ArticleJournal of the National Medical Association2007
Inherited, familial and sporadic primary open-angle glaucoma.
Article in Journal of the National Medical Association, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.Molecular vision · 2012Pooled it
- Identification of a chromatin regulator signature and potential candidate drugs for primary open-angle glaucoma.Epigenomics · 2025Article
- Article
- Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.Frontiers in genetics · 2022Article
- TET-dependent GDF7 hypomethylation impairs aqueous humor outflow and serves as a potential therapeutic target in glaucoma.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort.Journal of ophthalmology · 2017Article
- Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.Molecular vision · 2013Article
- Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis.PloS one · 2012Article
- Comprehensive analysis of myocilin variants in east Indian POAG patients.Molecular vision · 2012Article
- Association of IL1A and IL1B loci with primary open angle glaucoma.BMC medical genetics · 2010Article
- Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population.BMC genetics · 2010Article
- Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.BMC medical genetics · 2009Article
- Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma.Molecular vision · 2008Article
- Extent of glaucomatous damage on the first presentation.Oman journal of ophthalmologyArticle
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledThe U.S. surgeon general has recently launched a campaign to promote the awareness of the medical value of family history. Further attention should be paid to familial aggregation. Accordingly, we suggest that primary open-angle glaucoma (POAG) be classified into inherited, familial and sporadic categories. The three classes of POAG differ not only in inheritance pattern and familial aggregation but also in methodology and outcome of gene mapping. Inherited POAG follows Mendelian inheritance and has been linked to seven chromosomal loci to date by linkage analysis. Familial POAG does not show a clear pattern of Mendelian inheritance and is typically studied by sib-pair analysis and family-based association analysis, although the results often require replication in multiple samples. Interestingly, many sporadic POAG cases carry known POAG-causing mutations, suggesting genetic predisposition as well. Based on published data, we estimated that inherited and familial POAG cases may account for approximately 72% of all POAG cases. We further formulated a mathematic model to estimate disease prevalence and mutation frequency taking both ethnic background and familial aggregation into consideration.
conclusionPOAG appears to be mainly caused by genetic predisposition in interaction with other risk factors such as age. The suggested classification of POAG may serve as a useful guide in clinical practice and genetic studies where ethnic background and familial aggregation must be taken into consideration.
Indexed as
Identifiers
17534014PMC2576058W1598181185What 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.