ArticleMolecular vision2014
Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.
Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 6 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 6 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Can MicroRNAs Serve as Diagnostic Biomarkers for Glaucoma? A Systematic Review and Meta-analysis of Their Diagnostic Significance.Molecular diagnosis & therapy · 2026Pooled it
- Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma (POAG): a meta-analysis from 21,775 subjects.Irish journal of medical science · 2022Pooled it
- Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis.BMC medical genomics · 2021Pooled it
- Association of Glaucoma Risk Genes with Retinal Nerve Fiber Layer in a Multi-ethnic Asian Population: The Singapore Epidemiology of Eye Diseases Study.Investigative ophthalmology & visual science · 2020Pooled it
- CDKN2B gene rs1063192 polymorphism decreases the risk of glaucoma.Oncotarget · 2017Pooled it
- Association between the p53 codon 72 polymorphism and primary open-angle glaucoma risk: Meta-analysis based on 11 case-control studies.Indian journal of ophthalmology · 2016Pooled it
- Caveolar and non-Caveolar Caveolin-1 in ocular homeostasis and disease.Progress in retinal and eye research · 2022Review
- New loci for refractive errors and ocular biometric parameters in young Chinese Han adults.Science China. Life sciences · 2022Article
- The Intertwined Roles of Oxidative Stress and Endoplasmic Reticulum Stress in Glaucoma.Antioxidants (Basel, Switzerland) · 2022Review
- TXNRD2 (rs35934224) CT genotype as possible protective marker for primary open-angle glaucoma in a Brazilian population.Arquivos brasileiros de oftalmologia · 2021Article
- The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.International journal of molecular sciences · 2020Review
- Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma.PloS one · 2020Article
- SNP located in anThe British journal of ophthalmology · 2019Article
- Glaucoma Pathogenesis and Neurotrophins: Focus on the Molecular and Genetic Basis for Therapeutic Prospects.Current neuropharmacology · 2018Review
- Major review: Molecular genetics of primary open-angle glaucoma.Experimental eye research · 2017Review
- Additive effects of genetic variants associated with intraocular pressure in primary open-angle glaucoma.PloS one · 2017Article
- Expression-associated polymorphisms of CAV1-CAV2 affect intraocular pressure and high-tension glaucoma risk.Molecular vision · 2015Article
- The association between ethnicity, environmental and lifestyle factors and chronic disease in the development of pseudoexfoliation syndrome.Pakistan journal of medical sciencesArticle
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeDespite the different etiology of primary open angle glaucoma (POAG), primary angle closure glaucoma (PACG), and pseudoexfoliative glaucoma (PEXG), several studies have suggested that these forms of glaucoma have overlapping genetic risk factors. Therefore, the aim of this study was to evaluate the role of genetic variants recently associated with POAG in different types of glaucoma in Pakistani POAG, PACG, and PEXG patient cohorts.
methodsSix variants in CDKN2B-AS1 (rs4977756), CDKN2B (rs1063192), ATOH7 (rs1900004), CAV1 (rs4236601), TMCO1 (rs4656461), and SIX1 (rs10483727) were genotyped using TaqMan assays. A total of 513 unrelated patients with glaucoma (268 with POAG, 125 with PACG, and 120 with PEXG) and 233 healthy controls were included in the study. Genotypic and allelic associations were analyzed with a chi-square test.
resultsThe frequency of the G allele of TMCO1 rs4656461 was significantly lower in the patients with POAG (p=0.003; OR [odds ratio]=0.57), PACG (p=0.009; OR=0.52), and PEXG (p=0.01; OR=0.54) compared to the control individuals. The T allele of ATOH7 rs1900004 was observed less frequently in the patients with PACG (p=0.03; OR=0.69) compared to the control individuals. The A allele of CAV1 rs4236601 was found more frequently in the patients with POAG (p=0.008; OR=1.49) compared to the control individuals. This study demonstrates that the TMCO1 rs4656461 variant is associated with POAG, PACG and PEXG in the Pakistani population. Our study was unable to confirm previous associations reported for variants in CDKN2B-AS1, CDKN2B, and SIX1 with any type of glaucoma.
conclusionsIn conclusion, we found consistent evidence of the significant association of three common variants in TMCO1, ATOH7, and CAV1.
Indexed as
Identifiers
25489222PMC4225136W2135502746What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.