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Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease

2011Artigo científico Acesso aberto
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dc.contributor.authorMendonça, M.I.
dc.contributor.authorPalma dos Reis, Roberto
dc.contributor.authorPereira, A.
dc.contributor.authorCafé, H.
dc.contributor.authorSerráo, M.
dc.contributor.authorSousa, A.C.
dc.contributor.authorFreitas, A.I.
dc.contributor.authorGuerra, G.
dc.contributor.authorFreitas, S.
dc.contributor.authorFreitas, C.
dc.contributor.authorOrnelas, I.
dc.contributor.authorBrehm, A.
dc.contributor.authorAraújo, J.J.
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblSociedade Portuguesa de Cardiologia | Elsevier
dc.date.accessioned2023-01-18T22:09:34Z
dc.date.available2023-01-18T22:09:34Z
dc.date.issued2011
dc.descriptionFunding: This study was supported by the European Regional Development Fund’s Operational Programme for the Enhancement of Economic Potential and Territorial Cohesion for the Autonomous Region of Madeira (INTERVIR+).
dc.description.abstractIntroduction: Recent genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at the 9p21 locus as risk factors for coronary artery disease (CAD). Among them, the SNP rs1333049 has demonstrated a consistent association with CAD, which has been successfully replicated in several populations. Aim: To investigate whether the SNP rsl333049 located on the 9p21 chromosome is an independent risk factor for CAD in a Portuguese population. Methods: We performed a case-control study which included 1406 individuals, 723 consecutive coronary patients (mean age 53.7±8.9 years, 79.9% male) and 683 controls without coronary disease (mean age 53.3±10.5 years, 73.9% male). Cases and controls were selected so as not to be significantly different in terms of gender and age. We studied the SNP rs1333049 at the 9p21 locus in all individuals, using standard PCR combined with the TaqMan technique (Applied Biosystems). The allelic and genotype distribution (C/G), odds ratios and corresponding confidence intervals for CAD risk were determined. A forward Wald logistic regression analysis model was constructed, adjusted for age, gender, conventional risk factors, biochemical markers and the genotypes under study, in order to determine which variables were linked significantly and independently with CAD. Results: The C allele was found in 60% of the CAD patients and 53% of the controls, with OR=1.33; p=0.0002. The CC genotype appeared in 35.7% of CAD patients, with OR=1.34, p=0.010. The heterozygous CG genotype was present in 48.1% of the CAD patients and 47% of the controls, and did not present vascular risk (OR=1.05, p=0.670). After logistic regression analysis, the CC genotype remained in the equation with 0R=1.7; p=0.018 and CG with OR=I.5, p=0.048. Conclusion: In the present study we replicated the coronary risk linked to the recently discovered variant rs1333049 on the 9p21 chromosome in a Portuguese population. Although the mechanism underlying the risk is still unknown, the robustness of this risk allele in risk stratification for CAD has been consistent, even in very different populations. The presence of the CC or CG genotype may thus prove to be useful for predicting the risk of developing CAD in the Portuguese population.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent17
dc.format.extent126608
dc.identifier.issn0870-2551
dc.identifier.otherPURE: 3166491
dc.identifier.otherPURE UUID: 00c395fa-92b5-4c09-9ef0-cb9e1a345218
dc.identifier.otherRIS: urn:71830AC2296ECAD16A53C18EA029B6A9
dc.identifier.otherScopus: 80051757129
dc.identifier.otherPubMed: 21874923
dc.identifier.otherWOS: 000311923100001
dc.identifier.urihttp://hdl.handle.net/10362/147771
dc.identifier.urlhttps://spc.pt/2021/03/03/junho-2011-vol-30-no6/
dc.identifier.urlhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-80051757129&partnerID=40&md5=d4c1b4845170623b7f9112f2f7675f24
dc.language.isoeng
dc.peerreviewedyes
dc.subjectCoronary artery disease
dc.subjectGenetic polymorphisms
dc.subjectLocus 9p21
dc.subjectRisk factors
dc.subjectbiological marker
dc.subjectadult
dc.subjectaged
dc.subjectallele
dc.subjectarticle
dc.subjectchromosome 9p
dc.subjectconfidence interval
dc.subjectcontrolled study
dc.subjectcoronary artery disease
dc.subjectcoronary risk
dc.subjectfemale
dc.subjectgene locus
dc.subjectgenetic analysis
dc.subjectgenetic association
dc.subjectgenetic variability
dc.subjectgenotype
dc.subjecthuman
dc.subjectlogistic regression analysis
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectnucleotide sequence
dc.subjectpolymerase chain reaction
dc.subjectPortugal
dc.subjectrisk factor
dc.subjectsingle nucleotide polymorphism
dc.subjectCase-Control Studies
dc.subjectChromosomes, Human, Pair 9
dc.subjectCoronary Disease
dc.subjectFemale
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectPolymorphism, Single Nucleotide
dc.subjectSDG 3 - Good Health and Well-being
dc.titleIndependent association of the variant rs1333049 at the 9p21 locus and coronary heart diseaseen
dc.title.subtitleAssociação independente da variante rs1333049, no locus 9p21, com a doença coronária, numa população portuguesaen
dc.typejournal article
degois.publication.firstPage575
degois.publication.issue6
degois.publication.lastPage591
degois.publication.titleRevista Portuguesa de Cardiologia
degois.publication.volume30
dspace.entity.typePublication
rcaap.rightsopenAccess

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