scholarly journals TNF-α Gene Polymorphisms and Primary Open Angle Glaucoma in Romanian Population / Polimorfisme ale genei TNF-α în populația română cu glaucom primar cu unghi deschis

2015 ◽  
Vol 23 (1) ◽  
Author(s):  
Ruxandra Simionescu ◽  
Alina Popa Cherecheanu ◽  
Liliana Voinea ◽  
Roxana Sfrenț-Cornățeanu

AbstractPrimary open-angle glaucoma (POAG) represents the most common form of a heterogeneous group of glaucomatous optic neuropathies which are a worldwide cause of irreversible blindness. Immune dysregulation and the genetic background are considered important risk factors. The influence on susceptibility to POAG of single nucleotide polymorphisms (SNPs) of tumor necrosis factor-α (TNF-α) was intensively studied, mostly on Asian population. We investigated the possible association of two TNF-α SNPs (-308G/A and -857C/T) with susceptibility to POAG and its clinical characteristics. A case-control association study of aforementioned TNF-α SNPs was performed on 197 POAG patients (divided into two subgroups: high-tension and normal-tension glaucoma - HTG/ NTG) versus 208 ethnically matched controls. This is the first study performed on Romanian population. No significant differences were found in terms of allelic frequencies, genotype distribution of the studied SNPs, or their haplotypes between POAG and healthy control groups. In the subgroup analysis, TT genotype of TNF-α -857T-allele was found to be associated with higher values of central corneal thickness (CCT) in NTG subgroup (p-value 0.032). In order to confirm the association between -857C/T SNP of TNF-α and CCT in NTG subgroup of POAG patients, additional studies on different populations should be performed.

2021 ◽  
Vol 10 (9) ◽  
pp. 1953
Author(s):  
Yong-Woo Kim ◽  
Eunoo Bak ◽  
Seoyoung Wy ◽  
Seung-Chan Lee ◽  
Yu-Jeong Kim ◽  
...  

Rho-associated coiled-coil kinase (ROCK) signaling can affect glaucoma risk by regulating trabecular meshwork outflow. We investigated the effect of ROCK gene polymorphism on the risks of primary open-angle glaucoma (POAG) and POAG-related phenotypes including intraocular pressure (IOP) in a Korean population. A total of 24 single-nucleotide polymorphisms (SNPs) from ROCK1 and ROCK2 were selected and genotyped for 363 POAG patients and 213 healthy controls. Among the 363 POAG patients, 282 were normal-tension glaucoma (NTG, baseline IOP ≤ 21 mmHg) and 81 were high-tension glaucoma (HTG, baseline IOP > 21 mmHg). The SNPs rs288979, rs1006881, rs35996865, rs10083915, and rs11873284 in ROCK1 (tagged to each other, r2 = 1) were nominally associated with risk of HTG (OR = 0.52, p = 0.045). However, there were no SNPs that were significantly associated with the risk of NTG. In the genotype-phenotype correlation analysis, the SNPs rs2230773 and rs3771106 in ROCK2 were significantly correlated with central corneal thickness (CCT)-adjusted IOP (p = 0.024) and axial length (AXL; p = 0.024), respectively. The present data implicated the role of ROCK in POAG development, and as such, can serve as a good reference for upcoming Rho/ROCK-pathway-related studies on POAG.


2021 ◽  
Vol 8 (33) ◽  
pp. 3084-3089
Author(s):  
Ram Kumar Jaiswal ◽  
Ramyash Singh Yadav ◽  
Mridula Ranjan ◽  
Dipti Wahi ◽  
Chiranji Rai

BACKGROUND Myopia is a complex trait including both genetic and environmental factors as well as gene-environment interactions. It has been recognized as a risk factor for development of glaucoma. Both Myopia and raised IOP are known to increase mechanical stress at optic nerve head leading to glaucomatous nerve damage. This study intends to evaluate the clinical profile of myopic subjects and its correlation with Primary open angle glaucoma (POAG). METHODS A prospective observational study done from November 2019 to December 2020 after taking proper informed consent and ethical clearance. 164 eyes of 96 patients studied were divided into three groups, Group 1: low myopia (< -3.00D), Group 2: moderate myopia (-3.00 D to -5.75 D), Group 3: high myopia (≥ -6.00 D). A complete ocular examination was performed. Intraocular pressure was measured using Goldmann applanation tonometer. Visual field analysis using Humphrey automated perimetry was done in patients with suspected primary open angle glaucoma (POAG). Angle parameters and central corneal thickness (CCT) were measured using anterior segment optical coherence tomography (AS-OCT). RESULTS 164 eyes of 96 Myopic subjects were studied with no dropout during study period. Mean age was 46.05 yr. (range: 25-75 yr.). The refraction ranged from -0.50 DS to -17.00 DS. There was no statistically significant difference between Intraocular pressure (IOP), Central corneal thickness (CCT), corrected IOP and Nasal and Temporal Trabecular-iris Angle (TIA) between male and female of same age group. Mean IOP and mean CCT were found to vary significantly with age and with higher degree of myopia. Corrected IOP, Nasal and Temporal TIA increase significantly with higher degree of myopia. Cup-disc ratio (CDR) was found to be significantly higher in patients with moderate to high degree of Myopia. CONCLUSIONS Myopia is an important risk factor for development of primary open angle glaucoma, with its incidence increasing in patients with moderate to high myopia. KEYWORDS Myopia, Primary Open Angle Glaucoma, Intraocular Pressure, Central Corneal Thickness, Trabecular Iris Angle


2019 ◽  
Author(s):  
Ruyi Zhai ◽  
Huan Xu ◽  
Xinghuai Sun ◽  
Xiangmei Kong

Abstract Purpose: This study was aimed to analyze the profile of vascular and inflammatory cytokines in aqueous humor of primary open angle glaucoma (POAG) patients. Methods: Aqueous humor samples were acquired from 6 POAG patients and 7 age-related cataract patients that constituted the control group. A human cytokine antibody array was used to detect 37 proteins related to inflammation and vascular regulation. Characteristics including age, gender, and intraocular pressure (IOP) of POAG and age-related cataract patients were compared. Correlation analyses between aqueous humor cytokines and characteristics were performed. Results: The cytokine antibody array results showed that the signal intensities of soluble vascular endothelial growth factor receptor 1 (sVEGFR-1), von Willebrand factor (vWF), tumor necrosis factor (TNF)-α, and angiopoietin-2 in POAG patients were significantly higher in aqueous samples compared to controls (p < 0.05, Student’s test or Mann-Whitney U-test). Among cytokines of all aqueous samples, preoperative IOP was positively associated with expression quantity of sVEGFR-1 (r = 0.647, p = 0.02) and VEGF-A (r = 0.602, p = 0.04) and negatively associated with plasminogen activator inhibitor 1 expression (r = -0.593, p = 0.04). Values for sVEGFR-1 were positively correlated with vWF (r = 0.646, p = 0.02) and TNF-α (r = 0.824, p < 0.001) with statistical significance. Conclusion: Pathogenesis of primary open angle glaucoma may be associated with both vascular dysfunction and inflammatory responses. The vascular factors may include endothelial dysfunction and damaged vascular permeability as indicated by abnormal expression of vWF, sVEGFR-1 and angiopoietin-2. Keywords: POAG, aqueous humor, cytokines, sVEGFR-1, vWF, angiopoietin-2


Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 54
Author(s):  
Teja Alapati ◽  
Kyra M. Sagal ◽  
Harini V. Gudiseva ◽  
Maxwell Pistilli ◽  
Mark Pyfer ◽  
...  

Purpose: To establish if SNPs in TNF-α and IL-2 genes are associated with Primary Open-Angle Glaucoma (POAG) in African Americans (AA). We also determined whether plasma TNF-α and IL-2 levels could serve as biomarkers for POAG in African Americans using Sandwich enzyme-linked immunosorbent assay. Methods: A single SNP association analysis was performed to investigate the association between potential gene variants in TNF-α and IL-2 genes and POAG in the AA population. Plasma samples from 190 African Americans (72 from normal subjects and 118 POAG cases) were obtained for TNF- α studies and 367 samples (135 from normal subjects and 232 from POAG cases) were obtained for IL-2 studies. TNF-α levels and IL-2 levels were measured by sandwich enzyme-linked immunosorbent assays (ELISA) and analyzed to see if they reached significance in cases with POAG and endophenotypes when compared to normal subjects. Results: The SNP, rs1800630, in TNF-α gene was found to be marginally associated with POAG. SNPs in IL-2 gene were not associated with POAG in the case-control analysis. No significant difference was found between TNF-α levels and IL-2 levels in normal and POAG case subjects in our study. IL-2 levels were inversely correlated with high IOP in POAG cases. Conclusions: Although we found a marginal SNP association of TNF-α, assessing the expression levels of TNF-α and IL-2 may serve as promising biomarkers for African American POAG. Further investigation is needed to determine if POAG can be subdivided into more specified cohorts of the disease, which may affect plasma cytokine levels differently.


Author(s):  
Yuanping Wang ◽  
Lingzhi Niu ◽  
Jing Zhao ◽  
Mingxuan Wang ◽  
Ke Li ◽  
...  

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.


2016 ◽  
Vol 38 (4) ◽  
pp. 325-329 ◽  
Author(s):  
Jose Navarro-Partida ◽  
Beatriz Alvarado Castillo ◽  
Abril Bernardette Martinez-Rizo ◽  
Ramses Rosales-Diaz ◽  
Jesus Bernardino Velazquez-Fernandez ◽  
...  

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