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dc.contributor.author | Zanon-Moreno, Vicente | |
dc.contributor.author | Ortega-Azorin, Carolina | |
dc.contributor.author | Asensio-Marquez, Eva M | |
dc.contributor.author | Garcia-Medina, Jose J | |
dc.contributor.author | Pinazo-Duran, Maria D | |
dc.contributor.author | Coltell, Oscar | |
dc.contributor.author | Ordovas, Jose M | |
dc.contributor.author | Corella, Dolores | |
dc.date.accessioned | 2019-02-28T15:44:19Z | |
dc.date.available | 2019-02-28T15:44:19Z | |
dc.date.issued | 2017-11-01 | |
dc.identifier.citation | Int J Mol Sci. 2017; 18(11):E2302 | es_ES |
dc.identifier.issn | 1422-0067 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/7260 | |
dc.description.abstract | Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. The genetics of POAG are complex, and population-specific effects have been reported. Although many polymorphisms associated with POAG risk have been reported, few studies have analyzed their additive effects. We investigated, in a southern European Mediterranean population, the association between relevant POAG polymorphisms, identified by initial genome-wide association studies (GWASs) and POAG risk, both separately and as an aggregated multi-locus genetic risk score (GRS). Also, bearing in mind that oxidative stress is a factor increasingly recognized in the pathogenesis of POAG, we analyzed the potential association of the GRS with plasma concentrations of antioxidant vitamins (C and E). We carried out a case-control study including 391 POAG cases and 383 healthy controls, and analyzed four genetic polymorphisms (rs4656461-TMCO1, rs4236601-CAV1/CAV2, rs2157719-CDKN2B-AS1 and rs3088440-CDKN2A). An unweighted GRS including the four non-linked polymorphisms was constructed. A strong association between the GRS and POAG risk was found. When three categories of the GRS were considered, subjects in the top category of the GRS were 2.92 (95% confidence interval (CI): 1.79-4.77) times more likely to have POAG compared with participants in the bottom category (p < 0.001). Moreover, the GRS was inversely correlated with plasma vitamin C (p = 0.002) and vitamin E (p = 0.001) concentrations, even after additional adjustment for POAG status. In conclusion, we have found a strong association between the GRS and POAG risk in this Mediterranean population. While the additional correlation found between GRS and low levels of vitamins C and E does not indicated a causal relationship, it does suggest the need for new and deeper research into the effects of oxidative stress as a potential mechanism for those associations. | es_ES |
dc.description.sponsorship | This study was partially funded by the Spanish Ministry of Health (Instituto de Salud Carlos III) and the Ministerio de Economía y Competitividad-Fondo Europeo de Desarrollo Regional (FEDER) (grants: CIBER 06/03, Red Temática de Investigación Cooperativa OftaRed and PRX17/00500), and by the University Jaume I (grants: P1-1B2013-54 and COGRUP/2016/06). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Multidisciplinary Digital Publishing Institute (MDPI) | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | GWAS | es_ES |
dc.subject | Genetic risk score | es_ES |
dc.subject | Genetics | es_ES |
dc.subject | Nutrition | es_ES |
dc.subject | Primary open-angle glaucoma | es_ES |
dc.subject | Vitamin C | es_ES |
dc.subject | Vitamin E | es_ES |
dc.subject.mesh | Aged | es_ES |
dc.subject.mesh | Ascorbic Acid | es_ES |
dc.subject.mesh | Case-Control Studies | es_ES |
dc.subject.mesh | Female | es_ES |
dc.subject.mesh | Genetic Loci | es_ES |
dc.subject.mesh | Genetic Predisposition to Disease | es_ES |
dc.subject.mesh | Genome-Wide Association Study | es_ES |
dc.subject.mesh | Genotype | es_ES |
dc.subject.mesh | Glaucoma, Open-Angle | es_ES |
dc.subject.mesh | Humans | es_ES |
dc.subject.mesh | Male | es_ES |
dc.subject.mesh | Mediterranean Region | es_ES |
dc.subject.mesh | Middle Aged | es_ES |
dc.subject.mesh | Risk Factors | es_ES |
dc.subject.mesh | Vitamin E | es_ES |
dc.subject.mesh | Polymorphism, Genetic | es_ES |
dc.title | A Multi-Locus Genetic Risk Score for Primary Open-Angle Glaucoma (POAG) Variants Is Associated with POAG Risk in a Mediterranean Population: Inverse Correlations with Plasma Vitamin C and E Concentrations | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Atribución 4.0 Internacional | * |
dc.identifier.pubmedID | 29104244 | es_ES |
dc.format.volume | 18 | es_ES |
dc.format.number | 11 | es_ES |
dc.format.page | 2302 | es_ES |
dc.identifier.doi | 10.3390/ijms18112302 | es_ES |
dc.contributor.funder | Ministerio de Sanidad, Consumo y Bienestar Social (España) | |
dc.contributor.funder | Ministerio de Economía y Competitividad (España) | |
dc.contributor.funder | Instituto de Salud Carlos III | |
dc.contributor.funder | Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) | |
dc.contributor.funder | Centro de Investigación Biomedica en Red - CIBER | |
dc.contributor.funder | Jaume I University (España) | |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1422-0067 | es_ES |
dc.relation.publisherversion | https://doi.org/10.3390/ijms18112302 | es_ES |
dc.identifier.journal | International journal of molecular sciences | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Imagen Cardiovascular y Estudios Poblacionales | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.rights.accessRights | open access | es_ES |