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Exploring the impact of the GJA4 rs618675 variant on cardiovascular prevention

2026-07-03Artigo científico Acesso aberto
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dc.contributor.authorMendonça, Maria Isabel
dc.contributor.authorPalma dos Reis, Roberto
dc.contributor.authorSá, Débora
dc.contributor.authorSousa, Francisco
dc.contributor.authorHenriques, Eva
dc.contributor.authorBorges, Sofia
dc.contributor.authorFreitas, Sónia
dc.contributor.authorRodrigues, Mariana
dc.contributor.authorGuerra, Graça
dc.contributor.authorDrumond, António
dc.contributor.authorSousa, Ana Célia
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblSociedade Portuguesa de Cardiologia | Elsevier
dc.date.accessioned2026-07-14T14:26:01Z
dc.date.available2026-07-14T14:26:01Z
dc.date.issued2026-07-03
dc.descriptionCopyright © 2026. Publicado por Elsevier España, S.L.U.
dc.description.abstractINTRODUCTION AND OBJECTIVES: The gap junction alpha-4 (GJA4) gene, which encodes connexin37, regulates endothelial function and influences inflammation, platelet adhesion, and thrombus formation in vascular endothelial cells, which may favour atherosclerosis and cardiovascular (CV) events. The main objective is to assess whether the GJA4 rs618675 T>C variant is a risk factor for the onset of CV events in an asymptomatic Portuguese population. METHODS: 1421 individuals without CV disease (52.2±8.3 years, 73.6% male) were followed up during a mean of 7.3±6.0 years, and CV events were recorded. GJA4 rs618675 T>C was genotyped by real-time PCR (TaqMan), and four genetic models were created. We analysed traditional, biochemical and clinical risk factors. We performed bivariate analysis and adjusted logistic regression with respective OR. Kaplan-Meier estimated event-free survival and Cox regression, adjusted for confounding, evaluated the association between four genetic models and CV events (HR). RESULTS: Wild TT genotype, TC, and CC were 50.6%, 39.2%, and 10.1% in the CV events group and 66.2%, 30.4% and 3.4% in the non-events group (p=0.001). After logistic regression, the codominant model (CCvsTT and CTvsTT) showed an OR of 3.9 (p=0.002). Kaplan-Meier showed 87.6% event-free time for TT and 64.8% for CC (p=0.005). Adjusted Cox regression identified the codominant model as the best predictor (HR=2.8; p=0.008), together with male gender (HR=2.1; p=0.020), age (HR=1.1; p=0.001), hypertension (HR=1.9; p=0.014), smoking (HR=1.9; p=0.010), and leucocytosis (HR=1.2; p=0.003). CONCLUSION: We have demonstrated that the CC variant of GJA4 is significantly associated with CV events. Further investigations into this biomarker may improve CV risk prediction, leading to better primary prevention.en
dc.description.versionproof
dc.description.versionepub_ahead_of_print
dc.format.extent1027154
dc.identifier.doi10.1016/j.repc.2026.03.013
dc.identifier.issn0304-4750
dc.identifier.otherPURE: 168029499
dc.identifier.otherPURE UUID: 267bcdbf-1fbd-41f6-a7d4-b1db9a37ef01
dc.identifier.otherPubMed: 42398818
dc.identifier.urihttp://hdl.handle.net/10362/204510
dc.language.isoeng
dc.peerreviewedyes
dc.titleExploring the impact of the GJA4 rs618675 variant on cardiovascular preventionen
dc.typejournal article
degois.publication.titleRevista Portuguesa de Cardiologia
dspace.entity.typePublication
rcaap.rightsopenAccess

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