Association of genetic polymorphisms in oxidative stress and inflammation pathways with glaucoma risk and phenotype

Atanasovska-Velkovska, Makedonka (author), Goričar, Katja (author), Blagus, Tanja (author), Dolžan, Vita (author), Cvenkel, Barbara (author)

Oxidative stress and neuroinflammation are involved in the pathogenesis and progression of glaucoma. Our aim was to evaluate the impact of selected single-nucleotide polymorphisms in inflammation and oxidative stress genes on the risk of glaucoma, the patients' clinical characteristics and the glaucoma phenotype. In total, 307 patients with primary open-angle glaucoma or ocular hypertension were enrolled. The control group included 339 healthy Slovenian blood donors. DNA was isolated from peripheral blood. Genotyping was performed for SOD2 rs4880, CAT rs1001179, GPX1 rs1050450, GSTP1 rs1695, GSTM1 gene deletion, GSTT1 gene deletion, IL1B rs1143623, IL1B rs16944, IL6 rs1800795 and TNF rs1800629. We found a nominally significant association of GSTM1 gene deletion with decreased risk of ocular hypertension and a protective role of IL1B rs16944 and IL6 rs1800629 in the risk of glaucoma. The CT and TT genotypes of GPX1 rs1050450 were significantly associated with advanced disease, lower intraocular pressure and a larger vertical cup–disc ratio. In conclusion, genetic variability in IL1B and IL6 may be associated with glaucoma risk, while GPX and TNF may be associated with the glaucoma phenotype. In the future, improved knowledge of these pathways has the potential for new strategies and personalised treatment of glaucoma.

• Language: English
• Keywords: glaucoma, inflammation, oxidative stress, phenotype, polymorphism, susceptibility
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2021
• Number of pages: 18 str.
• Numbering: Vol. 10, iss. 5, art. 1148
• PID: 20.500.12556/RUL-135021
• UDC: 617.7
• ISSN on article: 2077-0383
• DOI: 10.3390/jcm10051148
• COBISS.SI-ID: 57795075
• Publication date in RUL: 17.02.2022

Record is a part of a journal

• Title: Journal of clinical medicine
• Shortened title: J. clin. med.
• Publisher: MDPI
• ISSN: 2077-0383
• COBISS.SI-ID: 5405759

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.
• Licensing start date: 09.03.2021

Secondary language

• Language: Slovenian
• Keywords: glavkom, vnetje, oksidativni stres

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: P1-0170
• Name: Molekulski mehanizmi uravnavanja celičnih procesov v povezavi z nekaterimi boleznimi pri človeku

• Funder: ARRS - Slovenian Research Agency
• Project number: P3-0333
• Name: Očesne bolezni odraslih in otrok