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

  • Sousa, João Adriano1
  • Mendonça, Maria Isabel1
  • Serrão, Marco1
  • Borges, Sofia1
  • Henriques, Eva1
  • Freitas, Sónia1
  • Tentem, Margarida1
  • Santos, Marina1
  • Freitas, Pedro2
  • Ferreira, António2
  • Guerra, Graça1
  • Drumond, António1
  • Palma Reis, Roberto3
  • 1 Centro de Investigação Dra Maria Isabel Mendonça, Hospital Dr Nélio Mendonça, SESARAM, EPERAM, Funchal, Madeira, Portugal
  • 2 Hospital Santa Cruz, Centro Hospitalar Lisboa Ocidental, CHLO, Carnaxide, Portugal
  • 3 Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisboa, Portugal
Published Article
Clinical Medicine Insights. Cardiology
SAGE Publications
Publication Date
Jul 03, 2021
DOI: 10.1177/11795468211029244
PMID: 34276231
PMCID: PMC8255575
PubMed Central
  • Original Research


Evidence 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.

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