Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene

Póvoa, Cristine Araújo; Malta, Roberto Freire Santiago; Rezende, Mariana de Moraes; Melo, Karla Fabiana Santana de; Giannella-Neto, Daniel

doi:10.1590/s0004-27492006000300002

Cited by 11 publications

(12 citation statements)

References 26 publications

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“…A study of Brazilian patients by Povoa et al found the MYOC variant Cys433Arg in 3.1% of POAG patients and in 5.2% of POAG patients with a family history of the disease 17. In a similar study on 110 Spanish subjects with POAG, Lopez-Martinez and co-workers found that 2.7% had causative MYOC variants including Gln368Stop, Ala445Val, and Tyr479His 19.…”

Section: Discussionmentioning

confidence: 93%

“…Disease-associated MYOC variants have been reported in 3-5% of POAG cases from many different populations,11,13-15 including the Brazilian and Spanish populations 17,19. This study was undertaken to determine the role of MYOC and OPTN variants in POAG in the Hispanic population of Mexican descent.…”

Section: Discussionmentioning

confidence: 99%

“…Little is known about the genetic etiology of POAG in the Hispanic population. Although MYOC and OPTN have been sequenced in the Brazilian and Spanish populations the role of these genes in POAG in Hispanics of the Southwestern United States has not been reported to date 17-19. Herein we report the contribution of MYOC and OPTN coding variants to POAG risk in a dataset of Hispanics of Mexican descent.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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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“…Myocilin is a member of the olfactomedin protein family with an N-terminal leucine zipper motif and a large C-terminal olfactomedin homology domain (Box 2). Association studies and analyses of pedigrees have shown that mutations in myocilin, especially its olfactomedin domain, are associated with a substantial fraction (>10 %) of juvenile onset glaucoma patients [2,6,7] and a smaller portion (~4%) of adult POAG cases in African-American [8], Canadian [9], Indian [10], Japanese [11], Greek [12], South African [13], Brazilian [14], Peruvian [15], Ghanaian [16], Swiss [17], and Dutch [18] populations. However, in some populations, including Moroccan [19], Middle Eastern [20], and Finnish populations [21], case-control studies failed to identify POAG-associated polymorphisms in myocilin.…”

Section: Glaucoma and Myocilinmentioning

confidence: 99%

A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response

Anholt

Carbone

2013

Trends in Molecular Medicine

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Primary open angle glaucoma (POAG) is a common late-onset neurodegenerative disease. Ocular hypertension represents a major risk factor, but POAG etiology remains poorly understood. Some cases of early-onset congenital glaucoma and adult POAG are linked to mutations in myocilin, a secreted protein of poorly defined function. Transgenic overexpression of myocilin in Drosophila and experiments in mice and human populations implicate the unfolded protein response (UPR) in the pathogenesis of glaucoma. We postulate that compromised ability of the UPR to eliminate misfolded mutant or damaged proteins, including myocilin, causes endoplasmic reticulum stress, resulting in functional impairment of trabecular meshwork cells that regulate intraocular pressure. This mechanism of POAG is reminiscent of other age-dependent neurodegenerative diseases that involve accumulation of protein aggregates.

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“…Glaucoma is an optic neurodegenerative disease and is the second leading cause of bilateral blindness worldwide, after cataracts (Povoa et al, 2006). Primary open angle glaucoma (POAG) is the most common type, accounting for over half of all cases (Acharya et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

Primary open angle glaucoma was not found to be associated with p53 codon 72 polymorphism in a Brazilian cohort

Silva¹,

Arruda²,

Rodrigues³

et al. 2009

Genet. Mol. Res.

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ABSTRACT. Primary open angle glaucoma (POAG) is the most common type of glaucoma. The p53 codon 72 Arg-Pro (CGC to CCC) polymorphism of exon 4 affects various biological properties; recently, it was reported that this polymorphism affects the ability to induce apoptosis in vitro. Various genotypes have been found to be significantly associated with POAG. We examined the distribution of this polymorphism in 104 unrelated POAG patients and in 58 normal healthy individuals without history of POAG at the Pronto Clínica de Olhos in Goiânia, Brazil. The controls were recruited among individuals undergoing ophthalmological examination. Their genomic DNA was analyzed for p53 gene codon 72 polymorphism by polymerase chain reaction. The Arg72 allele was more common than the Pro72 allele in both groups. There was no significant difference in the distribution of the codon 72 polymorphism between groups (P = 0.3311). The genotype distribution in the POAG group was 23.07 Arg homozygote, 75 heterozygote, and 1.93% Pro homozygote, while in the control group it was 31.04 Arg homozygote, 68.96 heterozygote, and 0% Pro homozygote. We concluded that the p53 codon 72 Arg/Pro polymorphism is not associated with glaucoma in Brazilian patients.

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Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene

Cited by 11 publications

References 26 publications

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

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

A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response

Primary open angle glaucoma was not found to be associated with p53 codon 72 polymorphism in a Brazilian cohort

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