.identifier.orcid0000-0003-3168-5340
person.identifier.scopus-author-idAuthor ID 7006085833
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication62d279e2-247a-4652-a370-3e8c2a846e31
relation.isAuthorOfPublication5c115130-eb5e-4d69-a0fb-096a1260410a
relation.isAuthorOfPublication.latestForDiscovery62d279e2-247a-4652-a370-3e8c2a846e31

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