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Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010;465:223-226. In addition to being an infrequent cause of adult POAG, mutations in optineurin can cause the neurological disease amyotrophic lateral sclerosis.
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This editorial highlights the fact that mutations underlying eye disease can also have systemic manifestations
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Mackey DA, Trounce I. Genetics: optic nerve genetics - more than meets the eye. Nat Rev Neurol 2010;6:357-358. This editorial highlights the fact that mutations underlying eye disease can also have systemic manifestations.
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Hauser MA, Allingham RR, Linkroum K, et al. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2006;47:2542-2546. (Pubitemid 351639839)
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47
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The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stressresponse pathway
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Skarie JM, Link BA. The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stressresponse pathway. Hum Mol Genet 2008;17:2474-2485.
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Skarie, J.M.1
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48
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Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice
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This study provides experimental evidence for how WDR36 mutations can lead to glaucoma
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Chi ZL, Yasumoto F, Sergeev Y, et al. Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice. Hum Mol Genet 2010;19:3806-3815. This study provides experimental evidence for how WDR36 mutations can lead to glaucoma.
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Chi, Z.L.1
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Pasutto, F.1
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Mardin, C.Y.3
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50
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No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma
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author reply 500. Heterozygous NTF4 mutation is not a cause for primary adult-onset open-angle glaucoma in this large cohort
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Liu Y, Liu W, Crooks K, et al. No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. Am J Hum Genet 2010;86:498-499; author reply 500. Heterozygous NTF4 mutation is not a cause for primary adult-onset open-angle glaucoma in this large cohort.
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Am J Hum Genet
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Liu, Y.1
Liu, W.2
Crooks, K.3
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Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population
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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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Vithana EN, Nongpiur ME, Venkataraman D, et al. Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population. Mol Vis 2010;16:1640-1645. 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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Mol Vis
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Vithana, E.N.1
Nongpiur, M.E.2
Venkataraman, D.3
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52
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73049105367
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Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma
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This study suggests an association between CYP1B1 mutations and adult POAG
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Lopez-Garrido MP, Blanco-Marchite C, Sanchez-Sanchez F, et al. Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma. Clin Genet 2010;77:70-78. This study suggests an association between CYP1B1 mutations and adult POAG.
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53
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Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma
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This study suggests an association between CYP1B1 mutations and adult POAG
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Pasutto F, Chavarria-Soley G, Mardin CY, et al. Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2010;51:249-254. This study suggests an association between CYP1B1 mutations and adult POAG.
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Invest Ophthalmol Vis Sci
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Allingham RR, Wiggs JL, Hauser ER, et al. Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthalmol Vis Sci 2005;46:2002-2005.
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Nemesure B, Jiao X, He Q, et al. A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. Hum Genet 2003;112:600-609. (Pubitemid 36869055)
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Schaffer, A.A.11
Hejtmancik, J.F.12
Jiang, L.13
Sarma, K.14
Manthani, K.15
Bannister, A.16
Tangaraj, M.17
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Barrow, C.19
Holder, A.20
Schachat, A.P.21
Alexander, J.A.22
Phillips, D.23
Ward-Strozykowski, R.24
Hassell, T.25
Fraser, H.26
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56
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Genome-wide scan for adult onset primary open angle glaucoma
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Wiggs JL, Allingham RR, Hossain A, et al. Genome-wide scan for adult onset primary open angle glaucoma. Hum Mol Genet 2000;9:1109-1117. (Pubitemid 30216017)
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DelBono, E.A.6
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57
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Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population
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Nakano M, Ikeda Y, Taniguchi T, et al. Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. Proc Natl Acad Sci USA 2009;106:12838-12842.
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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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Jiao X, Yang Z, Yang X, et al. Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. Proc Natl Acad Sci USA 2009;106:17105-17110.
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Jiao, X.1
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Yang, X.3
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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
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This genome-wide association study suggests genetic variations associated with adult POAG
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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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Nat Genet
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Thorleifsson, G.1
Walters, G.B.2
Hewitt, A.W.3
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60
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77953648392
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Association of IL1A and IL1B loci with primary open angle glaucoma
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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
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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.
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BMC Med Genet
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Mookherjee, S.1
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Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes
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Park S, Jamshidi Y, Vaideanu D, et al. Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. Invest Ophthalmol Vis Sci 2009;50:1522-1530.
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Invest Ophthalmol Vis Sci
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Park, S.1
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Vaideanu, D.3
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62
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Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma
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study's findings suggest genetic risk factors for adult POAG in a Chinese population
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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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Invest Ophthalmol Vis Sci
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Fan, B.J.1
Liu, K.2
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63
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77954349639
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Genome-wide association study of normal tension glaucoma: Common variants in SRBD1 and ELOVL5 contribute to disease susceptibility
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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
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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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Ophthalmology
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64
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SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma
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DOI 10.1167/iovs.06-0196
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Funayama T, Mashima Y, Ohtake Y, et al. SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma. Invest Ophthalmol Vis Sci 2006;47:5368-5375. (Pubitemid 46723787)
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Investigative Ophthalmology and Visual Science
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Funayama, T.1
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Yasuda, N.6
Fukuchi, T.7
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Hotta, Y.9
Shimada, N.10
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65
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77349113820
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OPA1 increases the risk of normal but not high tension glaucoma
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authors found an OPA1 genotype that conferred risk for normal-tension glaucoma in patients from the northeast of England
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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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J Med Genet
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Yu-Wai-Man, P.1
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Hudson, G.3
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66
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Copy number variations (CNVs) and primary open angle glaucoma (POAG)
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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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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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Invest Ophthalmol Vis Sci
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Davis, L.1
Meyer, K.2
Schindler, E.3
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67
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77955862819
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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
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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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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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(2010)
Invest Ophthalmol Vis Sci
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Charlesworth, J.1
Kramer, P.L.2
Dyer, T.3
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68
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The genetics of central corneal thickness
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This review highlights the high heritability of central corneal thickness, a known risk factor for adult POAG
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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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Br J Ophthalmol
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Dimasi, D.P.1
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Craig, J.E.3
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69
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78149485806
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Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness
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This study suggests that variants in collagen VIII may be associated with thin central corneal thickness in adult POAG
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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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Mol Vis
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Desronvil, T.1
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70
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Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
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This study suggests that variants in type I collagen genes are associated with central corneal thickness in normal individuals
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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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Hum Genet
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Dimasi, D.P.1
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Hewitt, A.W.3
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71
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Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness
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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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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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PLoS Genet
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Lu, Y.1
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72
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New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8
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This genome-wide association study associates additional loci with central corneal thickness in normal individuals
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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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Vitart, V.1
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73
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Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
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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, 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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Hum Mol Genet
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Macgregor, S.1
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A genome-wide association study of optic disc parameters
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authors report results of a genome-wide association study for vertical cup-todisc ratio that identifies several loci, including ATOH7
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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.
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Rotimi CN, Chen G, Adeyemo AA, et al. Genomewide scan and fine mapping of quantitative trait loci for intraocular pressure on 5q and 14q in west Africans. Invest Ophthalmol Vis Sci 2006;47:3262-3267. (Pubitemid 351639685)
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Eghan Jr., B.A.6
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Lashley, K.9
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Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree
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Charlesworth JC, Dyer TD, Stankovich JM, et al. Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended adult POAG pedigree. Invest Ophthalmol Vis Sci 2005;46:3723-3729. (Pubitemid 44264678)
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Charlesworth, J.C.1
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