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

2018Journal article Open access
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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.authorPalma dos Reis, Roberto
dc.date.accessioned2019-02-21T11:23:28Z
dc.date.available2019-02-21T11:23:28Z
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., Mendonca, 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/10400.26/27896
dc.language.isoengpt_PT
dc.publisherSociedade Brasileira de Genéticapt_PT
dc.subjectCoronary artery diseasept_PT
dc.subjectgenetic risk scorept_PT
dc.subjectFramingham scorept_PT
dc.subjectrisk predictionpt_PT
dc.subjectrisk factorspt_PT
dc.subjectPortugalpt_PT
dc.subjectMadeira Islandpt_PT
dc.titleAdditional value of a combined genetic risk score to standard cardiovascular stratificationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage774pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage766pt_PT
oaire.citation.volume41pt_PT
person.familyNamepereira
person.familyNameMendonca
person.familyNameBorges
person.familyNameSousa
person.familyNameFreitas
person.familyNameHenriques
person.familyNameRodrigues
person.familyNameReis
person.givenNameandreia
person.givenNameMaria Isabel
person.givenNameSofia
person.givenNameAna Célia
person.givenNameSónia
person.givenNameEva
person.givenNameMariana Rodrigues
person.givenNameRoberto
person.identifier.orcid0000-0001-5129-2478
person.identifier.orcid0000-0001-5450-5213
person.identifier.orcid0000-0002-9413-7942
person.identifier.orcid0000-0002-2069-0278
person.identifier.orcid0000-0001-5204-8928
person.identifier.orcid0000-0002-7312-5272
person.identifier.orcid0000-0001-7280-0021
person.identifier.orcid0000-0003-2803-8193
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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SESARAM - C - Unidade de Investigação Dr.ª Maria Isabel Mendonça