Glaucoma genetics, present and future

Friedman, James S.; Walter, Michael A.

doi:10.1034/j.1399-0004.1999.550201.x

Cited by 24 publications

(12 citation statements)

References 48 publications

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“…It is recognized that POAG is a multifactorial disorder involving the role of multiple genes. 1 To date, mutations in three genes (myocilin, 2 optineurin, 3 and WD repeat domain 36 4 ) and several susceptibility gene polymorphisms, such as optic atrophy 1 5 and estrogen receptor beta, 6 have been reported to contribute to the development of POAG. However, these mutations and polymorphisms do not account for all POAG cases, and other unknown genetic factors are considered to contribute to the development of POAG.…”

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confidence: 99%

Association betweenSRBD1andELOVL5Gene Polymorphisms and Primary Open-Angle Glaucoma

Mabuchi¹,

Sakurada²,

Kashiwagi³

et al. 2011

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. The S1 RNA binding domain 1 (SRBD1) and elongation of long-chain fatty acids family member 5 (ELOVL5) have been reported to be susceptibility genes for early-onset normaltension glaucoma (NTG). The present study we conducted to assess whether these genes were associated with primary open-angle glaucoma (POAG), including late-onset NTG and high-tension glaucoma (HTG). METHODS. Three hundred seventy Japanese patients with POAG, including 158 NTG and 212 HTG patients and 191 control subjects were analyzed for SRBD1 (rs3213787) and ELOVL5 (rs735860) gene polymorphisms. RESULTS. The A allele frequencies of rs3213787 were significantly higher in NTG (98.4%, P ϭ 0.0003) and HTG (97.6%, P ϭ 0.0013) patients than in the control subjects (92.7%). The A allele frequency was significantly higher (P ϭ 0.014), even though the NTG patients were limited to those diagnosed at ages older than 60 years. The POAG patients with the CC or CT risk genotypes of rs735860 were significantly older (P ϭ 0.032, analysis of variance, P ϭ 0.043 and P ϭ 0.015, respectively) than were the POAG patients with the TT genotype, and the frequency of a family history of glaucoma in POAG patients with the CC risk genotype was significantly higher (P ϭ 0.015) than that in POAG patients with the TT genotype. CONCLUSIONS. SRBD1 gene polymorphism is associated with the development of HTG as well as NTG, including late-onset NTG. Typical POAG associated with ELOVL5 gene polymorphism may have a late rather than an early onset. (Invest Ophthalmol Vis Sci. 2011;52:4626 -4629) G laucoma includes a group of eye disorders characterized by visual field defects, apoptosis of the retinal ganglion cells, and progressive degeneration of the optic nerve. Primary open-angle glaucoma (POAG) represents the most prevalent form of glaucoma and is clinically classified as high-tension glaucoma (HTG), in which elevated intraocular pressure (IOP) is a major feature, and normal-tension glaucoma (NTG), in which IOP is consistently within the statistically normal population range. It is recognized that POAG is a multifactorial disorder involving the role of multiple genes. 1 To date, mutations in three genes (myocilin, 2 optineurin, 3 and WD repeat domain 36 4 ) and several susceptibility gene polymorphisms, such as optic atrophy 1 5 and estrogen receptor beta, 6 have been reported to contribute to the development of POAG. However, these mutations and polymorphisms do not account for all POAG cases, and other unknown genetic factors are considered to contribute to the development of POAG. In the Japanese population, the prevalence of NTG is higher than in other ethnic populations (92% of Japanese patients with POAG have NTG), 7 and it is important to elucidate the genetic factors that are responsible for the development of NTG.To identify susceptibility genes for early-onset NTG, we previously performed a genome-wide association study with more than 500,000 single-nucleotide polymorphisms (SNPs; GeneChip Human Mapping 500K Array Set; Affymetrix Inc., Santa Clara, CA), ...

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confidence: 99%

Association betweenSRBD1andELOVL5Gene Polymorphisms and Primary Open-Angle Glaucoma

Mabuchi¹,

Sakurada²,

Kashiwagi³

et al. 2011

Invest. Ophthalmol. Vis. Sci.

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“…3 In addition to high IOP, the risk factors for development of glaucoma include older age, race (more prevalent in blacks), positive family history, high myopia, and the presence of diabetes or hypertension. 4 Genetic factors also play a major role in the etiology of POAG, 5 and, to date, six chromosomal loci have been identified that are associated with POAG. The first gene to be characterized was the trabecular meshwork inducible glucocorticoid response (TIGR) gene on the long arm of chromosome 1.…”

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confidence: 99%

Variants in Optineurin Gene and Their Association with Tumor Necrosis Factor-α Polymorphisms in Japanese Patients with Glaucoma

Funayama

Ishikawa

Ohtake

et al. 2004

Invest. Ophthalmol. Vis. Sci.

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“…[1][2][3] Glaucoma is the leading cause of irreversible blindness in the world, affecting approximately 67 million people worldwide in all age groups and populations, of which 6.7 million are bilaterally blind. 4 The heritable nature of the disease offers the potential for molecular genetic analyses to be used to determine the underlying mechanisms, and this knowledge is central to improving clinical outcomes.…”

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confidence: 99%