ArticleHuman genetics2005
Evidence for a novel glaucoma locus at chromosome 3p21-22.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Pooled it
- Major review: Molecular genetics of primary open-angle glaucoma.Experimental eye research · 2017Review
- Article
- Genetics of primary open angle glaucoma.Japanese journal of ophthalmology · 2014Review
- A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci.PloS one · 2013Article
- Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.Molecular vision · 2012Article
- Current gene discovery strategies for ocular conditions.Investigative ophthalmology & visual science · 2011Review
- Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.Human molecular genetics · 2011Article
- Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort.Molecular vision · 2011Article
- Complex genetic mechanisms in glaucoma: an overview.Indian journal of ophthalmology · 2011Review
- Copy number variations and primary open-angle glaucoma.Investigative ophthalmology & visual science · 2011Article
- Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.PloS one · 2011Article
- Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses.Molecular vision · 2010Article
- Molecular complexity of primary open angle glaucoma: current concepts.Journal of genetics · 2009Review
- The genetics of primary open-angle glaucoma: a review.Experimental eye research · 2009Review
- Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma.Molecular vision · 2008Article
- Contributions of MYOC and CYP1B1 mutations to JOAG.Molecular vision · 2008Article
- Multipoint approximations of identity-by-descent probabilities for accurate linkage analysis of distantly related individuals.American journal of human genetics · 2008Article
- Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese.Molecular vision · 2008Article
- Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.Molecular vision · 2007Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary open-angle glaucoma (POAG) is one of the leading causes of blindness in the world. It is a clinically variable group of diseases with the majority of cases presenting as the late onset adult type. Several chromosomal loci have been implicated in disease aetiology, but causal mutations have only been identified in a small proportion of glaucoma. We have previously described a large six-generation Tasmanian family with POAG exhibiting genetic heterogeneity. In this family, approximately one third of affected individuals presented with a glutamine-368-STOP (Q368STOP) mutation in the myocilin gene. We now use a Markov Chain Monte Carlo (MCMC) method to identify a second disease region in this family on the short arm of chromosome 3. This disease locus was initially mapped to the marker D3S1298 and a subsequent minimum disease region of 9 cM between markers D3S1298 and D3S1289 was identified through additional mapping. The region did not overlap with any previously described locus for POAG. Using a multiplicative relative risk model, we identified a positive association between this region and the Q368STOP mutation of myocilin on chromosome 1 in affected individuals. These findings provide evidence of a new autosomal dominant glaucoma locus on the short arm of chromosome 3.
Indexed as
Identifiers
What 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.