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Volumn 22, Issue 5, 2011, Pages 347-355

Genetics of primary glaucoma

Author keywords

congenital glaucoma; CYP1B1; genetics; infantile glaucoma; juvenile glaucoma; MYOC; open angle glaucoma

Indexed keywords

CYTOCHROME P450 1B1;

EID: 80051801918     PISSN: 10408738     EISSN: 15317021     Source Type: Journal    
DOI: 10.1097/ICU.0b013e32834922d2     Document Type: Review
Times cited : (74)

References (76)
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    • Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population
    • One patient with unilateral adult POAG had a missense NTF4 mutation in this study of 174 patients. The authors conclude heterozygous NTF4 mutation is not a major cause for adult POAG
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    • Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados
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    • Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
    • This genome-wide association study suggests genetic variations associated with adult POAG
    • Thorleifsson G, Walters GB, Hewitt AW, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet 2010;42:906-909. This genome-wide association study suggests genetic variations associated with adult POAG.
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    • Association of IL1A and IL1B loci with primary open angle glaucoma
    • This study suggests that the genomic region containing the IL1 gene cluster influences adult POAG pathogenesis mostly in normal-tension glaucoma patients in eastern India
    • Mookherjee S, Banerjee D, Chakraborty S, et al. Association of IL1A and IL1B loci with primary open angle glaucoma. BMC Med Genet 2010;11:99. This study suggests that the genomic region containing the IL1 gene cluster influences adult POAG pathogenesis mostly in normal-tension glaucoma patients in eastern India.
    • (2010) BMC Med Genet , vol.11 , pp. 99
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    • Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes
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    • Park, S.1    Jamshidi, Y.2    Vaideanu, D.3
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    • Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma
    • study's findings suggest genetic risk factors for adult POAG in a Chinese population
    • Fan BJ, Liu K, Wang DY, et al. Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2010;51:4110-4116. The study's findings suggest genetic risk factors for adult POAG in a Chinese population.
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    • Genome-wide association study of normal tension glaucoma: Common variants in SRBD1 and ELOVL5 contribute to disease susceptibility
    • Writing Committee for the Normal Tension Glaucoma Genetic Study Group of Japan Glaucoma Society, This study suggests genetic risk factors for Japanese normal-tension glaucoma patients
    • Writing Committee for the Normal Tension Glaucoma Genetic Study Group of Japan Glaucoma Society. Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. Ophthalmology 2010;117:1331-1338.e5. This study suggests genetic risk factors for Japanese normal-tension glaucoma patients.
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    • authors found an OPA1 genotype that conferred risk for normal-tension glaucoma in patients from the northeast of England
    • Yu-Wai-Man P, Stewart JD, Hudson G, et al. OPA1 increases the risk of normal but not high tension glaucoma. J Med Genet 2010;4:120-125. The authors found an OPA1 genotype that conferred risk for normal-tension glaucoma in patients from the northeast of England.
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    • Copy number variations (CNVs) and primary open angle glaucoma (POAG)
    • Epub ahead of print Very rare copy number variants were found in affected patients but not controls, and their locations were consistent with a role in ocular function
    • Davis L, Meyer K, Schindler E, et al. Copy number variations (CNVs) and primary open angle glaucoma (POAG). Invest Ophthalmol Vis Sci 2011. [Epub ahead of print] Very rare copy number variants were found in affected patients but not controls, and their locations were consistent with a role in ocular function.
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    • The path to open-angle glaucoma gene discovery: Endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness
    • authors provide evidence to support studying the genetics of endophenotypes to better understand the complex genetics of adult POAG. Although central corneal thickness is highly heritable, it may be the least useful surrogate endophenotype for the disease
    • Charlesworth J, Kramer PL, Dyer T, et al. The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness. Invest Ophthalmol Vis Sci 2010;51:3509-3514. The authors provide evidence to support studying the genetics of endophenotypes to better understand the complex genetics of adult POAG. Although central corneal thickness is highly heritable, it may be the least useful surrogate endophenotype for the disease.
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    • Dimasi DP, Burdon KP, Craig JE. The genetics of central corneal thickness. Br J Ophthalmol 2010;94:971-976. This review highlights the high heritability of central corneal thickness, a known risk factor for adult POAG.
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    • Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness
    • This study suggests that variants in collagen VIII may be associated with thin central corneal thickness in adult POAG
    • Desronvil T, Logan-Wyatt D, Abdrabou W, et al. Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. Mol Vis 2010;16:2185-2191. This study suggests that variants in collagen VIII may be associated with thin central corneal thickness in adult POAG.
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    • Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
    • This study suggests that variants in type I collagen genes are associated with central corneal thickness in normal individuals
    • Dimasi DP, Chen JY, Hewitt AW, et al. Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Hum Genet 2010;127:33-44. This study suggests that variants in type I collagen genes are associated with central corneal thickness in normal individuals.
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    • Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness
    • This genome-wide association study associates central corneal thickness with variation near ZNF469, the gene associated with the rare corneal fragility condition known as the brittle cornea syndrome
    • Lu Y, Dimasi DP, Hysi PG, et al. Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet 2010;6:e10009. This genome-wide association study associates central corneal thickness with variation near ZNF469, the gene associated with the rare corneal fragility condition known as the brittle cornea syndrome.
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    • New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8
    • This genome-wide association study associates additional loci with central corneal thickness in normal individuals
    • Vitart V, Bencic G, Hayward C, et al. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet 2010;19:4304-4311. This genome-wide association study associates additional loci with central corneal thickness in normal individuals.
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    • Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
    • This genome-wide association study associates mean optic disc area with loci in and around the gene ATOH7. Mutations in the gene were found in some patients with optic nerve hypoplasia
    • Macgregor S, Hewitt AW, Hysi PG, et al. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet 2010;19:2716-2724. This genome-wide association study associates mean optic disc area with loci in and around the gene ATOH7. Mutations in the gene were found in some patients with optic nerve hypoplasia.
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    • Macgregor, S.1    Hewitt, A.W.2    Hysi, P.G.3
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    • A genome-wide association study of optic disc parameters
    • authors report results of a genome-wide association study for vertical cup-todisc ratio that identifies several loci, including ATOH7
    • Ramdas WD, van Koolwijk LM, Ikram MK, et al. A genome-wide association study of optic disc parameters. PLoS Genet 2010;6:e1000978. The authors report results of a genome-wide association study for vertical cup-todisc ratio that identifies several loci, including ATOH7.
    • (2010) PLoS Genet , vol.6
    • Ramdas, W.D.1    Van Koolwijk, L.M.2    Ikram, M.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.