ArticleAmerican journal of human genetics2002
Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 3 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 3 syntheses or guidelines pooled it, 138 citations in OpenAlex.
- Apolipoprotein E gene ε4ε4 is associated with elevated risk of primary open angle glaucoma in Asians: a meta-analysis.BMC medical genetics · 2014Pooled it
- An updated meta-analysis: apolipoprotein E genotypes and risk of primary open-angle glaucoma.Molecular vision · 2014Pooled it
- Role of the APOE ε2/ε3/ε4 polymorphism in the development of primary open-angle glaucoma: evidence from a comprehensive meta-analysis.PloS one · 2013Pooled it
- Exploring the role of apolipoprotein E gene promoter polymorphisms in susceptibility to normal-tension glaucoma in a Korean population.Scientific reports · 2024Article
- Normal-Tension Glaucoma and Potential Clinical Links to Alzheimer's Disease.Journal of clinical medicine · 2024Review
- Neurodegeneration in Alzheimer's disease and glaucoma: overlaps and missing links.Eye (London, England) · 2020Review
- Neurosteroids and oxysterols as potential therapeutic agents for glaucoma and Alzheimer's disease.Neuropsychiatry · 2018Article
- Association of MYOC and APOE promoter polymorphisms and primary open-angle glaucoma: a meta-analysis.International journal of clinical and experimental medicine · 2015Article
- Analysis of the expression and polymorphism of APOE, HSP, BDNF, and GRIN2B genes associated with the neurodegeneration process in the pathogenesis of primary open angle glaucoma.BioMed research international · 2015Article
- BDNF and HSP gene polymorphisms and their influence on the progression of primary open-angle glaucoma in a Polish population.Archives of medical science : AMS · 2014Article
- Association of apolipoprotein E-219T>G promoter polymorphism with primary open angle glaucoma in Turkish population.International journal of ophthalmology · 2014Article
- Regulation of intraocular pressure by soluble and membrane guanylate cyclases and their role in glaucoma.Frontiers in molecular neuroscience · 2014Review
- Glaucoma, Alzheimer disease and other dementia: a longitudinal analysis.Ophthalmic epidemiology · 2012Article
- Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.Eye (London, England) · 2012Review
- Keeping an eye on myocilin: a complex molecule associated with primary open-angle glaucoma susceptibility.Molecules (Basel, Switzerland) · 2011Review
- Complex genetic mechanisms in glaucoma: an overview.Indian journal of ophthalmology · 2011Review
- Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population.Molecular vision · 2010Article
- Molecular complexity of primary open angle glaucoma: current concepts.Journal of genetics · 2009Review
- Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients.Molecular vision · 2009Article
- Glaucoma-associated myocilin: a better understanding but much more to learn.Experimental eye research · 2009Review
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6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary open-angle glaucoma (POAG) is an optic neuropathy that has a high worldwide prevalence and that shows strong evidence of complex inheritance. The myocilin (MYOC) gene is the only one that has thus far been shown to have mutations in patients with POAG. Apolipoprotein E (APOE) plays an essential role in lipid metabolism, and the APOE gene has been involved in neuronal degeneration that occurs in Alzheimer disease (AD). Here, we report that two APOE-promoter single-nucleotide polymorphisms (SNPs) previously associated with AD also modify the POAG phenotype. APOE(-219G) is associated with increased optic nerve damage, as reflected by increased cup:disk ratio and visual field alteration. In addition, APOE(-491T), interacting at a highly significant level with an SNP in the MYOC promoter, MYOC(-1000G), is associated with increased intraocular pressure (IOP) and with limited effectiveness of IOP-lowering treatments in patients with POAG. Together, these findings establish APOE as a potent modifier for POAG, which could explain the linkage to chromosome 19q previously observed by use of a genome scan for this condition and an increased frequency of glaucoma in patients with AD. The findings also shed new light on potential mechanisms of optic nerve damage and of IOP regulation in POAG.
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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.