ArticleMolecular vision2010
Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 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
- No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.Molecular vision · 2012Pooled it
- Elevated Intraocular Pressure and Glaucomatous Optic Neuropathy: Genes to Disease Mechanisms, Therapeutic Drugs, and Gene Therapies.Pharmaceuticals (Basel, Switzerland) · 2023Review
- Genetic association of ANGPT2 with primary open-angle glaucoma.Eye and vision (London, England) · 2022Article
- Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?Journal of clinical medicine · 2022Review
- The Role of Neurotrophin-4/Forkhead Box L1 in the Development of Nonsmall-Cell Lung Cancer.Contrast media & molecular imaging · 2022Article
- The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.International journal of molecular sciences · 2020Review
- Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma.PloS one · 2020Article
- Fully human agonist antibodies to TrkB using autocrine cell-based selection from a combinatorial antibody library.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Research progress on human genes involved in the pathogenesis of glaucoma (Review).Molecular medicine reports · 2018Review
- Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.Scientific reports · 2018Article
- Glaucoma Pathogenesis and Neurotrophins: Focus on the Molecular and Genetic Basis for Therapeutic Prospects.Current neuropharmacology · 2018Review
- Major review: Molecular genetics of primary open-angle glaucoma.Experimental eye research · 2017Review
- An Updated Review on the Genetics of Primary Open Angle Glaucoma.International journal of molecular sciences · 2015Review
- Anticipation, anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation.International journal of ophthalmology · 2014Article
- Genetics of primary open angle glaucoma.Japanese journal of ophthalmology · 2014Review
- Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.Eye (London, England) · 2012Review
- Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis.PloS one · 2012Article
- Screening of candidate genes for primary open angle glaucoma.Molecular vision · 2012Article
- Evaluation of NTF4 as a causative gene for primary open-angle glaucoma.Molecular vision · 2012Article
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
purposeNeurotrophin-4 protein (NT-4) plays a role in the protection of retinal ganglion cells by activating tyrosine kinase B (TrkB) receptors. A recent study identified mutations within the neurotrophin-4 (NTF4) gene to account for 1.7% of primary open-angle glaucoma (POAG) in Europeans. The aim of this study was to investigate the frequency of NTF4 mutations in Chinese POAG patients.
methodsOne hundred-seventy-four Chinese subjects with POAG and 91 normal Chinese subjects were recruited. POAG was defined by the presence of glaucomatous optic neuropathy, open angles on gonioscopy, and absence of secondary causes of glaucoma. The single coding exon of NTF4 was PCR amplified and subjected to bidirectional sequencing in all subjects.
resultsThe mean age of POAG patients was 66.0+/-13.0 years (range 25-96 years) and that of controls was 67.1+/-4.6 years (range 60-85 years). We identified a novel NTF4 missense mutation substituting leucine by serine at codon 113 (Leu113Ser) caused by a c.338T>C mutation in a single patient with unilateral POAG, who presented with a baseline intraocular pressure of 25 mmHg, a vertical cup-to-disc ratio of 0.9 and an inferior hemifield defect in the affected eye. Structural analysis indicated that the Leu113Ser mutation is likely to alter the NT-4 protein structure near the TrkB binding site and disrupts the formation of the NT-4-TrkB complex required for the activation of TrkB.
conclusionsIdentification of a single mutation in our study suggests that NTF4 mutations are a rare cause of POAG (0.6%, 95%CI 0.02%-3.16%) in Chinese people.
Indexed as
Identifiers
20806036PMC2927376W2233365585What 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.