Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2011 |
| 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/10362/147771 |
Resumo: | Funding: 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+). |
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Independent association of the variant rs1333049 at the 9p21 locus and coronary heart diseaseAssociação independente da variante rs1333049, no locus 9p21, com a doença coronária, numa população portuguesaCoronary artery diseaseGenetic polymorphismsLocus 9p21Risk factorsbiological markeradultagedallelearticlechromosome 9pconfidence intervalcontrolled studycoronary artery diseasecoronary riskfemalegene locusgenetic analysisgenetic associationgenetic variabilitygenotypehumanlogistic regression analysismajor clinical studymalenucleotide sequencepolymerase chain reactionPortugalrisk factorsingle nucleotide polymorphismCase-Control StudiesChromosomes, Human, Pair 9Coronary DiseaseFemaleHumansMaleMiddle AgedPolymorphism, Single NucleotideSDG 3 - Good Health and Well-beingFunding: 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+).Introduction: 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.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNMendonça, M.I.Dos Reis, R.P.Pereira, A.Café, H.Serráo, M.Sousa, A.C.Freitas, A.I.Guerra, G.Freitas, S.Freitas, C.Ornelas, I.Brehm, A.Araújo, J.J.2023-01-18T22:09:34Z20112011-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article17application/pdfhttp://hdl.handle.net/10362/147771eng0870-2551PURE: 3166491info: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:RCAAP2024-03-11T05:29:00Zoai:run.unl.pt:10362/147771Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:53:04.355448Repositório 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 |
Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease Associação independente da variante rs1333049, no locus 9p21, com a doença coronária, numa população portuguesa |
| title |
Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease |
| spellingShingle |
Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease Mendonça, M.I. Coronary artery disease Genetic polymorphisms Locus 9p21 Risk factors biological marker adult aged allele article chromosome 9p confidence interval controlled study coronary artery disease coronary risk female gene locus genetic analysis genetic association genetic variability genotype human logistic regression analysis major clinical study male nucleotide sequence polymerase chain reaction Portugal risk factor single nucleotide polymorphism Case-Control Studies Chromosomes, Human, Pair 9 Coronary Disease Female Humans Male Middle Aged Polymorphism, Single Nucleotide SDG 3 - Good Health and Well-being |
| title_short |
Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease |
| title_full |
Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease |
| title_fullStr |
Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease |
| title_full_unstemmed |
Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease |
| title_sort |
Independent association of the variant rs1333049 at the 9p21 locus and coronary heart disease |
| author |
Mendonça, M.I. |
| author_facet |
Mendonça, M.I. Dos Reis, R.P. Pereira, A. Café, H. Serráo, M. Sousa, A.C. Freitas, A.I. Guerra, G. Freitas, S. Freitas, C. Ornelas, I. Brehm, A. Araújo, J.J. |
| author_role |
author |
| author2 |
Dos Reis, R.P. Pereira, A. Café, H. Serráo, M. Sousa, A.C. Freitas, A.I. Guerra, G. Freitas, S. Freitas, C. Ornelas, I. Brehm, A. Araújo, J.J. |
| author2_role |
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, M.I. Dos Reis, R.P. Pereira, A. Café, H. Serráo, M. Sousa, A.C. Freitas, A.I. Guerra, G. Freitas, S. Freitas, C. Ornelas, I. Brehm, A. Araújo, J.J. |
| dc.subject.por.fl_str_mv |
Coronary artery disease Genetic polymorphisms Locus 9p21 Risk factors biological marker adult aged allele article chromosome 9p confidence interval controlled study coronary artery disease coronary risk female gene locus genetic analysis genetic association genetic variability genotype human logistic regression analysis major clinical study male nucleotide sequence polymerase chain reaction Portugal risk factor single nucleotide polymorphism Case-Control Studies Chromosomes, Human, Pair 9 Coronary Disease Female Humans Male Middle Aged Polymorphism, Single Nucleotide SDG 3 - Good Health and Well-being |
| topic |
Coronary artery disease Genetic polymorphisms Locus 9p21 Risk factors biological marker adult aged allele article chromosome 9p confidence interval controlled study coronary artery disease coronary risk female gene locus genetic analysis genetic association genetic variability genotype human logistic regression analysis major clinical study male nucleotide sequence polymerase chain reaction Portugal risk factor single nucleotide polymorphism Case-Control Studies Chromosomes, Human, Pair 9 Coronary Disease Female Humans Male Middle Aged Polymorphism, Single Nucleotide SDG 3 - Good Health and Well-being |
| description |
Funding: 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+). |
| publishDate |
2011 |
| dc.date.none.fl_str_mv |
2011 2011-01-01T00:00:00Z 2023-01-18T22:09:34Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10362/147771 |
| url |
http://hdl.handle.net/10362/147771 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
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0870-2551 PURE: 3166491 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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17 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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