Association between the rs2279238 and rs12221497 of the LXRA gene variants and diabetic retinopathy in the Slovenian cohort

Grbić, Emin (author), Letonja, Jernej (author), Globočnik Petrovič, Mojca (author), Karska-Basta, Izabella (author), Cilenšek, Ines (author), Petrovič, Danijel (author)

Aim: To investigate whether the rs2279238 and rs12221497 variants in the liver X receptor alpha (LXRA) gene are associated with diabetic retinopathy (DR) in patients with type 2 diabetes mellitus (T2DM). Considering the involvement of LXRA in lipid metabolism and inflammatory pathways, we hypothesized that these genetic variants might participate in the pathogenesis of DR. Methods: 1554 unrelated Caucasians who had type 2 diabetes mellitus (T2DM) for more than 10 years were included. Patients were divided into two groups: the cases (with DR, 577 subjects) and the control group (without DR, 977 subjects). Genetic analysis was performed using the KASPar assay. Results: We found a significant association between the rs2279238 variant and DR. The participants with the TT or TC genotype were more likely to have DR in comparison with the CC genotype according to the dominant model of inheritance (95 % OR: 1.35 (1.05–1.74), p = 0.028). We did not find an association between the rs12221497 variant and DR. Conclusions: The rs2279238 variant in the LXRA gene is significantly associated with diabetic retinopathy (DR) in Caucasians with T2DM. Individuals carrying the TT or TC genotype have a higher risk of developing DR compared to those with the CC genotype. However, no association was found between the rs12221497 variant and DR.

• Language: English
• Keywords: diabetic retinopathy, LXRA, rs12221497, rs2279238, T2DM, variant
• Work type: Article
• Typology: 1.03 - Other scientific articles
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2025
• Number of pages: 5 str.
• Numbering: Vol. 965, art. 149665
• PID: 20.500.12556/RUL-182576
• UDC: 616.379
• ISSN on article: 1879-0038
• DOI: 10.1016/j.gene.2025.149665
• COBISS.SI-ID: 245286403
• Publication date in RUL: 18.05.2026

Record is a part of a journal

• Title: Gene
• Shortened title: Gene
• Publisher: Elsevier
• ISSN: 1879-0038
• COBISS.SI-ID: 23394309

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, sladkorna bolezen tipa 2, varianta

Projects

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