SIRT1 gene polymorphisms associated with decreased risk of atherosclerotic coronary artery disease

M Nasiri1, M Rauf1, H Kamfiroozie2

  • 1Department of Biology, Islamic Azad University, Arsanjan Branch, Arsanjan, Iran.

Gene
|June 10, 2018
PubMed

Insights

Genetic variations in the SIRT1 gene are linked to coronary artery disease (CAD) risk. Specific SIRT1 gene polymorphisms, particularly rs12413112, show a significant association with CAD, suggesting a role in disease development.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Molecular Biology

Background:

  • Coronary artery disease (CAD) has a significant genetic component, with the SIRT1 gene implicated in atheroprotective roles.
  • Alterations in SIRT1 expression can impact metabolism, cholesterol levels, and fat deposition, all relevant to CAD pathogenesis.

Purpose of the Study:

  • To investigate the association between specific polymorphisms (rs4746720, rs12413112, rs1467568) in the SIRT1 gene and the risk of CAD.
  • To analyze genetic variations in high-risk individuals and compare them with healthy controls.

Main Methods:

  • Retrospective case-control study involving 150 healthy individuals and 150 CAD patients.
  • Genotyping of SIRT1 polymorphisms (rs4746720, rs12413112, rs1467568) using ARMS PCR and tetra primer-ARMS PCR techniques.

Main Results:

  • The rs12413112 polymorphism showed a significantly lower frequency of the AG heterozygote genotype in CAD cases compared to controls (P < 0.001).
  • A significant difference in the A-positive genotype frequency (AA+AG vs. GG) for rs12413112 was observed between groups (P < 0.001), with a lower frequency of the variant A allele in cases (P = 0.01).
  • A specific haplotype (rs1467568A, rs12413112A, rs4746720T) demonstrated a significant protective effect against CAD risk (OR: 0.53; P = 0.001).

Conclusions:

  • The SIRT1 gene may play a role in the pathogenesis of coronary artery disease.
  • Further research is recommended to validate these findings and elucidate the precise mechanisms by which SIRT1 polymorphisms influence CAD risk.

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