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Genetic polymorphisms and coronary artery disease in the portuguese population: the GENEMACOR Study

2017Conference object Open access
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dc.contributor.authorPereira MD PHDs, A
dc.contributor.authorMendonca, M
dc.contributor.authorNeto, M
dc.contributor.authorRodrigues, R
dc.contributor.authorMonteiro, Joel
dc.contributor.authorSousa, A C
dc.contributor.authorRodrigues, M
dc.contributor.authorGuerra, G
dc.contributor.authorBorges, S
dc.contributor.authorPalma dos Reis, R
dc.date.accessioned2020-03-02T11:47:17Z
dc.date.available2020-03-02T11:47:17Z
dc.date.issued2017
dc.descriptionPosterpt_PT
dc.description.abstractMultiple studies have showed an association between genetic polymorphisms and the risk of coronary artery disease (CAD). Initially, studies focused mainly in variants acting in pathophysiological axis of CAD or its risk factors. Genome-Wide Association Studies (GWAS) revealed other genes that, besides having an unknown mechanism, are statistically significant. The importance of these in the development of CAD in the Portuguese population is unknown. Objective: Analyze the genetic polymorphisms associated with the development of CAD in a Portuguese population. Methods: We performed a case-control study with 1321 consecutive coronary patients (mean age 53.4 ± 8.1 years, 78.8% male) and 1148 controls (adjusted for age and sex) selected from GENEMACOR Study, an ongoing study designed to analyze the genetic profile of a Portuguese population. We evaluated, in both groups, 29 genetic variants previously associated with CAD: ACE I/D, AGT235 M/T, ATIR A/C, MTHFR C/T and 1298 A/C, PON192 Q/R and 55 L/M,LPA T/C, APO E, Locus 9p21.3 (rs1333049), CDKN2B (rs4977574), GJA4 C/T, PCSK9 A/G, TAS2R50 A/G, KIF6 C/T, IGF2BP2 G/T, ADAMTS7 A/G, MC4R T/C, PPARG Pro12 Ala, ZNF259 C/G, SMAD3 C/T, MIA3 C/A, MTHFD1L A/G, SLC30A8 C/T, TCF7L2 C/T, HNF4 C/G, FTO A/C and ADIPOQ C/G. Allele and genotypic frequencies of individuals with and without CAD were compared and the strength of association was expressed by the OR as well as by CI 95%. Results: The variants rs4340 (ACE I/D), rs266729 (ADIPOQ C/G), rs458560 (PON55 L/M), rs429358 (APOE2), LPA T/C, rs1333049 (locus 9p21.3) and rs4977574 (CDKN2B A/G) were significantly associated with CAD (p<0.05) (Table). Conclusions: In our population, the genetic polymorphisms significantly related to CAD were: ACE, associated with hypertension; ADIPOQ, associated with obesity; PON55, associated with oxidation; APOE and LPA, associated with dyslipidemia and finally the locus 9p21.3 with a unclear mechanism so far.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEuropean Journal of Preventive Cardiology ( April 2017 ) 24 ( Supplement 1 ), 144pt_PT
dc.identifier.doi10.1177/2047487317703552pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.26/31545
dc.language.isoengpt_PT
dc.subjectgenetic polymorphismspt_PT
dc.subjectpolimorfismos genéticospt_PT
dc.subjectcoronary artery diseasept_PT
dc.subjectdoença coronáriapt_PT
dc.subjectGENEMACOR studypt_PT
dc.subjectMadeirapt_PT
dc.subjectPortugalpt_PT
dc.titleGenetic polymorphisms and coronary artery disease in the portuguese population: the GENEMACOR Studypt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.endPageS148pt_PT
oaire.citation.issue1_supplpt_PT
oaire.citation.startPageS140pt_PT
oaire.citation.titleEuropean Journal of Preventive Cardiologypt_PT
oaire.citation.volume24pt_PT
person.familyNamepereira
person.familyNameMendonca
person.familyNameRodrigues
person.familyNameSousa
person.familyNameRodrigues
person.familyNameBorges
person.familyNameReis
person.givenNameandreia
person.givenNameMaria Isabel
person.givenNameRicardo C.
person.givenNameAna Célia
person.givenNameMariana Rodrigues
person.givenNameSofia
person.givenNameRoberto
person.identifier.orcid0000-0001-5129-2478
person.identifier.orcid0000-0001-5450-5213
person.identifier.orcid0000-0002-5115-6991
person.identifier.orcid0000-0002-2069-0278
person.identifier.orcid0000-0001-7280-0021
person.identifier.orcid0000-0002-9413-7942
person.identifier.orcid0000-0003-2803-8193
person.identifier.scopus-author-id57189234203
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
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