scholarly journals Lack of Association Between Polymorphisms in TXNRD2 and LMX1B and Primary Open-Angle Glaucoma in a Saudi Cohort

2021 ◽  
Vol 12 ◽  
Author(s):  
Altaf A. Kondkar ◽  
Taif A. Azad ◽  
Abdullah S. Alobaidan ◽  
Tahira Sultan ◽  
Essam A. Osman ◽  
...  
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Statistical Tests ◽  
Statistical Significance ◽  
Middle Eastern ◽  
Nucleotide Polymorphisms ◽  
Open Angle ◽  
Retrospective Case ◽  
Genotype Effect ◽  
Clinical Indices

Objective: Recent studies have demonstrated an association of single nucleotide polymorphisms (SNPs) rs35934224 in TXNRD2 and rs6478746 near LMX1B genes in primary open-angle glaucoma (POAG) among Europeans. We performed a retrospective, case-control study to investigate the association between the rs35934224 (TXNRD2) and rs6478746 (LMX1B) and POAG in a middle-eastern population from Saudi Arabia.Methods: DNA from 399 participants consisting of 150 POAG cases (83 males and 67 females) and 249 controls (135 males and 114 females) were genotyped using TaqMan® real-time PCR. Statistical tests were performed to evaluate genetic association with POAG and related clinical indices.Results: The minor allele frequency (MAF) of rs35934224[T] was 0.19 and 0.20 in POAG and controls, respectively. The difference was non-significant (odds ratio [OR] = 1.08, 95% confidence interval [CI] = 0.75–1.55, p = 0.663). Likewise, rs6478746[G] MAF was 0.12 in both cases and controls with no statistical significance (OR = 1.02, 95% CI = 0.67–1.56, p = 0.910). Genotype analysis showed no association with POAG for both the SNPs in combined and gender-stratified groups. Regression analysis showed no significant effect of risk factors such as age, sex, rs35934224, and rs6478746 genotypes on POAG outcome. Furthermore, both the SNPs showed no significant genotype effect on clinical indices such as intraocular pressure (IOP) and cup/disc ratio in POAG patients.Conclusions: Rs35934224 in TXNRD2 and rs6478746 near LMX1B genes are not associated with POAG or related clinical indices such as IOP and cup/disc ratio in a Saudi cohort. Since the study is limited by sample size further investigations are needed to confirm these results in a larger cohort.

scholarly journals Lack of Association between Variant rs7916697 in ATOH7 and Primary Open Angle Glaucoma in a Saudi Cohort

2018 ◽  
Vol 2018 ◽  
pp. 1-6
Author(s):  
Altaf A. Kondkar ◽  
Taif A. Azad ◽  
Faisal A. Almobarak ◽  
Ibrahim M. Bahabri ◽  
Hatem Kalantan ◽  
...  
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Systemic Disease ◽  
Allelic Association ◽  
Bhlh Transcription Factor ◽  
Open Angle ◽  
Clinical Phenotypes ◽  
Genotype Effect ◽  
Significant Difference ◽  
Clinical Indices

A case-control genetic association study was performed to investigate whether variant rs7916697 in atonal bHLH transcription factor 7 (ATOH7), which has been previously reported to be associated with optic disc parameters and primary open angle glaucoma (POAG) in different ethnic groups, is a risk factor for POAG or any of its clinical phenotypes in a Saudi cohort. Genotyping of rs7916697 (G>A) variant was performed in 186 unrelated POAG cases and 171 unrelated nonglaucomatous controls of Saudi origin using real-time Taq-Man® assay. Genotypic and allelic association with POAG and its related clinical indices were evaluated. Demographic and systemic disease status did not differ significantly between POAG cases and controls. Association analysis between POAG cases and controls showed no significant genotype effect under additive (p=0.707), dominant (p=0.458), and recessive (p=0.554) models. Besides, the minor ‘A’ allele frequency was 0.39 in POAG cases and 0.36 in controls with no significant distribution (p=0.406). In addition, there was no significant difference between genotypes and clinical phenotypes such as intraocular pressure and cup/disc ratio within the POAG group, or any age and sex adjusted genotype effect on the disease outcome in regression analysis. Variant rs7916697 in ATOH7 is not associated with POAG or its clinical indices such as IOP and cup/disc ratio in a Saudi cohort.

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

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.

Associations between Blood Cell Profiles and Primary Open-Angle Glaucoma: A Retrospective Case-Control Study

2020 ◽  
Vol 63 (4) ◽  
pp. 413-422 ◽  
Author(s):  
Binghua Tang ◽  
Shengjie Li ◽  
Jianping Han ◽  
Wenjun Cao ◽  
Xinghuai Sun
Keyword(s):  
Blood Cell ◽  
Case Control Study ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Case Control ◽  
Open Angle ◽  
Retrospective Case ◽  
Control Study

Association of rs12997 variant in the ACVR1 gene: a member of bone morphogenic protein signaling pathway with primary open-angle glaucoma in a Saudi cohort

2020 ◽  
pp. jim-2020-001596
Author(s):  
Altaf A Kondkar ◽  
Taif A Azad ◽  
Tahira Sultan ◽  
Essam A Osman ◽  
Faisal A Almobarak ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Large Population ◽  
Bone Morphogenic Protein ◽  
Additive Models ◽  
Type I ◽  
Protein Signaling ◽  
Open Angle ◽  
Retrospective Case

We investigated the association between variants rs12997 in activin A receptor type I (ACVR1) and rs1043784 in BMP6 located in the 3' untranslated region, and primary open-angle glaucoma (POAG). The retrospective case-control study used TaqMan real-time PCR assay to genotype 400 subjects, including 150 patients with POAG and 250 controls. The minor ‘G’ allele of rs12997 in ACVR1 showed significant association with POAG (p=0.027, OR=1.39, 95% CI=1.03 to 1.87). Likewise, rs12997 genotypes showed moderate association with POAG in recessive (p=0.048, OR=1.80, 95% CI=1.01 to 3.20) and log-additive models (p=0.030, OR=1.39, 95% CI=1.03 to 1.87), but did not survive Bonferroni correction. Rs1043784 in BMP6 showed no associations. Furthermore, rs12997 G/G genotype significantly (p=0.033) increased the risk of POAG (twofolds) independent of age, sex and rs1043784 genotypes in regression analysis. However, clinical variables such as intraocular pressure and cup/disc ratio showed no association with both the polymorphisms. To conclude, the study shows a modest association between rs12997 in the ACVR1 gene, a member of the bone morphogenic protein signaling pathway and POAG. However, the results need further replication in large population-based cohorts and different ethnicities to validate its role as an important genetic biomarker.

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

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 ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Mexican Population ◽  
Nucleotide Polymorphisms ◽  
Open Angle ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Tlr4 Gene

Association of Toll-like receptor 4 single-nucleotide polymorphisms Asp299Gly and Thr399Ile with the risk of primary open angle glaucoma

2017 ◽  
Vol 255 (5) ◽  
pp. 995-1001 ◽  
Author(s):  
Jose Navarro-Partida ◽  
Abril Bernardette Martinez-Rizo ◽  
Pedro Ramirez-Barrera ◽  
Jesus Bernardino Velazquez-Fernandez ◽  
Veronica A Mondragon-Jaimes ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Nucleotide Polymorphisms ◽  
Open Angle ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Single Nucleotide

Evaluation of the IL1 Gene Cluster Single Nucleotide Polymorphisms in Primary Open-Angle Glaucoma Pathogenesis

2016 ◽  
Vol 20 (10) ◽  
pp. 633-636 ◽  
Author(s):  
Suddhasil Mookherjee ◽  
Deblina Banerjee ◽  
Subhadip Chakraborty ◽  
Indranil Mukhopadhyay ◽  
Abhijit Sen ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Gene Cluster ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Nucleotide Polymorphisms ◽  
Open Angle ◽  
Single Nucleotide

scholarly journals Genetic Risk and Phenotype Correlation of Primary Open-Angle Glaucoma Based on Rho-Kinase Gene Polymorphisms

2021 ◽  
Vol 10 (9) ◽  
pp. 1953
Author(s):  
Yong-Woo Kim ◽  
Eunoo Bak ◽  
Seoyoung Wy ◽  
Seung-Chan Lee ◽  
Yu-Jeong Kim ◽  
...  
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Corneal Thickness ◽  
Coiled Coil ◽  
Rho Kinase ◽  
Normal Tension Glaucoma ◽  
Nucleotide Polymorphisms ◽  
Open Angle ◽  
Phenotype Correlation ◽  
Kinase Gene

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.

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