Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype
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 glauc...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-03-01
|
| Series: | Journal of Clinical Medicine |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2077-0383/10/5/1148 |
| _version_ | 1797541970068897792 |
|---|---|
| author | Makedonka Atanasovska Velkovska Katja Goričar Tanja Blagus Vita Dolžan Barbara Cvenkel |
| author_facet | Makedonka Atanasovska Velkovska Katja Goričar Tanja Blagus Vita Dolžan Barbara Cvenkel |
| author_sort | Makedonka Atanasovska Velkovska |
| collection | DOAJ |
| description | 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 <i>SOD2</i> rs4880, <i>CAT</i> rs1001179, <i>GPX1</i> rs1050450, <i>GSTP1</i> rs1695, <i>GSTM1</i> gene deletion, <i>GSTT</i>1 gene deletion, <i>IL1B</i> rs1143623, <i>IL1B</i> rs16944, <i>IL6</i> rs1800795 and <i>TNF</i> rs1800629. We found a nominally significant association of <i>GSTM1</i> gene deletion with decreased risk of ocular hypertension and a protective role of <i>IL1B</i> rs16944 and <i>IL6</i> rs1800629 in the risk of glaucoma. The CT and TT genotypes of <i>GPX1</i> rs1050450 were significantly associated with advanced disease, lower intraocular pressure and a larger vertical cup–disc ratio. In conclusion, genetic variability in <i>IL1B</i> and <i>IL6</i> may be associated with glaucoma risk, while <i>GPX</i> and <i>TNF</i> 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. |
| first_indexed | 2024-03-10T13:24:05Z |
| format | Article |
| id | doaj.art-53550a03501744f5946bba62e404163f |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T13:24:05Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-53550a03501744f5946bba62e404163f2023-11-21T09:48:03ZengMDPI AGJournal of Clinical Medicine2077-03832021-03-01105114810.3390/jcm10051148Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and PhenotypeMakedonka Atanasovska Velkovska0Katja Goričar1Tanja Blagus2Vita Dolžan3Barbara Cvenkel4Department of Ophthalmology, University Medical Centre Ljubljana, 1000 Ljubljana, SloveniaPharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, SloveniaPharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, SloveniaPharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, SloveniaDepartment of Ophthalmology, University Medical Centre Ljubljana, 1000 Ljubljana, SloveniaOxidative 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 <i>SOD2</i> rs4880, <i>CAT</i> rs1001179, <i>GPX1</i> rs1050450, <i>GSTP1</i> rs1695, <i>GSTM1</i> gene deletion, <i>GSTT</i>1 gene deletion, <i>IL1B</i> rs1143623, <i>IL1B</i> rs16944, <i>IL6</i> rs1800795 and <i>TNF</i> rs1800629. We found a nominally significant association of <i>GSTM1</i> gene deletion with decreased risk of ocular hypertension and a protective role of <i>IL1B</i> rs16944 and <i>IL6</i> rs1800629 in the risk of glaucoma. The CT and TT genotypes of <i>GPX1</i> rs1050450 were significantly associated with advanced disease, lower intraocular pressure and a larger vertical cup–disc ratio. In conclusion, genetic variability in <i>IL1B</i> and <i>IL6</i> may be associated with glaucoma risk, while <i>GPX</i> and <i>TNF</i> 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.https://www.mdpi.com/2077-0383/10/5/1148glaucomainflammationoxidative stressphenotypepolymorphismsusceptibility |
| spellingShingle | Makedonka Atanasovska Velkovska Katja Goričar Tanja Blagus Vita Dolžan Barbara Cvenkel Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype Journal of Clinical Medicine glaucoma inflammation oxidative stress phenotype polymorphism susceptibility |
| title | Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype |
| title_full | Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype |
| title_fullStr | Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype |
| title_full_unstemmed | Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype |
| title_short | Association of Genetic Polymorphisms in Oxidative Stress and Inflammation Pathways with Glaucoma Risk and Phenotype |
| title_sort | association of genetic polymorphisms in oxidative stress and inflammation pathways with glaucoma risk and phenotype |
| topic | glaucoma inflammation oxidative stress phenotype polymorphism susceptibility |
| url | https://www.mdpi.com/2077-0383/10/5/1148 |
| work_keys_str_mv | AT makedonkaatanasovskavelkovska associationofgeneticpolymorphismsinoxidativestressandinflammationpathwayswithglaucomariskandphenotype AT katjagoricar associationofgeneticpolymorphismsinoxidativestressandinflammationpathwayswithglaucomariskandphenotype AT tanjablagus associationofgeneticpolymorphismsinoxidativestressandinflammationpathwayswithglaucomariskandphenotype AT vitadolzan associationofgeneticpolymorphismsinoxidativestressandinflammationpathwayswithglaucomariskandphenotype AT barbaracvenkel associationofgeneticpolymorphismsinoxidativestressandinflammationpathwayswithglaucomariskandphenotype |