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

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

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.

• Jezik: Angleški jezik
• Ključne besede: glaucoma, inflammation, oxidative stress, phenotype, polymorphism, susceptibility
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2021
• Št. strani: 18 str.
• Številčenje: Vol. 10, iss. 5, art. 1148
• PID: 20.500.12556/RUL-135021
• UDK: 617.7
• ISSN pri članku: 2077-0383
• DOI: 10.3390/jcm10051148
• COBISS.SI-ID: 57795075
• Datum objave v RUL: 17.02.2022

Gradivo je del revije

• Naslov: Journal of clinical medicine
• Skrajšan naslov: J. clin. med.
• Založnik: MDPI
• ISSN: 2077-0383
• COBISS.SI-ID: 5405759

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 09.03.2021

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: glavkom, vnetje, oksidativni stres

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P1-0170
• Naslov: Molekulski mehanizmi uravnavanja celičnih procesov v povezavi z nekaterimi boleznimi pri človeku

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0333
• Naslov: Očesne bolezni odraslih in otrok