ArticleProceedings of the National Academy of Sciences of the United States of America2009
Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 4 of them syntheses that pooled it.
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Who cites it
52 citing papers in PubMed, 4 syntheses or guidelines pooled it, 115 citations in OpenAlex.
- Effect of genotype on individual response to the pharmacological treatment of glaucoma: a systematic review and meta-analysis.Biology direct · 2023Pooled it
- A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.Nature communications · 2018Pooled it
- Pooled it
- Common genetic determinants of intraocular pressure and primary open-angle glaucoma.PLoS genetics · 2012Pooled it
- Endophenotype Guided Genome-Wide Association Study to Enhance Genetic Risk Prediction of Primary Open-Angle Glaucoma in African Ancestry Populations.medRxiv : the preprint server for health sciences · 2025Article
- Article
- How Genome-Wide Association Studies Transform Care for Patients at Risk of Glaucoma.Expert review of ophthalmology · 2024Article
- Identification and functional validation of an enhancer variant in the 9p21.3 locus associated with glaucoma risk and elevated expression of p16Aging cell · 2023Article
- Predicting the germline dependence of hematuria risk in prostate cancer radiotherapy patients.Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology · 2023Article
- Identification and functional validation of an enhancer variant in the 9p21.3 locus associated with glaucoma risk and elevated expression ofbioRxiv : the preprint server for biology · 2023Article
- Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.Biology direct · 2021Article
- Review
- Article
- Differential DNA methylation patterns in human Schlemm's canal endothelial cells with glaucoma.Molecular vision · 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
- Plexin domain containing 2 (PLXDC2) gene polymorphism rs7081455 may not influence POAG risk in a Saudi cohort.BMC research notes · 2018Article
- Genetic Risk Factors for Glaucoma and Exfoliation Syndrome Identified by Genome-wide Association Studies.Current neuropharmacology · 2018Review
- Major review: Molecular genetics of primary open-angle glaucoma.Experimental eye research · 2017Review
- Polymorphism rs547984 on human chromosome 1q43 is not associated with primary open angle glaucoma in a Saudi cohort.Journal of negative results in biomedicine · 2017Article
- Efficient and reliable establishment of lymphoblastoid cell lines by Epstein-Barr virus transformation from a limited amount of peripheral blood.Scientific reports · 2017Article
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary open-angle glaucoma (POAG) is the major type of glaucoma. To discover genetic markers associated with POAG, we examined a total of 1,575 Japanese subjects in a genome-wide association study (stage 1) and a subsequent study (stage 2). Both studies were carried out at a single institution. In the stage 1 association study, we compared SNPs between 418 POAG patients and 300 control subjects. First, low-quality data were eliminated by a stringent filter, and 331,838 autosomal SNPs were selected for analysis. Poorly clustered SNPs were eliminated by a visual assessment, leaving 255 that showed a significant deviation (P < 0.001) in the allele frequency comparison. In the stage 2 analysis, we tested these 255 SNPs for association in DNA samples from a separate group of 409 POAG and 448 control subjects. High-quality genotype data were selected and used to calculate the combined P values of stages 1 and 2 by the Mantel-Haenszel test. These analyses yielded 6 SNPs with P < 0.0001. All 6 SNPs showed a significant association (P < 0.05) in stage 2, demonstrating a confirmed association with POAG. Although we could not link the SNPs to the annotated gene(s), it turned out that we have identified 3 genetic loci probably associated with POAG. These findings would provide the foundation for future studies to build on, such as for the metaanalysis, to reveal the molecular mechanism of the POAG pathogenesis.
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