The genetics of primary open angle glaucoma

Booth, Adam; Churchill, Amanda J.; Anwar, Rashida; Ménage, M J; Markham, Alexander F.

doi:10.1136/bjo.81.5.409

Cited by 13 publications

(7 citation statements)

References 50 publications

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“…5 Genetic factors have been regarded as a critical risk factor in the development of glaucoma. [6][7][8] The following genes have been reported to be associated with glaucoma including: myocilin (MYOC), 9 optineurin (OPTN), 10 WD repeat domain 36 (WDR36), 11,12 neurotrophin 4 (NTF4), 13 optic atrophy 1 (OPA1), 14,15 cytochrome P450, family 1, subfamily B (CYP1B1), 16 and latent transforming growth factor-beta binding protein 2 (LTBP2). 17 To date, the mutations of known genes only accounted for about 5% patients with POAG, 18 and their influences on patients with PACG were controversial.…”

Section: Introductionmentioning

confidence: 99%

Mutation Analysis of Seven Known Glaucoma-Associated Genes in Chinese Patients With Glaucoma

Huang

Wen

Guo

et al. 2014

Invest. Ophthalmol. Vis. Sci.

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Twenty-two mutations in MYOC, WDR36, OPA1, and OPTN were detected in 25 of the 683 patients with primary glaucoma, including nine MYOC mutations in 11 patients, nine WDR36 mutations in 11 patients, three OPA1 mutations in 3 patients, and one OPTN mutation in a patient who also carried a MYOC mutation. Eight mutations in MYOC, WDR36, and OPA1 in 8 of the 343 PACG patients are of uncertain significance and need to be analyzed further.

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Section: Introductionmentioning

confidence: 99%

Mutation Analysis of Seven Known Glaucoma-Associated Genes in Chinese Patients With Glaucoma

Huang

Wen

Guo

et al. 2014

Invest. Ophthalmol. Vis. Sci.

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“…5 In humans, six different genes and chromosomal points have been implicated in glaucoma to some extent and were initially mapped to GLC1A , GLC1B , GLC1C , GLC1D , GLC1E , and GLC1F . [12][13][14][15][16][17][18][19][20][21][22][23][24] Both early-and late-onset glaucoma, inherited as dominant and recessive traits, have been associated with the MYOC gene in human.…”

Section: Introductionmentioning

confidence: 99%

Aqueous humor myocilin protein levels in normal, genetic carriers, and glaucoma Beagles

MacKay¹,

Källberg²,

Gelatt³

2008

Veterinary Ophthalmology

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“…Genetic factors play an important part in the aetiology of primary open angle glaucoma (POAG) 1. It has long been recognised that relatives of patients with POAG have an increased risk of developing the condition themselves compared with the general population.…”

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confidence: 99%

Genetic screening in a large family with juvenile onset primary open angle glaucoma

Booth

Anwar²,

Chen³

et al. 2000

British Journal of Ophthalmology

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Aims-A number of genetic loci have been implicated in the pathogenesis of primary open angle glaucoma (POAG). The aim of this study was to identify the genetic cause of POAG in a large Scottish family and, if possible, oVer genetic screening and advice to family members. Methods-Family members were examined to determine their disease status. Base excision sequence scanning was carried out in order to test for the presence of a POAG causing mutation at known genetic loci. Direct DNA sequencing was performed in order to determine the mutation sequence. Results-All family members of known aVected disease status and two family members of unknown disease status were found to have a mutation in the TIGR gene. The mutation resulted in the substitution of a glycine residue with an arginine residue at codon 252 (Gly252Arg). No other sequence variations were present in any members of the family. Conclusion-The Gly252Arg mutation in the TIGR gene results in the development of POAG in this family. It was possible to identify younger, currently unaVected, members of the family who carry the mutation and who are therefore at a very high risk of developing POAG themselves. This is the first demonstration that Gly252Arg can be a disease causing mutation rather than a benign polymorphism. The possible pathogenic mechanisms and wider implications of the mutation are considered. (Br J Ophthalmol 2000;84:722-726)

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The genetics of primary open angle glaucoma

Cited by 13 publications

References 50 publications

Mutation Analysis of Seven Known Glaucoma-Associated Genes in Chinese Patients With Glaucoma

Mutation Analysis of Seven Known Glaucoma-Associated Genes in Chinese Patients With Glaucoma

Aqueous humor myocilin protein levels in normal, genetic carriers, and glaucoma Beagles

Genetic screening in a large family with juvenile onset primary open angle glaucoma

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