Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

Ariani, Francesca; Longo, Ilaria; Frezzotti, Paolo; Pescucci, Chiara; Mari, Francesca; Caporossi, Aldo; Frezzotti, R.; Renieri, Alessandra

doi:10.1007/s00417-005-0079-3

Cited by 10 publications

(7 citation statements)

References 18 publications

(19 reference statements)

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“…Although in FALS cases we could not prove the segregation of mutations with the disease, the six variants reported in this study had not been described before either in the large cohort of POAG patients and controls screened so far (more than 6800 subjects of different ethnic origins, including at least 1600 Caucasian individuals)10 25 28 or in our 280 Italian controls.…”

Section: Discussionmentioning

confidence: 56%

“…It is very unlikely that our OPTN -mutated cases represent preclinical POAG patients and they are only affected coincidentally by ALS. In fact, given that the POAG prevalence in the adult Italian population is about 2%,28 that hereditary POAG accounts for 50% of cases9 and that mutations in the OPTN gene were found to be responsible for about 16% of familial POAG,26 we would expect to find about 0.16% of ALS patients with a POAG phenotype associated with OPTN . By contrast, in our cohort, we have identified 2% of ALS cases (six patients) with mutations in the OPTN gene.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Tiloca

Pensato

et al. 2011

Journal of Neurology, Neurosurgery & Psychiatry

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Section: Discussionmentioning

confidence: 56%

Section: Discussionmentioning

confidence: 99%

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Tiloca

Pensato

et al. 2011

Journal of Neurology, Neurosurgery & Psychiatry

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“…Clinically, mutations in OPTN lead to NTG. This contrasts sharply with patients who have MYOC - associated POAG, which is consistently hypertensive (Ariani et al, 2006; Charlesworth et al, 2006; Hauser et al, 2006b; Rezaie et al, 2002). Among all OPTN mutations, E50K has been most clearly shown to cause glaucoma (Aung et al, 2005).…”

Section: Genetic Linkage Analyses Of Poagmentioning

confidence: 63%

Major review: Molecular genetics of primary open-angle glaucoma

Liu

Allingham

2017

Experimental Eye Research

124

106

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Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), the most common type, is a complex inherited disorder that is characterized by progressive retinal ganglion cell death, optic nerve head excavation, and visual field loss. The discovery of a large, and growing, number of genetic and chromosomal loci has been shown to contribute to POAG risk, which carry implications for disease pathogenesis. Differential gene expression analyses in glaucoma-affected tissues as well as animal models of POAG are enhancing our mechanistic understanding in this common, blinding disorder. In this review we summarize recent developments in POAG genetics and molecular genetics research.

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“…Two variants, T34T and c.553-5T>C, have previously been reported to be neutral polymorphisms 12,18,21,27,28. The M98K variant was initially reported to be associated with POAG risk, but the results of subsequent studies are conflicting 1,12,16,19,21,29-33. c.374-194_374-193insACAC has not been reported in the context of previous glaucoma studies but is listed in dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP/).…”

Section: Discussionmentioning

confidence: 99%

Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG

McDonald

Abramson

Beltran³

et al. 2010

J Hum Genet

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Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case/control study of unrelated POAG cases and non-glaucomatous controls in a population of Hispanics of Mexican descent. Ascertainment criteria for POAG included the presence of glaucomatous optic neuropathy with associated visual field loss and the absence of secondary causes of glaucoma. Controls had normal optic nerves, visual fields, and IOP. All coding exons of MYOC and OPTN were sequenced. The dataset consisted of 88 POAG cases and 93 controls. A novel nonsynonymous coding variant (R7H) in the first exon of MYOC was identified. Other identified variants in MYOC and OPTN have been previously described and do not appear to contribute to POAG risk. This is the first comprehensive study of MYOC and OPTN in Hispanics of Mexican descent with POAG. Neither MYOC nor OPTN sequence variants appear to play a major role in the etiology of POAG in this population.

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Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

Abstract: In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG.

Cited by 10 publications

References 18 publications

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Major review: Molecular genetics of primary open-angle glaucoma

Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG

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