scholarly journals Investigation of ARHGEF12 Single Nucleotide Polymorphism in Hypercholesterolemia and Primary Open Angle Glaucoma

2020 ◽  
Vol 31 (4) ◽  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma

2010 ◽  
Vol 32 (1) ◽  
pp. 18-23 ◽  
Author(s):  
Niro Kasahara ◽  
Cristiano Caixeta-Umbelino ◽  
Maurício D. Paolera ◽  
Mylene N. Rocha ◽  
Flávio Richeti ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Gene Promoter ◽  
Open Angle ◽  
Nucleotide Polymorphism ◽  
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.

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

scholarly journals Association of the SNP rs112369934 near TRIM66 Gene with POAG Endophenotypes in African Americans

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1420
Author(s):  
Claire D. Kim ◽  
Harini V. Gudiseva ◽  
Brendan McGeehan ◽  
Ebenezer Daniel ◽  
Gui Shuang Ying ◽  
...  
Keyword(s):  
African Americans ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Nucleotide Polymorphism ◽  
Fiber Layer ◽  
Single Nucleotide ◽  
Qualitative And Quantitative ◽  
Suggestive Association ◽  
Rnfl Thickness ◽  
Cup To Disc Ratio

We investigated the association of the single nucleotide polymorphism (SNP) rs112369934 near the TRIM66 gene with qualitative and quantitative phenotypes of primary open-angle glaucoma (POAG) in African Americans (AA). AA subjects over 35 years old were recruited for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study in Philadelphia, PA. Glaucoma cases were evaluated for phenotypes associated with POAG pathogenesis, and the associations between rs112369934 and phenotypes were investigated by logistic regression analysis and in gender-stratified case cohorts: The SNP rs112369934 was found to have a suggestive association with retinal nerve fiber layer (RNFL) thickness and cup-to-disc ratio (CDR) in 1087 male AA POAG cases, individuals with the TC genotype having thinner RNFL (95% CI 0.85 to 6.61, p = 0.01) and larger CDR (95% CI −0.07 to −0.01, p = 0.02) than those with wildtype TT. No other significant associations were found. In conclusion SNP rs112369934 may play a role in POAG pathogenesis in male AA individuals. However, this SNP has been implicated in higher POAG risk in both male and female AA POAG cases.

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

2018 ◽  
Vol 243 (13) ◽  
pp. 1083-1091 ◽  
Author(s):  
Mariana B Oliveira ◽  
José Paulo C de Vasconcellos ◽  
Galina Ananina ◽  
Vital P Costa ◽  
Mônica B de Melo
Keyword(s):  
Linkage Disequilibrium ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Strong Linkage Disequilibrium ◽  
Risk Haplotype ◽  
Open Angle ◽  
Single Nucleotide ◽  
Individual Snps ◽  
Significant Difference ◽  
Il1b Gene

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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