메뉴 건너뛰기




Volumn 7, Issue 2, 2012, Pages

Copy number variation of Age-Related macular degeneration relevant genes in the Korean population

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARMS2 GENE; ARTICLE; CFH GENE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE PREDISPOSITION; ETHNIC GROUP; FEMALE; GENETIC ASSOCIATION; HTRA1 GENE; HUMAN; KOREAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; REAL TIME POLYMERASE CHAIN REACTION; RETINA MACULA AGE RELATED DEGENERATION; VEGFA GENE; VLDLR GENE; CASE CONTROL STUDY; COMPARATIVE STUDY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; PHENOTYPE; RETINA MACULA DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH KOREA;

EID: 84857098282     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0031243     Document Type: Article
Times cited : (12)

References (27)
  • 1
    • 1842530296 scopus 로고    scopus 로고
    • Causes and prevalence of visual impairment among adults in the United States
    • Congdon N, O'Colmain B, Klaver CC, Klein R, Munoz B, et al. (2004) Causes and prevalence of visual impairment among adults in the United States. Arch Ophthalmol 122: 477-485.
    • (2004) Arch Ophthalmol , vol.122 , pp. 477-485
    • Congdon, N.1    O'Colmain, B.2    Klaver, C.C.3    Klein, R.4    Munoz, B.5
  • 2
    • 1542297335 scopus 로고    scopus 로고
    • The epidemiology of age-related macular degeneration
    • Klein R, Peto T, Bird A, Vannewkirk MR, (2004) The epidemiology of age-related macular degeneration. Am J Ophthalmol 137: 486-495.
    • (2004) Am J Ophthalmol , vol.137 , pp. 486-495
    • Klein, R.1    Peto, T.2    Bird, A.3    Vannewkirk, M.R.4
  • 3
    • 0033652453 scopus 로고    scopus 로고
    • Risk factors associated with age-related macular degeneration. A case-control study in the age-related eye disease study: Age-Related Eye Disease Study Report Number 3
    • Age-Related Eye Disease Study Research Group
    • Age-Related Eye Disease Study Research Group (2000) Risk factors associated with age-related macular degeneration. A case-control study in the age-related eye disease study: Age-Related Eye Disease Study Report Number 3. Ophthalmology 107: 2224-2232.
    • (2000) Ophthalmology , vol.107 , pp. 2224-2232
  • 4
    • 0032468842 scopus 로고    scopus 로고
    • Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q
    • Klein ML, Schultz DW, Edwards A, Matise TC, Rust K, et al. (1998) Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 116: 1082-1088.
    • (1998) Arch Ophthalmol , vol.116 , pp. 1082-1088
    • Klein, M.L.1    Schultz, D.W.2    Edwards, A.3    Matise, T.C.4    Rust, K.5
  • 5
    • 0142059654 scopus 로고    scopus 로고
    • A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions
    • Seddon JM, Santangelo SL, Book K, Chong S, Cote J, (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet 73: 780-790.
    • (2003) Am J Hum Genet , vol.73 , pp. 780-790
    • Seddon, J.M.1    Santangelo, S.L.2    Book, K.3    Chong, S.4    Cote, J.5
  • 7
    • 0034533059 scopus 로고    scopus 로고
    • Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration
    • Kimura K, Isashiki Y, Sonoda S, Kakiuchi-Matsumoto T, Ohba N, (2000) Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration. Am J Ophthalmol 130: 769-773.
    • (2000) Am J Ophthalmol , vol.130 , pp. 769-773
    • Kimura, K.1    Isashiki, Y.2    Sonoda, S.3    Kakiuchi-Matsumoto, T.4    Ohba, N.5
  • 8
    • 0032014838 scopus 로고    scopus 로고
    • The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration
    • Souied EH, Benlian P, Amouyel P, Feingold J, Lagarde JP, et al. (1998) The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol 125: 353-359.
    • (1998) Am J Ophthalmol , vol.125 , pp. 353-359
    • Souied, E.H.1    Benlian, P.2    Amouyel, P.3    Feingold, J.4    Lagarde, J.P.5
  • 9
    • 77956340398 scopus 로고    scopus 로고
    • Association of age-related macular degeneration with polymorphisms in vascular endothelial growth factor and its receptor
    • Galan A, Ferlin A, Caretti L, Buson G, Sato G, et al. (2010) Association of age-related macular degeneration with polymorphisms in vascular endothelial growth factor and its receptor. Ophthalmology 117: 1769-1774.
    • (2010) Ophthalmology , vol.117 , pp. 1769-1774
    • Galan, A.1    Ferlin, A.2    Caretti, L.3    Buson, G.4    Sato, G.5
  • 10
    • 77951719393 scopus 로고    scopus 로고
    • Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
    • Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, et al. (2010) Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet 42: 400-405.
    • (2010) Nat Genet , vol.42 , pp. 400-405
    • Park, H.1    Kim, J.I.2    Ju, Y.S.3    Gokcumen, O.4    Mills, R.E.5
  • 11
    • 79960942836 scopus 로고    scopus 로고
    • Copy number variations in candidate genes in neovascular age-related macular degeneration
    • Liu MM, Agron E, Chew E, Meyerle C, Ferris FL 3rd, et al. (2011) Copy number variations in candidate genes in neovascular age-related macular degeneration. Invest Ophthalmol Vis Sci 52: 3129-3135.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 3129-3135
    • Liu, M.M.1    Agron, E.2    Chew, E.3    Meyerle, C.4    Ferris 3rd, F.L.5
  • 12
    • 73949086785 scopus 로고    scopus 로고
    • Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration
    • Schmid-Kubista KE, Tosakulwong N, Wu Y, Ryu E, Hecker LA, et al. (2009) Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration. Invest Ophthalmol Vis Sci 50: 5070-5079.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 5070-5079
    • Schmid-Kubista, K.E.1    Tosakulwong, N.2    Wu, Y.3    Ryu, E.4    Hecker, L.A.5
  • 13
    • 27744516278 scopus 로고    scopus 로고
    • A simplified severity scale for age-related macular degeneration: AREDS Report No. 18
    • Ferris FL, Davis MD, Clemons TE, Lee LY, Chew EY, et al. (2005) A simplified severity scale for age-related macular degeneration: AREDS Report No. 18. Arch Ophthalmol 123: 1570-1574.
    • (2005) Arch Ophthalmol , vol.123 , pp. 1570-1574
    • Ferris, F.L.1    Davis, M.D.2    Clemons, T.E.3    Lee, L.Y.4    Chew, E.Y.5
  • 15
    • 33846978695 scopus 로고    scopus 로고
    • Relative impact of nucleotide and copy number variation on gene expression phenotypes
    • Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, et al. (2007) Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315: 848-853.
    • (2007) Science , vol.315 , pp. 848-853
    • Stranger, B.E.1    Forrest, M.S.2    Dunning, M.3    Ingle, C.E.4    Beazley, C.5
  • 16
    • 70649094281 scopus 로고    scopus 로고
    • Neovascular age-related macular degeneration: intraocular cytokines and growth factors and the influence of therapy with ranibizumab
    • Funk M, Karl D, Georgopoulos M, Benesch T, Sacu S, et al. (2009) Neovascular age-related macular degeneration: intraocular cytokines and growth factors and the influence of therapy with ranibizumab. Ophthalmology 116: 2393-2399.
    • (2009) Ophthalmology , vol.116 , pp. 2393-2399
    • Funk, M.1    Karl, D.2    Georgopoulos, M.3    Benesch, T.4    Sacu, S.5
  • 17
    • 33644843900 scopus 로고    scopus 로고
    • Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6
    • Haines JL, Schnetz-Boutaud N, Schmidt S, Scott WK, Agarwal A, et al. (2006) Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci 47: 329-335.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 329-335
    • Haines, J.L.1    Schnetz-Boutaud, N.2    Schmidt, S.3    Scott, W.K.4    Agarwal, A.5
  • 18
    • 0036752926 scopus 로고    scopus 로고
    • The HtrA family of proteases: implications for protein composition and cell fate
    • Clausen T, Southan C, Ehrmann M, (2002) The HtrA family of proteases: implications for protein composition and cell fate. Mol Cell 10: 443-455.
    • (2002) Mol Cell , vol.10 , pp. 443-455
    • Clausen, T.1    Southan, C.2    Ehrmann, M.3
  • 19
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, et al. (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308: 421-424.
    • (2005) Science , vol.308 , pp. 421-424
    • Edwards, A.O.1    Ritter 3rd, R.2    Abel, K.J.3    Manning, A.4    Panhuysen, C.5
  • 20
    • 34748819371 scopus 로고    scopus 로고
    • Variation in complement factor 3 is associated with risk of age-related macular degeneration
    • Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, et al. (2007) Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet 39: 1200-1201.
    • (2007) Nat Genet , vol.39 , pp. 1200-1201
    • Maller, J.B.1    Fagerness, J.A.2    Reynolds, R.C.3    Neale, B.M.4    Daly, M.J.5
  • 21
    • 34548406001 scopus 로고    scopus 로고
    • Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration
    • Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, et al. (2007) Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet 16: 1986-1992.
    • (2007) Hum Mol Genet , vol.16 , pp. 1986-1992
    • Spencer, K.L.1    Hauser, M.A.2    Olson, L.M.3    Schmidt, S.4    Scott, W.K.5
  • 22
    • 59449085429 scopus 로고    scopus 로고
    • Loss of VLDL receptor activates retinal vascular endothelial cells and promotes angiogenesis
    • Jiang A, Hu W, Meng H, Gao H, Qiao X, (2009) Loss of VLDL receptor activates retinal vascular endothelial cells and promotes angiogenesis. Invest Ophthalmol Vis Sci 50: 844-850.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 844-850
    • Jiang, A.1    Hu, W.2    Meng, H.3    Gao, H.4    Qiao, X.5
  • 23
  • 24
    • 36348999343 scopus 로고    scopus 로고
    • Very low density lipoprotein receptor, a negative regulator of the wnt signaling pathway and choroidal neovascularization
    • Chen Y, Hu Y, Lu K, Flannery JG, Ma JX, (2007) Very low density lipoprotein receptor, a negative regulator of the wnt signaling pathway and choroidal neovascularization. J Biol Chem 282: 34420-34428.
    • (2007) J Biol Chem , vol.282 , pp. 34420-34428
    • Chen, Y.1    Hu, Y.2    Lu, K.3    Flannery, J.G.4    Ma, J.X.5
  • 25
    • 39549116363 scopus 로고    scopus 로고
    • Expression of VLDLR in the retina and evolution of subretinal neovascularization in the knockout mouse model's retinal angiomatous proliferation
    • Hu W, Jiang A, Liang J, Meng H, Chang B, et al. (2008) Expression of VLDLR in the retina and evolution of subretinal neovascularization in the knockout mouse model's retinal angiomatous proliferation. Invest Ophthalmol Vis Sci 49: 407-415.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 407-415
    • Hu, W.1    Jiang, A.2    Liang, J.3    Meng, H.4    Chang, B.5
  • 27
    • 57149102071 scopus 로고    scopus 로고
    • Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
    • Ionita-Laza I, Rogers AJ, Lange C, Raby BA, Lee C, (2009) Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics 93: 22-26.
    • (2009) Genomics , vol.93 , pp. 22-26
    • Ionita-Laza, I.1    Rogers, A.J.2    Lange, C.3    Raby, B.A.4    Lee, C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.