Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis

2015 ◽  
Vol 14 (4) ◽  
pp. 17262-17272 ◽  
Author(s):  
Z. Wang ◽  
M. Li ◽  
L. Li ◽  
H. Sun ◽  
X.Y. Lin
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Open Angle ◽  
Single Nucleotide ◽  
Cyp1b1 Gene

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

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.

scholarly journals Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants in MT-CYB, MT-ND4 Genes and Haplogroups

2021 ◽  
Vol 12 ◽  
Author(s):  
Valeria Lo Faro ◽  
Ilja M. Nolte ◽  
Jacoline B. Ten Brink ◽  
Harold Snieder ◽  
Nomdo M. Jansonius ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Mitochondrial Genome ◽  
Mitochondrial Dysfunction ◽  
Primary Open Angle Glaucoma ◽  
Ganglion Cells ◽  
Open Angle Glaucoma ◽  
Mitochondrial Gene ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Open Angle

Background and purpose: Primary open-angle glaucoma (POAG) is an optic neuropathy characterized by death of retinal ganglion cells and atrophy of the optic nerve head. The susceptibility of the optic nerve to damage has been shown to be mediated by mitochondrial dysfunction. In this study, we aimed to determine a possible association between mitochondrial SNPs or haplogroups and POAG.Methods: Mitochondrial DNA single nucleotide polymorphisms (mtSNPs) were genotyped using the Illumina Infinium Global Screening Array-24 (GSA) 700K array set. Genetic analyses were performed in a POAG case-control study involving the cohorts, Groningen Longitudinal Glaucoma Study-Lifelines Cohort Study and Amsterdam Glaucoma Study, including 721 patients and 1951 controls in total. We excluded samples not passing quality control for nuclear genotypes and samples with low call rate for mitochondrial variation. The mitochondrial variants were analyzed both as SNPs and haplogroups. These were determined with the bioinformatics software HaploGrep, and logistic regression analysis was used for the association, as well as for SNPs.Results: Meta-analysis of the results from both cohorts revealed a significant association between POAG and the allele A of rs2853496 [odds ratio (OR) = 0.64; p = 0.006] within the MT-ND4 gene, and for the T allele of rs35788393 (OR = 0.75; p = 0.041) located in the MT-CYB gene. In the mitochondrial haplogroup analysis, the most significant p-value was reached by haplogroup K (p = 1.2 × 10−05), which increases the risk of POAG with an OR of 5.8 (95% CI 2.7–13.1).Conclusion: We identified an association between POAG and polymorphisms in the mitochondrial genes MT-ND4 (rs2853496) and MT-CYB (rs35788393), and with haplogroup K. The present study provides further evidence that mitochondrial genome variations are implicated in POAG. Further genetic and functional studies are required to substantiate the association between mitochondrial gene polymorphisms and POAG and to define the pathophysiological mechanisms of mitochondrial dysfunction in glaucoma.

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