Related Experiment Video
Updated: Feb 9, 2026

Signal Acquisition, Score Interpretation, and Economics of a Non-Invasive Point-of-Care Test for Coronary Artery Disease
Published on: August 9, 2024
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.
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.
Abstract:
Coronary artery disease (CAD) exhibits the rules of the multifactorial hereditary. Notwithstanding, the role of genetic factors in the prevalence of CAD is estimated very high. SIRT1 plays an athero-protective role and alterations in its expression have some important consequence in the metabolism, cholesterol, and fat deposition. The aim of our study was to investigate the association between rs4746720, rs12413112, and rs1467568 polymorphisms in the SIRT1 gene and CAD in the high-risk cases. In the present retrospective case-control study, 150 healthy individuals and 150 cases diagnosed with atherosclerotic lesions were investigated. ARMS PCR was used to determine the genotypes of rs4746720 polymorphism, while tetra primer-ARMS PCR was used for genotyping of rs12413112 and rs1467568 polymorphisms. Considering rs12413112 polymorphism, the frequency of the AG heterozygote genotype was significantly lower in cases than controls (P < 0.001). Furthermore, the frequency of the A-positive (AA+AG vs. GG) genotype was significantly different between groups (P < 0.001). The frequency of the variant A allele was 0.36% in cases and 0.46% in controls (P = 0.01). Except for a borderline protective effect in the present of rs1467568AG genotype, the allele and genotype distributions of both rs1467568 and rs4746720 polymorphisms did not differ between two groups. The haplotype constructed from rs1467568A, rs12413112A, and rs4746720T alleles showed a significant protective effect on the risk of CAD (OR: 0.53; 95%CI: 0.35-0.78; P = 0.001). In conclusion, the SIRT1 gene may contribute to the pathogenesis of CAD, while further investigations were suggested to confirm our results.
More Related Videos
Related Concept Videos
Coronary Artery Disease I: Introduction
Coronary Artery Disease II: Pathophysiology
Coronary Artery Disease V: Interprofessional Care
Coronary Artery Disease III: Clinical Manifestations
Coronary Artery Disease IV: Preventive Measures
Decreasing Function

