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dc.contributor.authorZanon-Moreno, Vicente
dc.contributor.authorOrtega-Azorin, Carolina
dc.contributor.authorAsensio-Marquez, Eva M
dc.contributor.authorGarcia-Medina, Jose J
dc.contributor.authorPinazo-Duran, Maria D
dc.contributor.authorColtell, Oscar
dc.contributor.authorOrdovas, Jose M 
dc.contributor.authorCorella, Dolores
dc.identifier.citationInt J Mol Sci. 2017; 18(11):E2302es_ES
dc.description.abstractPrimary 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.sponsorshipThis 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.relation.isversionofPublisher's versiones_ES
dc.subjectgenetic risk scorees_ES
dc.subjectprimary open-angle glaucomaes_ES
dc.subjectvitamin Ces_ES
dc.subjectvitamin Ees_ES
dc.subject.meshAged es_ES
dc.subject.meshAscorbic Acid es_ES
dc.subject.meshCase-Control Studies es_ES
dc.subject.meshFemale es_ES
dc.subject.meshGenetic Loci es_ES
dc.subject.meshGenetic Predisposition to Disease es_ES
dc.subject.meshGenome-Wide Association Study es_ES
dc.subject.meshGenotype es_ES
dc.subject.meshGlaucoma, Open-Angle es_ES
dc.subject.meshHumans es_ES
dc.subject.meshMale es_ES
dc.subject.meshMediterranean Region es_ES
dc.subject.meshMiddle Aged es_ES
dc.subject.meshRisk Factors es_ES
dc.subject.meshVitamin E es_ES
dc.subject.meshPolymorphism, Genetices_ES
dc.titleA 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 Concentrationses_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.contributor.funderMinisterio de Sanidad, Consumo y Bienestar Social (España)es_ES
dc.contributor.funderMinisterio de Economía y Competitividad (España)es_ES
dc.contributor.funderInstituto de Salud Carlos III - ISCIIIes_ES
dc.contributor.funderEuropean Regional Development Fund (ERDF/FEDER)es_ES
dc.contributor.funderCentro de Investigación Biomedica en Red - CIBERes_ES
dc.contributor.funderUniversidad Jaume Ies_ES
dc.identifier.journalInternational journal of molecular scienceses_ES
dc.repisalud.orgCNICCNIC::Grupos de investigación::Imagen Cardiovascular y Estudios Poblacionaleses_ES

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