ArticlePloS one2017
Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- 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
- Genetic associations of variants in 10 glaucoma-related genes with POAG risk and structural phenotypes in Korean subjects.Medicine · 2026Article
- Genetic Link Across Species: SIX6, a Major Human Glaucoma Gene, Confers Susceptibility to Glaucoma in Shiba-Inu Dogs.Investigative ophthalmology & visual science · 2026Article
- SH-SY5Y human neuronal cells with mutations of theBiochemistry and biophysics reports · 2024Article
- Single-nucleotide polymorphisms ofExperimental biology and medicine (Maywood, N.J.) · 2023Article
- Genome-Wide Association Study and Transcriptome of Japanese Patients with Developmental Dysplasia of the Hip Demonstrates an Association with the Ferroptosis Signaling Pathway.International journal of molecular sciences · 2023Article
- Significance of the lncRNAs MALAT1 and ANRIL in occurrence and development of glaucoma.Journal of clinical laboratory analysis · 2022Article
- NovelMolecular vision · 2022Article
- Association ofMolecular vision · 2022Article
- Primary open angle glaucoma genetics: The common variants and their clinical associations (Review).Molecular medicine reports · 2020Review
- Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study.Scientific reports · 2020Article
- Oxidative Stress-Induced circHBEGF Promotes Extracellular Matrix Production via Regulating miR-646/EGFR in Human Trabecular Meshwork Cells.Oxidative medicine and cellular longevity · 2020Article
- In vivo and in vitro knockout system labelled using fluorescent protein via microhomology-mediated end joining.Life science alliance · 2020Article
- Polymorphisms rs693421 and rs2499601 at locus 1q43 and their haplotypes are not associated with primary open-angle glaucoma: a case-control study.BMC research notes · 2019Article
- Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.Nature communications · 2019Article
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Authors and funding
22 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo test the genetic association between Japanese patients with primary open-angle glaucoma (POAG) and the previously reported POAG susceptibility loci and to perform genotype-phenotype analysis.
methodsGenetic associations for 27 SNPs from 16 loci previously linked to POAG were assessed using genome-wide SNP data of the primary cohort (565 Japanese POAG patients and 1,104 controls). Reproducibility of the assessment was tested in 607 POAG cases and 455 controls (second cohort) with a targeted genotyping approach. For POAG-associated variants, a genotype-phenotype correlation study (additive, dominant, recessive model) was performed using the objective clinical data derived from 598 eyes of 598 POAG patients.
resultsAmong 27 SNPs from 16 loci previously linked to POAG, genotypes for total of 20 SNPs in 13 loci were available for targeted association study. Among 8 SNPs in 3 loci that showed at least nominal association (P < 5.00E-02) in the primary cohort, a representative SNP for each loci (rs2157719 for CDKN2B-AS1, rs33912345 for SIX6, and rs9913911 for GAS7) were selected. For these SNPs the association was found significant in both the second cohort analysis and meta-analysis. The genotype-phenotype analysis revealed significant correlations between CDKN2B-AS1 (rs2157719) and decreased intraocular pressure (β = -6.89 mmHg, P = 1.70E-04; dominant model) after multiple corrections. In addition, nominal correlation was observed between CDKN2B-AS1 (rs2157719) and optic nerve head blood flow (β = -0.54 and -0.67 arbitrary units (AU), P = 2.00E-02 and 1.39E-02), between SIX6 (rs33912345) and decreased total peripapillary retinal nerve fiber layer thickness (β = -2.16 and -2.82 μm, P = 4.68E-02 and 2.40E-02, additive and recessive model, respectively) and increased optic nerve head blood flow (β = 0.44 AU, P = 2.20E-02; additive model) and between GAS7 (rs9913911) and increased cup volume (β = 0.03 mm3, P = 4.60E-02) and mean cup depth (β = 0.03 mm3, P = 4.11E-02; additive model) and decreased pattern standard deviation (β = -0.87 dB, P = 2.44E-02; dominant model).
conclusionThe association between SNPs near GAS7 and POAG was found in Japanese patients for the first time. Clinical characterization of the risk variants is an important step toward understanding the pathology of the disease and optimizing treatment of patients with POAG.
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