SIRT1 rs7069102 polymorphism confers increased risk of diabetic retinopathy in T2DM

Bešić, Melina (author), Letonja, Jernej (author), Globočnik Petrovič, Mojca (author), Peterlin, Ana Marija (author), Šuligoj, Ema (author), Stare, Stella (author), Petrovič, Danijel (author)

Background: The incidence and prevalence of type 2 diabetes mellitus (T2DM) has been increasing worldwide recently. Diabetic retinopathy (DR) is a major ocular complication of diabetes mellitus, and it is the leading cause of blindness and visual impairment. Sirtuin 1 (SIRT 1) is a NAD+-dependent deacetylase and is involved in stress responses such as hypoxic and genotoxic stress, inflammation and heat shock. Tumor necrosis factor α (TNF-α) is an important inflammatory mediator that is involved in the pathogenesis of T2DM. The purpose of our study was to investigate the relationship between the SIRT1 rs7069102 polymorphism and TNF- α rs1800629 polymorphisms and diabetic retinopathy (DR) in patients with type 2 diabetes mellitus (T2DM). Materials and methods: We analyzed 1554 Slovenian (Caucasian) patients with T2DM of at least 10 years' duration, stratifying them into two groups: 577 patients with diabetic retinopathy (DR) and 977 patients without DR. Genotyping of SIRT1 rs7069102 and TNF-α rs1800629 polymorphisms was performed using the StepOne real-time PCR System with TaqMan SNP Genotyping Assays. Results and conclusions: A significant difference in the distribution of SIRT1 rs7069102 genotypes and alleles was observed between the groups. Under the dominant inheritance model, patients with CC or CG genotypes were more likely to develop DR than those with the GG genotype (OR = 1.30; 95% CI = 1.02-1.65; p = 0.036). No significant association was found between TNF-α rs1800629 and DR.

• Language: English
• Keywords: SIRT1, T2DM, TNF-α, diabetic retinopathy, rs1800629, rs7069102
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2026
• Number of pages: 11 str.
• Numbering: Vol. 17, iss. 2, art. 221
• PID: 20.500.12556/RUL-185466
• UDC: 577.2
• ISSN on article: 2073-4425
• DOI: 10.3390/genes17020221
• COBISS.SI-ID: 270948355
• Publication date in RUL: 06.08.2026

Record is a part of a journal

• Title: Genes
• Shortened title: Genes
• Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: diabetična retinopatija

Projects

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: P3-0326
• Name: Ginekologija in reprodukcija: Genomika za personalizirano medicino