Association between IL1A and IL1B polymorphisms and primary open angle glaucoma in a Brazilian population

The aim of this study was to investigate the association of five polymorphisms in the IL1A and IL1B genes in Brazilian patients with primary open angle glaucoma (POAG). A case–control study, including 214 unrelated POAG patients and 187 healthy individuals, was conducted to evaluate the frequency of polymorphisms in the IL1A and IL1B genes. Ophthalmic evaluation was performed and genomic DNA was obtained from all participants. Five single nucleotide polymorphisms (SNPs): IL1A (–889C/T: rs1800587:C > T, +4845G/T:rs17561G>T) and IL1B (–31C/T:rs1143627:T > C, –511C/T:rs16944C>T and +3954C/T:rs1143634:C > T) were genotyped through direct sequencing. The association of individual SNPs was tested using logistic regression. There was an association between the –31C/T and –511 C/T polymorphisms in the IL1B gene with POAG (p = 0.002 and p = 0.009, respectively). High linkage disequilibrium was observed between the –31C/T and –511C/T polymorphisms. The statistical analysis showed that the T/C haplotype (–31/–511) in the IL1B gene is more frequent in controls (p = 0.011) and the C/T haplotype (–31/–511) is more common in POAG patients (p = 0.018). Among POAG cases, the genotypic distribution of the –31C/T and –511 C/T SNPs was significantly different in patients who underwent anti-glaucomatous surgery compared to patients without surgery (p = 0.016 and 0.023, respectively). There was no statistically significant difference for the remaining SNPs between POAG patients and controls. In conclusion, the C allele of the –31C/T and the T allele of the –511C/T polymorphisms in the IL1B gene may represent a “risk haplotype” for the development of POAG in Brazilian individuals. Further studies with larger cohorts of patients are necessary to substantiate these findings. Impact statement This study is the first, according to our knowledge, to show the association between glaucoma and the functional –31C/T single nucleotide polymorphism. We provide evidence indicating that homozygotes CC at –31C/T and TT at –511 C/T of IL1B are at risk for glaucoma. We also demonstrated that these polymorphisms are in strong linkage disequilibrium (LD). Increasing evidence support the role of inflammation in glaucoma and this study is an important result that reinforces these findings. How IL-1 signaling influences the triggering and pathogenesis of glaucoma remains to be investigated. Greater understanding of the mechanisms leading to glaucoma will provide the development of new management strategies that target the primary disease lesion and maybe the discovery of new treatments.

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Intraocular pressure control after trabeculectomy in the patients with primary open angle glaucoma and pseudoexfoliative glaucoma followed up for 3 to 5 years

Vojnosanitetski pregled ◽

10.2298/vsp161228178m ◽

2019 ◽

Vol 76 (8) ◽

pp. 822-829

Author(s):

Vesna Maric ◽

Vujica Markovic ◽

Marija Bozic ◽

Ivan Marjanovic ◽

Paraskeva Hentova-Sencanic ◽

...

Keyword(s):

Intraocular Pressure ◽

Primary Open Angle Glaucoma ◽

Open Angle Glaucoma ◽

Survival Curve ◽

Pressure Control ◽

Safe Procedure ◽

Open Angle ◽

Success Rates ◽

Pseudoexfoliative Glaucoma ◽

Significant Difference

Background/Aim. Trabeculectomy is a safe procedure which effectively reduces the intraocular pressure (IOP). IOP is the most frequent indicator of success after glaucoma surgery. The aim of this work was to evaluate the long-term pressure control in primary open-angle glaucoma (POAG) and in pseudoexfoliative glaucoma (XFG) after primary trabeculectomy without the use of mitomycin-C (MMC), 3 to 5 years after trabeculectomy. Methods. This study involved a retrospective evaluation of 332 consecutive patients (352 eyes), 174 patients (188 eyes) with POAG (mean age of 64.0 ? 8.6 years) and 158 patients (164 eyes) with XFG (mean age of 70.7 ? 8.9 years) who underwent primary trabeculectomy between January 2007 and December 2009 at the Clinic for Eye Diseases, Clinical Center of Serbia in Belgrade. A successful control of IOP was defined as achieving IOP ? 21 mmHg without medication (complete success), or with a single topical medication (qualified success). Results. According to the type of glaucoma POAG/XFG preoperative IOP was 28.4 ? 6.3/30.4 ? 8.4 mmHg, respectively (p = 0.311) and last postoperative IOP was 16.9 ? 5.2/18.7 ? 5.9 mmHg, respectively (p = 0.681). According to the Kaplan-Meier survival curve, the complete success in the group with POAG in 1, 3 and 5 years were 85%, 75% and 58% and in the group with XFG were 82%, 70% and 56%, respectively. There was no statistically significant difference in the complete success rates between the patients with POAG and XFG. Conclusion. The primary goal of surgery was to achieve a sufficiently low IOP without additional medication, thus preventing progression of glaucomatous damage. In our study, the complete success in the group with POAG was achieved in 75% and 58% of the patients in the period of 3 and 5 years after surgery, respectively and in the group with XFG complete success was achieved in 70% and 56% of the patients respectively.

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An update: mechanisms of microRNA in primary open-angle glaucoma

Briefings in Functional Genomics ◽

10.1093/bfgp/elaa020 ◽

2020 ◽

Author(s):

Yuanping Wang ◽

Lingzhi Niu ◽

Jing Zhao ◽

Mingxuan Wang ◽

Ke Li ◽

...

Keyword(s):

Intraocular Pressure ◽

Primary Open Angle Glaucoma ◽

Open Angle Glaucoma ◽

Nucleotide Polymorphisms ◽

Open Angle ◽

Single Nucleotide ◽

Optic Nerve Damage ◽

The World ◽

And Function ◽

Main Factor

Abstract Glaucoma is a disease with characteristic optic neuropathy and loss of vision, leading to blindness, and primary open-angle glaucoma (POAG) is the most common glaucoma type throughout the world. Genetic susceptibility is the main factor in POAG, and most susceptibility genes cause changes in microRNA expression and function, thereby leading to POAG occurrence and development. Increasing evidence indicates that many microRNAs are involved in the regulation of intraocular pressure (IOP) and play an important role in the increase in IOP in POAG. Additionally, microRNA is closely related to optic nerve damage factors (mechanical stress, hypoxia and inflammation). This review discusses the effect of single-nucleotide polymorphisms in POAG-related genes on microRNA and the value of microRNA in the diagnosis and treatment of POAG.

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Association of single‐nucleotide polymorphisms in TLR4 gene and gene–environment interaction with primary open angle glaucoma in a Chinese northern population

The Journal of Gene Medicine ◽

10.1002/jgm.3139 ◽

2019 ◽

Vol 22 (1) ◽

Author(s):

Huijuan Liu ◽

Shixin Qi ◽

Wei He ◽

Cuirong Chang ◽

Yanhui Chen ◽

...

Keyword(s):

Primary Open Angle Glaucoma ◽

Open Angle Glaucoma ◽

Environment Interaction ◽

Nucleotide Polymorphisms ◽

Open Angle ◽

Northern Population ◽

Single Nucleotide ◽

Gene Environment Interaction ◽

Gene Environment ◽

Tlr4 Gene

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Apolipoprotein E–Promoter Single-Nucleotide Polymorphisms Affect the Phenotype of Primary Open-Angle Glaucoma and Demonstrate Interaction with the Myocilin Gene

The American Journal of Human Genetics ◽

10.1086/340733 ◽

2002 ◽

Vol 70 (6) ◽

pp. 1575-1581 ◽

Cited By ~ 56

Author(s):

Bruno Copin ◽

Antoine P. Brézin ◽

Françoise Valtot ◽

Jean-Claude Dascotte ◽

Alain Béchetoille ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Apolipoprotein E ◽

Primary Open Angle Glaucoma ◽

Open Angle Glaucoma ◽

Nucleotide Polymorphisms ◽

Open Angle ◽

Single Nucleotide

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Association of single-nucleotide polymorphisms in non-coding regions of the TLR4 gene with primary open angle glaucoma in a Mexican population

Ophthalmic Genetics ◽

10.1080/13816810.2016.1227454 ◽

2016 ◽

Vol 38 (4) ◽

pp. 325-329 ◽

Cited By ~ 8

Author(s):

Jose Navarro-Partida ◽

Beatriz Alvarado Castillo ◽

Abril Bernardette Martinez-Rizo ◽

Ramses Rosales-Diaz ◽

Jesus Bernardino Velazquez-Fernandez ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Primary Open Angle Glaucoma ◽

Open Angle Glaucoma ◽

Mexican Population ◽

Nucleotide Polymorphisms ◽

Open Angle ◽

Single Nucleotide ◽

Coding Regions ◽

Tlr4 Gene

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Binocular integrated visual field deficits are associated with changes in local network function in primary open-angle glaucoma: a resting-state fMRI study

10.1101/2021.07.19.452985 ◽

2021 ◽

Author(s):

Giorgia Demaria ◽

Azzurra Invernizzi ◽

Daniel Ombelet ◽

Joana Carvalho ◽

Remco Renken ◽

...

Keyword(s):

Visual Field ◽

Functional Connectivity ◽

Resting State ◽

Primary Open Angle Glaucoma ◽

Open Angle Glaucoma ◽

Brain Regions ◽

Local Network ◽

Open Angle ◽

Significant Difference ◽

Global Brain

Recent brain imaging studies have shown that the degenerative eye damage generally observed in the clinical setting, also extends intracranially. Both structural and functional brain changes have been observed in glaucoma participants, but we still lack an understanding of whether these changes also affect the integrity of cortical functional networks. This is relevant, as functional network integrity may affect the applicability of future treatments, as well as the options for rehabilitation or training. Here, we compare global and local functional connectivity between glaucoma and controls. Moreover, we study the relationship between functional connectivity and visual field (VF) loss. For our study, 20 subjects with primary open angle glaucoma (POAG) and 24 age similar healthy participants were recruited to undergo a complete ophthalmic assessment followed by two resting state (RS) (f)MRI scans. For each scan and for each group, the ROIs with EC values higher than the 95th percentile were considered the most central brain regions (hubs). Hubs for which we found a significant difference in EC in both scans between glaucoma and healthy were considered to provide evidence for network changes. In addition, for each participant, behavioural scores were derived based on the notion that a brain regions hub function might relate to the: 1) sensitivity of the worse eye, indicating disease severity, 2) sensitivity of both eyes combined, with one eye potentially compensating for loss in the other, or 3) difference in eye sensitivity, requiring additional network interactions. By correlating each of these VF scores and the EC values, we assessed whether VF defects could be associated with centrality alterations in POAG. Our results show that no functional connectivity disruptions were found at the global brain level in POAG participants. This indicates that in glaucoma global brain network communication is preserved. Furthermore, a positive correlation was found between the EC value of the Lingual Gyrus, identified as a brain hub, and the behavioral score for the VF sensitivity of both eyes combined. The fact that reduced local network functioning is associated with reduced binocular VF sensitivity suggests the presence of local brain reorganization that has a bearing on functional visual abilities.

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Comparison of Hypotensive Effect of Endotrabeculoectomy and Selective Laser Trabeculoplasty

International scientific-practical journal Ophthalmology ◽

10.30702/ophthalmology28122021-15.4.19-25/615.849.19 ◽

2021 ◽

pp. 19-25

Author(s):

Olha V. Levytska ◽

Igor Ya. Novytskyy

Keyword(s):

Intraocular Pressure ◽

Primary Open Angle Glaucoma ◽

Open Angle Glaucoma ◽

Glaucoma Surgery ◽

Hypotensive Effect ◽

Open Angle ◽

Selective Laser Trabeculoplasty ◽

Laser Trabeculoplasty ◽

Significant Difference ◽

The Difference

Hypotensive effect of endotrabeculectomy was compared with that of selective laser trabeculoplasty in patients with primary open-angle glaucoma (POAG). We evaluated 44 patients (44 eyes) with POAG. In the first group (23 patients), endotrabeculectomy (trabecular ablation through the angle of anterior chamber) was performed, and in the second group (21 patients) the patients underwent selective laser trabeculoplasty. When comparing the intraocular pressure (IOP), it was found that the difference between preoperative and postoperative IOP was significant up to 6 months of follow-up in both groups (p < 0.05), however, hypotensive effect in the first group was more pronounced (7.58 vs. 1.55 mmHg, respectively). When comparing the number of hypotensive medications used before and after glaucoma surgery, it was found that the difference in patients of the first group was significant throughout the observation period (p = 0.028), while in patients of the second group there was no significant difference from the 3rd month of observation. The number of topical drugs to reduce IOP decreased by 1.44 in the first group (p < 0.05) and by 0.33 in the second group (p = 0.109). Endotrabeculectomy, as well as selective laser trabeculoplasty, showed significant hypotensive effect in patients with POAG within 6 months of observation, however, hypotensive effect of endotrabeculectomy significantly overweighted that of SLT. Keywords: endotrabeculectomy, selective laser trabeculoplasty, intraocular pressure, primary open-angle glaucoma.

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SELENIUM AND SELENOPROTEIN P1 LEVELS ARE RELATED TO PRIMARY OPEN-ANGLE GLAUCOMA / NIVOI SELENA I SELENOPROTEINA P1 POVEZANI SU SA PRIMARNIM GLAUKOMOM OTVORENOG UGLA

Journal of Medical Biochemistry ◽

10.2478/jomb-2013-0024 ◽

2013 ◽

Vol 33 (2) ◽

pp. 143-148 ◽

Cited By ~ 1

Author(s):

Mohammad Najafi ◽

Morteza Nouruzi Yeganeh ◽

Arezoo Miraftabi ◽

Reza Zarei ◽

Isa Noormohammadi

Keyword(s):

Aqueous Humour ◽

Primary Open Angle Glaucoma ◽

Reduced Glutathione ◽

Open Angle Glaucoma ◽

Serum Levels ◽

Visual Field Defects ◽

Unknown Etiology ◽

Serum Selenium ◽

Open Angle ◽

Significant Difference

Summary Background Glaucoma is a highly prevalent eye disease related to optic nerve lesions and visual field defects. Primary Open-Angle Glaucoma (POAG) is a type of glaucoma that occurs frequently with unknown etiology. In this study, we investigated the serum levels of selenium, selenoprotein P1, glutathione, hemolysate glutathione peroxidase1 (GPx1) activity and aqueous humour selenium in POAG patients. Methods Ninety sex- and age-matched subjects (POAG patients; n=45 and, controls; n=45) with the controlled confounders (smoking, hypertension and alcohol beverages) were recruited on clinical histories and exams. The serum and aqueous humour selenium levels were measured using GFAAS technique. The serum selenoprotein P1 level was assayed with the ELISA method. The hemolysate GPx1 activity and serum reduced glutathione level were also measured using known colorimetric techniques. Results The serum selenium (P=0.01) and selenoprotein P1 (P<0.001) levels were significantly high in POAG patients. Furthermore, the aqueous humour selenium level was significantly high among patients as compared to controls (64.68±13.07 vs. 58.36±13.76 ng/mL, P=0.02). The results did not show a significant difference (P=0.36) in the hemolysate GPx1 activity between the groups. The cutoff points for intraocular pressure (IOP) and serum selenoprotein P1 parameters were estimated to be 39 mmHg (sensitivity 97.5%; 1-specificity 6.5%) and 188 mg/mL (sensitivity 93.5%; 1-specificity 14%), respectively.

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