메뉴 건너뛰기




Volumn 40, Issue 4, 2012, Pages 358-363

Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: A review

Author keywords

Endophenotype; Genetics; Primary open angle glaucoma; Quantitative trait loci

Indexed keywords

CAVEOLIN;

EID: 84862524591     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/j.1442-9071.2011.02744.x     Document Type: Review
Times cited : (19)

References (32)
  • 1
    • 37549059918 scopus 로고    scopus 로고
    • How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania
    • Green CM, Kearns LS, Wu J etal. How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania. Clin Experiment Ophthalmol 2007; 35: 793-9.
    • (2007) Clin Experiment Ophthalmol , vol.35 , pp. 793-799
    • Green, C.M.1    Kearns, L.S.2    Wu, J.3
  • 2
    • 0032407480 scopus 로고    scopus 로고
    • Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study
    • Wolfs RC, Klaver CC, Ramrattan RS etal. Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. Arch Ophthalmol 1998; 116: 1640-5.
    • (1998) Arch Ophthalmol , vol.116 , pp. 1640-1645
    • Wolfs, R.C.1    Klaver, C.C.2    Ramrattan, R.S.3
  • 3
    • 77955862819 scopus 로고    scopus 로고
    • The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness
    • Charlesworth J, Kramer PL, Dyer T etal. 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: 3509-14.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 3509-3514
    • Charlesworth, J.1    Kramer, P.L.2    Dyer, T.3
  • 4
    • 14444283397 scopus 로고    scopus 로고
    • Identification of a gene causing primary open angle glaucoma
    • Stone EM, Fingert JH, Alward WL etal. Identification of a gene causing primary open angle glaucoma. Science 1997; 275: 668-70.
    • (1997) Science , vol.275 , pp. 668-670
    • Stone, E.M.1    Fingert, J.H.2    Alward, W.L.3
  • 5
    • 79955983465 scopus 로고    scopus 로고
    • Primary open-angle glaucoma genes
    • Fingert JH. Primary open-angle glaucoma genes. Eye 2011; 25: 587-95.
    • (2011) Eye , vol.25 , pp. 587-595
    • Fingert, J.H.1
  • 6
    • 42249087793 scopus 로고    scopus 로고
    • Estimation of significance thresholds for genomewide association scans
    • Dudbridge F, Gusnanto A. Estimation of significance thresholds for genomewide association scans. Genet Epidemiol 2008; 32: 227-34.
    • (2008) Genet Epidemiol , vol.32 , pp. 227-234
    • Dudbridge, F.1    Gusnanto, A.2
  • 7
    • 34548694283 scopus 로고    scopus 로고
    • Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
    • Thorleifsson G, Magnusson KP, Sulem P etal. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317: 1397-400.
    • (2007) Science , vol.317 , pp. 1397-1400
    • Thorleifsson, G.1    Magnusson, K.P.2    Sulem, P.3
  • 8
    • 79953048686 scopus 로고    scopus 로고
    • Genetics and genomics of pseudoexfoliation syndrome/glaucoma
    • Schlotzer-Schrehardt U. Genetics and genomics of pseudoexfoliation syndrome/glaucoma. Middle East Afr J Ophthalmol 2011; 18: 30-6.
    • (2011) Middle East Afr J Ophthalmol , vol.18 , pp. 30-36
    • Schlotzer-Schrehardt, U.1
  • 9
    • 84862531965 scopus 로고    scopus 로고
    • Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population
    • doi: 10.3109/13816810.2011.575430 [Epub ahead of print].
    • Abu-Amero KK, Osman EA, Azad MT etal. Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population. Ophthalmic Genet 2011; doi: 10.3109/13816810.2011.575430 [Epub ahead of print].
    • (2011) Ophthalmic Genet
    • Abu-Amero, K.K.1    Osman, E.A.2    Azad, M.T.3
  • 10
    • 77949333338 scopus 로고    scopus 로고
    • Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma
    • Chen H, Chen LJ, Zhang M etal. Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. Mol Vis 2010; 16: 167-77.
    • (2010) Mol Vis , vol.16 , pp. 167-177
    • Chen, H.1    Chen, L.J.2    Zhang, M.3
  • 11
    • 69149095205 scopus 로고    scopus 로고
    • Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population
    • Nakano M, Ikeda Y, Taniguchi T etal. Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. Proc Natl Acad Sci U S A 2009; 106: 12838-42.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 12838-12842
    • Nakano, M.1    Ikeda, Y.2    Taniguchi, T.3
  • 12
    • 4444317393 scopus 로고    scopus 로고
    • Two-stage designs for gene-disease association studies with sample size constraints
    • Satagopan JM, Venkatraman ES, Begg CB. Two-stage designs for gene-disease association studies with sample size constraints. Biometrics 2004; 60: 589-97.
    • (2004) Biometrics , vol.60 , pp. 589-597
    • Satagopan, J.M.1    Venkatraman, E.S.2    Begg, C.B.3
  • 13
    • 4444279753 scopus 로고    scopus 로고
    • The prevalence of primary open-angle glaucoma in Japanese: the Tajimi Study
    • Iwase A, Suzuki Y, Araie M etal. The prevalence of primary open-angle glaucoma in Japanese: the Tajimi Study. Ophthalmology 2004; 111: 1641-8.
    • (2004) Ophthalmology , vol.111 , pp. 1641-1648
    • Iwase, A.1    Suzuki, Y.2    Araie, M.3
  • 14
    • 77954349639 scopus 로고    scopus 로고
    • Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility
    • Meguro A, Inoko H, Ota M, Mizuki N, Bahram S. Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. Ophthalmology 2010; 117: 1331-8 e5.
    • (2010) Ophthalmology , vol.117
    • Meguro, A.1    Inoko, H.2    Ota, M.3    Mizuki, N.4    Bahram, S.5
  • 15
    • 39749149076 scopus 로고    scopus 로고
    • Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people
    • Hewitt AW, Sharma S, Burdon KP etal. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet 2008; 17: 710-16.
    • (2008) Hum Mol Genet , vol.17 , pp. 710-716
    • Hewitt, A.W.1    Sharma, S.2    Burdon, K.P.3
  • 16
    • 77957603164 scopus 로고    scopus 로고
    • Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
    • Thorleifsson G, Walters GB, Hewitt AW etal. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet 2010; 42: 906-9.
    • (2010) Nat Genet , vol.42 , pp. 906-909
    • Thorleifsson, G.1    Walters, G.B.2    Hewitt, A.W.3
  • 17
    • 79952141730 scopus 로고    scopus 로고
    • Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort
    • Kuehn MH, Wang K, Roos B etal. Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Mol Vis 2011; 17: 430-5.
    • (2011) Mol Vis , vol.17 , pp. 430-435
    • Kuehn, M.H.1    Wang, K.2    Roos, B.3
  • 18
    • 0002348364 scopus 로고
    • The power and deceit of {QTL} experiments: lessons from comparative {QTL} studies
    • In: Wilkinson DB, ed. Washington D.C.: American Seed Trade Association
    • Beavis W. The power and deceit of {QTL} experiments: lessons from comparative {QTL} studies. In: Wilkinson DB, ed. Proceedings of the Corn and Sorghum Industry Research Conference1994. Washington D.C.: American Seed Trade Association, 1994; 250-66.
    • (1994) Proceedings of the Corn and Sorghum Industry Research Conference1994 , pp. 250-266
    • Beavis, W.1
  • 19
    • 81255169298 scopus 로고    scopus 로고
    • Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA
    • Wiggs JL, Hee Kang J, Yaspan BL etal. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet 2011; 20: 4707-13.
    • (2011) Hum Mol Genet , vol.20 , pp. 4707-4713
    • Wiggs, J.L.1    Hee Kang, J.2    Yaspan, B.L.3
  • 20
    • 79957611419 scopus 로고    scopus 로고
    • Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
    • Burdon KP, Macgregor S, Hewitt AW etal. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet 2011; 43: 574-8.
    • (2011) Nat Genet , vol.43 , pp. 574-578
    • Burdon, K.P.1    Macgregor, S.2    Hewitt, A.W.3
  • 21
    • 76249110211 scopus 로고    scopus 로고
    • Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
    • Xin B, Puffenberger EG, Turben S etal. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci U S A 2010; 107: 258-63.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 258-263
    • Xin, B.1    Puffenberger, E.G.2    Turben, S.3
  • 22
    • 80051679799 scopus 로고    scopus 로고
    • Long noncoding RNA, polycomb, and the ghosts haunting INK4b-ARF-INK4a expression
    • Aguilo F, Zhou MM, Walsh MJ. Long noncoding RNA, polycomb, and the ghosts haunting INK4b-ARF-INK4a expression. Cancer Res 2011; 71: 5365-9.
    • (2011) Cancer Res , vol.71 , pp. 5365-5369
    • Aguilo, F.1    Zhou, M.M.2    Walsh, M.J.3
  • 23
    • 77954168341 scopus 로고    scopus 로고
    • Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
    • Macgregor S, Hewitt AW, Hysi PG etal. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet 2010; 19: 2716-24.
    • (2010) Hum Mol Genet , vol.19 , pp. 2716-2724
    • Macgregor, S.1    Hewitt, A.W.2    Hysi, P.G.3
  • 24
    • 77954164213 scopus 로고    scopus 로고
    • A genome-wide association study of optic disc parameters
    • Ramdas WD, van Koolwijk LM, Ikram MK etal. A genome-wide association study of optic disc parameters. PLoS Genet 2010; 6: e1000978.
    • (2010) PLoS Genet , vol.6
    • Ramdas, W.D.1    van Koolwijk, L.M.2    Ikram, M.K.3
  • 25
    • 77953226403 scopus 로고    scopus 로고
    • Common genetic variants near the Brittle Cornea Syndrome Locus ZNF469 influence the blinding disease risk factor central corneal thickness
    • e1000947.
    • Lu Y, Dimasi D, Hysi P etal. Common genetic variants near the Brittle Cornea Syndrome Locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet 2010; 13: e1000947.
    • (2010) PLoS Genet , vol.13
    • Lu, Y.1    Dimasi, D.2    Hysi, P.3
  • 26
    • 77957884591 scopus 로고    scopus 로고
    • New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8
    • Vitart V, Bencic G, Hayward C etal. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet 2010; 19: 4304-11.
    • (2010) Hum Mol Genet , vol.19 , pp. 4304-4311
    • Vitart, V.1    Bencic, G.2    Hayward, C.3
  • 27
    • 78751693747 scopus 로고    scopus 로고
    • Collagen-related genes influence the glaucoma risk factor, central corneal thickness
    • Vithana EN, Aung T, Khor CC etal. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet 2011; 20: 649-58.
    • (2011) Hum Mol Genet , vol.20 , pp. 649-658
    • Vithana, E.N.1    Aung, T.2    Khor, C.C.3
  • 28
    • 84855389923 scopus 로고    scopus 로고
    • Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations
    • Cornes BK, Khor CC, Nongpiur ME etal. Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations. Hum Mol Genet 2011; 21: 437-45.
    • (2011) Hum Mol Genet , vol.21 , pp. 437-445
    • Cornes, B.K.1    Khor, C.C.2    Nongpiur, M.E.3
  • 29
    • 79954561198 scopus 로고    scopus 로고
    • Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area
    • Khor CC, Ramdas WD, Vithana EN etal. Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. Hum Mol Genet 2011; 20: 1864-72.
    • (2011) Hum Mol Genet , vol.20 , pp. 1864-1872
    • Khor, C.C.1    Ramdas, W.D.2    Vithana, E.N.3
  • 30
    • 75749119007 scopus 로고    scopus 로고
    • Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene
    • Christensen AE, Knappskog PM, Midtbo M etal. Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. Invest Ophthalmol Vis Sci 2010; 51: 47-52.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 47-52
    • Christensen, A.E.1    Knappskog, P.M.2    Midtbo, M.3
  • 31
    • 79957455456 scopus 로고    scopus 로고
    • Common genetic variants associated with open-angle glaucoma
    • Ramdas WD, van Koolwijk LM, Lemij HG etal. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet 2011; 20: 2464-71.
    • (2011) Hum Mol Genet , vol.20 , pp. 2464-2471
    • Ramdas, W.D.1    van Koolwijk, L.M.2    Lemij, H.G.3
  • 32
    • 79955930667 scopus 로고    scopus 로고
    • Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population
    • Fan BJ, Wang DY, Pasquale LR, Haines JL, Wiggs JL. Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population. Invest Ophthalmol Vis Sci 2011; 52: 1788-92.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 1788-1792
    • Fan, B.J.1    Wang, D.Y.2    Pasquale, L.R.3    Haines, J.L.4    Wiggs, J.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.