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SIRT1 rs7069102 Polymorphism Confers Increased Risk of Diabetic Retinopathy in T2DM
Melina Bešić1,2, Jernej Letonja1,2, Mojca Globočnik Petrovič3,4
1Laboratory for Histology and Genetics of Atherosclerosis and Microvascular Diseases, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000 Ljubljana, Slovenia.
Genes
|February 27, 2026
Summary
The SIRT1 rs7069102 gene variant is linked to an increased risk of developing diabetic retinopathy (DR) in type 2 diabetes mellitus (T2DM) patients. The TNF-α rs1800629 polymorphism showed no association with DR risk.
Area of Science:
- Genetics and Ophthalmology
- Metabolic Disorders Research
Background:
- Type 2 diabetes mellitus (T2DM) and its complication, diabetic retinopathy (DR), are increasing globally.
- DR is a leading cause of blindness, necessitating research into its pathogenesis.
- Sirtuin 1 (SIRT1) and Tumor Necrosis Factor alpha (TNF-α) are implicated in T2DM and inflammatory processes.
Purpose of the Study:
- To investigate the association between SIRT1 rs7069102 and TNF-α rs1800629 polymorphisms and DR in T2DM patients.
- To identify genetic factors influencing DR development in Caucasian populations.
Main Methods:
- Genotyping of 1554 Slovenian Caucasian T2DM patients using TaqMan SNP Genotyping Assays.
- Stratification of patients into groups with and without DR (n=577 and n=977, respectively).
- Analysis of SIRT1 rs7069102 and TNF-α rs1800629 polymorphisms via real-time PCR.
Main Results:
- A significant difference in SIRT1 rs7069102 genotype and allele distribution was found between DR and non-DR groups.
- Patients with CC or CG genotypes of SIRT1 rs7069102 had a higher likelihood of developing DR (OR=1.30, p=0.036) under a dominant model.
- No significant association was observed between TNF-α rs1800629 and DR.
Conclusions:
- The SIRT1 rs7069102 polymorphism is associated with an increased risk of DR in T2DM patients.
- SIRT1 genetic variations may play a role in the pathogenesis of diabetic retinopathy.
- TNF-α rs1800629 polymorphism is not a significant risk factor for DR in this population.
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