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Acute coronary syndrome: Relationship between genetic variants and TIMI risk

Viviane do Carmo Vasconcelos de Carvalho1, Lílian Caroliny Amorim Silva1, Romário Martins Araújo1

  • 1Laboratório de Imunologia e Biologia Molecular, Departamento de Imunologia, Instituto Aggeu Magalhães, Fiocruz - PE, Av. Professor Moraes Rego, s/n, Cidade Universitária, Zipe Code: 50.740-465, Recife, PE, Brazil.

Cytokine
|April 16, 2018
PubMed

Insights

Genetic variants in IL6R and TNFa genes are associated with Acute Coronary Syndrome (ACS). The IL6R TT genotype may protect against ACS and reduce inflammatory markers, suggesting a link between genetics and cardiovascular disease risk.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Medicine
  • Immunogenetics

Background:

  • Acute Coronary Syndrome (ACS) is a complex disease influenced by genetic factors and coronary artery obstruction.
  • Genetic variants in genes like IL6R, TNFa, LEPR, and IL1b have been implicated as potential risk factors for ACS.
  • Early diagnosis and risk stratification using Thrombolysis in Myocardial Infarction (TIMI) risk are crucial for ACS management.

Purpose of the Study:

  • To investigate the association of specific genetic variants in IL6R, TNFa, LEPR, and IL1b genes with ACS.
  • To evaluate the relationship between these genetic variants, TIMI risk scores, serum cytokine levels, and common ACS risk factors.
  • To explore the potential protective role of certain genotypes against ACS and their impact on inflammatory markers.

Main Methods:

  • Genotyping of IL6R (c950-1722C>T), TNFa (c.-488G>A), LEPR (c.2673+1118C>T), and IL1b (c.-598T>C) variants using DNA sequencing or enzymatic cleavage.
  • Selection of 200 ACS patients, 50 non-ACS patients, and 295 blood donors for comparative analysis.
  • Measurement of serum cytokine levels (e.g., TNF-α) using ELISA and assessment of risk factors like dyslipidemia and hypertension.

Main Results:

  • Hypertension was a frequent risk factor in ACS patients and correlated with high TIMI risk (p=0.003).
  • Significant differences in genotype frequencies for IL6R (p=0.0002) and TNFa (p=0.01) were observed between ACS patients and blood donors.
  • The IL6R TT genotype, more prevalent in blood donors and low TIMI risk individuals, was associated with lower c-reactive protein and troponin levels in ACS patients, indicating reduced inflammation and tissue damage.

Conclusions:

  • Genetic variants in IL6R and TNFa play a role in the susceptibility to ACS.
  • The IL6R TT genotype may confer a protective effect against ACS and is associated with a less severe inflammatory response.
  • These findings underscore the importance of population-specific genetic studies in understanding the interplay between genetic factors and cardiovascular diseases like ACS.

Keywords:
Acute coronary syndromeCytokinesGenetic variantsRisk factors

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