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Epicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk Marker

2021-07-02Journal article Open access
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dc.contributor.authorSousa, João Adriano
dc.contributor.authorMendonca, Maria Isabel
dc.contributor.authorSerrão, Marco
dc.contributor.authorBorges, Sofia
dc.contributor.authorHenriques, Eva
dc.contributor.authorFreitas, Sónia
dc.contributor.authorTentem, Margarida
dc.contributor.authorSantos, Marina
dc.contributor.authorFreitas, Pedro
dc.contributor.authorFerreira, António
dc.contributor.authorGuerra, Graça
dc.contributor.authorDrumond, António
dc.contributor.authorPalma Reis, Roberto
dc.date.accessioned2022-01-06T12:01:45Z
dc.date.available2022-01-06T12:01:45Z
dc.date.issued2021-07-02
dc.description.abstractEvidence points epicardial adipose tissue (EAT) as an emerging cardiovascular risk marker. Whether genetic polymorphisms linked with atherosclerosis are associated with higher EAT is still unknown. We aim to assess the role of genetic burden of atherosclerosis and its association to EAT in a cohort of asymptomatic individuals without coronary disease. A total of 996 participants were prospectively enrolled in a single Portuguese center. EAT volume was measured by Cardiac Computed Tomography and participants were distributed into 2 groups, above and below median EAT. SNPs were genotyped and linked to their respective pathophysiological axes. A multiplicative genetic risk score (mGRS) was constructed, representing the genetic burden of the studied SNPs. To evaluate the association between genetics and EAT, we compared both groups by global mGRS, mGRS by functional axes, and SNPs individually. Individuals above-median EAT were older, had a higher body mass index (BMI) and higher prevalence of hypertension, metabolic syndrome, diabetes, and dyslipidemia. They presented higher GRS, that remained an independent predictor of higher EAT volumes. The group with more EAT consistently presented higher polymorphic burden across numerous pathways. After adjustment, age, BMI, and mGRS of each functional axis emerged as independently related to higher EAT volumes. Amongst the 33 SNPs, MTHFR677 polymorphism emerged as the only significant and independent predictor of higher EAT volumes. Patients with higher polymorphism burden for atherosclerosis present higher EAT volumes. We present the first study in a Portuguese population, evaluating the genetic profile of EAT through GWAS and GRS, casting further insight into this complicated matter.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationSousa JA, Mendonça MI, Serrão M, et al. Epicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk Marker. Clin Med Insights Cardiol. 2021;15:11795468211029244. Published 2021 Jul 3. doi:10.1177/11795468211029244pt_PT
dc.identifier.doi10.1177/11795468211029244pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.26/38659
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSAGE Journalspt_PT
dc.subjectEpicardial adipose tissuept_PT
dc.subjectGenetic Risk Scorept_PT
dc.subjectatherosclerosispt_PT
dc.subjectcardiovascular risk factorspt_PT
dc.subjectgenetic polymorphismspt_PT
dc.titleEpicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk Markerpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage9pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleClinical Medicine Insights: Cardiologypt_PT
oaire.citation.volume15pt_PT
person.familyNameMendonca
person.familyNameBorges
person.familyNameHenriques
person.familyNameFreitas
person.familyNamePalma dos Reis
person.givenNameMaria Isabel
person.givenNameSofia
person.givenNameEva
person.givenNameSónia
person.givenNameRoberto José
person.identifier.ciencia-idE915-4E29-A5FA
person.identifier.orcid0000-0001-5450-5213
person.identifier.orcid0000-0002-9413-7942
person.identifier.orcid0000-0002-7312-5272
person.identifier.orcid0000-0001-5204-8928
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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SESARAM - C - Unidade de Investigação Dr.ª Maria Isabel Mendonça