Gene do Fator de Transcrição 21 e prognóstico numa população coronária

Translated title of the contribution: Transcription factor 21 gene and prognosis in a coronary population

Marina Raquel Santos, Maria Isabel Mendonça, Margarida Temtem, Débora Sá, Ana Célia Sousa, Sónia Freitas, Mariana Rodrigues, Sofia Borges, Graça Guerra, Ilídio Ornelas, António Drumond, Roberto Palma dos Reis

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)
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Introduction and Objectives: Transcription factor 21 (TCF21) is a member of the basic helix-loop-helix (bHLH) transcription factor family, and is critical for embryogenesis of the heart. It regulates differentiation of epicardium-derived cells into smooth muscle cell (SMC) and fibroblast lineages. The biological role of TCF21 in the progression of atherosclerosis is the subject of debate. The aim of this study was to investigate the impact of the TCF21 rs12190287 gene variant on the prognosis of coronary artery disease (CAD) in a Portuguese population from Madeira island. Methods: We analyzed major adverse cardiovascular events (MACE) in 1713 CAD patients, mean age 53.3±7.8, 78.7% male, for 5.0±4.3 years. Genotype and allele distribution between groups with and without MACE was determined. The dominant genetic model (heterozygous GC plus homozygous CC) was used and compared with the wild GG to assess survival probability. Cox regression with risk factors and genetic models assessed variables associated with MACE. Kaplan-Meier analysis was used to estimate survival. Results: The wild homozygous GG, heterozygous GC and risk CC genotypes were found in 9.5%, 43.2% and 47.3% of the population, respectively. The dominant genetic model remained in the equation as an independent risk factor for MACE (HR 1.41; p=0.033), together with multivessel disease, chronic kidney disease, low physical activity and type 2 diabetes. The C allele in the dominant genetic model showed worse survival (22.5% vs. 44.3%) at 15 years of follow-up. Conclusion: The TCF21 rs12190287 variant is a risk factor for CAD events. This gene may influence fundamental SMC processes in response to vascular stress, accelerating atherosclerosis progression, and may represent a target for future therapies.

Translated title of the contributionTranscription factor 21 gene and prognosis in a coronary population
Original languagePortuguese
JournalRevista Portuguesa de Cardiologia
Publication statusE-pub ahead of print - 29 Jun 2023


  • Coronary artery disease
  • Genetic susceptibility
  • Major adverse cardiovascular events
  • Risk factors
  • Transcription factor 21


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