메뉴 건너뛰기




Volumn 53, Issue 2, 2012, Pages 794-798

Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C2; DNA;

EID: 84858995107     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-8468     Document Type: Article
Times cited : (36)

References (41)
  • 1
    • 33749440219 scopus 로고    scopus 로고
    • Age-related macular degeneration
    • de Jong PT. Age-related macular degeneration. N Engl J Med. 2006;355:1474-1485.
    • (2006) N Engl J Med , vol.355 , pp. 1474-1485
    • de Jong, P.T.1
  • 2
    • 23944465880 scopus 로고    scopus 로고
    • Susceptibility genes for age-related maculopathy on chromosome 10q26
    • Jakobsdottir J, Conley YP, Weeks DE, et al. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005;77:389-407.
    • (2005) Am J Hum Genet , vol.77 , pp. 389-407
    • Jakobsdottir, J.1    Conley, Y.P.2    Weeks, D.E.3
  • 3
    • 27744462212 scopus 로고    scopus 로고
    • Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk
    • Rivera A, Fisher SA, Fritsche LG, et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005;14:3227-3236.
    • (2005) Hum Mol Genet , vol.14 , pp. 3227-3236
    • Rivera, A.1    Fisher, S.A.2    Fritsche, L.G.3
  • 4
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • Edwards AO, Ritter R 3rd, Abel KJ, et al. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421-424.
    • (2005) Science , vol.308 , pp. 421-424
    • Edwards, A.O.1    Ritter III, R.2    Abel, K.J.3
  • 5
    • 21044453724 scopus 로고    scopus 로고
    • A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
    • Hageman GS, Anderson DH, Johnson LV, et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A. 2005;102:7227-7232.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 7227-7232
    • Hageman, G.S.1    Anderson, D.H.2    Johnson, L.V.3
  • 6
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of age-related macular degeneration
    • Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421.
    • (2005) Science , vol.308 , pp. 419-421
    • Haines, J.L.1    Hauser, M.A.2    Schmidt, S.3
  • 7
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308: 385-389.
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1    Zeiss, C.2    Chew, E.Y.3
  • 8
    • 33645419787 scopus 로고    scopus 로고
    • Variation in factor B (BF) and complement component 2 (C2) genes is associated with agerelated macular degeneration
    • Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with agerelated macular degeneration. Nat Genet. 2006;38:458-462.
    • (2006) Nat Genet , vol.38 , pp. 458-462
    • Gold, B.1    Merriam, J.E.2    Zernant, J.3
  • 9
    • 42449092918 scopus 로고    scopus 로고
    • Gene-environment interaction in progression of AMD: The CFH gene, smoking and exposure to chronic infection
    • Baird PN, Robman LD, Richardson AJ, et al. Gene-environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection. Hum Mol Genet. 2008;17:1299-1305.
    • (2008) Hum Mol Genet , vol.17 , pp. 1299-1305
    • Baird, P.N.1    Robman, L.D.2    Richardson, A.J.3
  • 10
    • 57349128451 scopus 로고    scopus 로고
    • Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration
    • Seitsonen SP, Onkamo P, Peng G, et al. Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration. PLoS One. 2008;3:e3833.
    • (2008) PLoS One , vol.3
    • Seitsonen, S.P.1    Onkamo, P.2    Peng, G.3
  • 11
    • 0036741098 scopus 로고    scopus 로고
    • A role for local inflammation in the formation of drusen in the aging eye
    • Anderson DH, Mullins RF, Hageman GS, Johnson LV. A role for local inflammation in the formation of drusen in the aging eye. Am J Ophthalmol. 2002;134:411-431.
    • (2002) Am J Ophthalmol , vol.134 , pp. 411-431
    • Anderson, D.H.1    Mullins, R.F.2    Hageman, G.S.3    Johnson, L.V.4
  • 12
    • 18844453162 scopus 로고    scopus 로고
    • Evidence for an inflammatory process in age-related macular degeneration gains new support
    • Bok D. Evidence for an inflammatory process in age-related macular degeneration gains new support. Proc Natl Acad Sci U S A. 2005;102:7053-7054.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 7053-7054
    • Bok, D.1
  • 13
    • 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, et al. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet. 2007;16: 1986-1992.
    • (2007) Hum Mol Genet , vol.16 , pp. 1986-1992
    • Spencer, K.L.1    Hauser, M.A.2    Olson, L.M.3
  • 14
    • 59449109680 scopus 로고    scopus 로고
    • Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration(AMD)
    • Richardson AJ, Islam FM, Guymer RH, Baird PN. Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration(AMD). Invest Ophthalmol Vis Sci. 2009;50:540-543.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 540-543
    • Richardson, A.J.1    Islam, F.M.2    Guymer, R.H.3    Baird, P.N.4
  • 15
    • 77952147434 scopus 로고    scopus 로고
    • Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
    • Chen W, Stambolian D, Edwards AO, et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A. 2010;107:7401-7406.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 7401-7406
    • Chen, W.1    Stambolian, D.2    Edwards, A.O.3
  • 16
    • 77957577770 scopus 로고    scopus 로고
    • Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population
    • Liu X, Zhao P, Tang S, et al. Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. Retina. 2010;30:1177-1184.
    • (2010) Retina , vol.30 , pp. 1177-1184
    • Liu, X.1    Zhao, P.2    Tang, S.3
  • 17
    • 60649100054 scopus 로고    scopus 로고
    • Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population
    • Chu J, Zhou CC, Lu N, Zhang X, Dong FT. Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population. Chin Med J (Engl). 2008;121:2525-2533.
    • (2008) Chin Med J (Engl) , vol.121 , pp. 2525-2533
    • Chu, J.1    Zhou, C.C.2    Lu, N.3    Zhang, X.4    Dong, F.T.5
  • 18
    • 0028897863 scopus 로고
    • Indocyanine green videoangiography of idiopathic polypoidal choroidal vasculopathy
    • Spaide RF, Yannuzzi LA, Slakter JS, Sorenson J, Orlach DA. Indocyanine green videoangiography of idiopathic polypoidal choroidal vasculopathy. Retina. 1995;15:100-110.
    • (1995) Retina , vol.15 , pp. 100-110
    • Spaide, R.F.1    Yannuzzi, L.A.2    Slakter, J.S.3    Sorenson, J.4    Orlach, D.A.5
  • 19
    • 34250780749 scopus 로고    scopus 로고
    • Clinical characteristics of exudative age-related macular degeneration in Japanese patients
    • Maruko I, Iida T, Saito M, Nagayama D, Saito K. Clinical characteristics of exudative age-related macular degeneration in Japanese patients. Am J Ophthalmol. 2007;144:15-22.
    • (2007) Am J Ophthalmol , vol.144 , pp. 15-22
    • Maruko, I.1    Iida, T.2    Saito, M.3    Nagayama, D.4    Saito, K.5
  • 21
    • 34548745157 scopus 로고    scopus 로고
    • Subtype lesions of neovascular age-related macular degeneration in Chinese patients
    • Liu Y, Wen F, Huang S, et al. Subtype lesions of neovascular age-related macular degeneration in Chinese patients. Graefes Arch Clin Exp Ophthalmol. 2007;245:1441-1445.
    • (2007) Graefes Arch Clin Exp Ophthalmol , vol.245 , pp. 1441-1445
    • Liu, Y.1    Wen, F.2    Huang, S.3
  • 22
    • 67349272722 scopus 로고    scopus 로고
    • ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy
    • Gotoh N, Nakanishi H, Hayashi H, et al. ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy. Am J Ophthalmol 2009;147:1037-1041, 1041 e1031-e1032.
    • (2009) Am J Ophthalmol , vol.147
    • Gotoh, N.1    Nakanishi, H.2    Hayashi, H.3
  • 23
    • 58849122853 scopus 로고    scopus 로고
    • Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy
    • Kondo N, Honda S, Kuno S, Negi A. Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy. Ophthalmology 2009;116:304-310.
    • (2009) Ophthalmology , vol.116 , pp. 304-310
    • Kondo, N.1    Honda, S.2    Kuno, S.3    Negi, A.4
  • 24
    • 79551695935 scopus 로고    scopus 로고
    • CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation
    • Hayashi H, Yamashiro K, Gotoh N, et al. CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. Invest Ophthalmol Vis Sci. 2010;51:5914-5919.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 5914-5919
    • Hayashi, H.1    Yamashiro, K.2    Gotoh, N.3
  • 25
    • 0036194226 scopus 로고    scopus 로고
    • Polypoidal choroidal vasculopathy treated with macular translocation: Clinical pathological correlation
    • Terasaki H, Miyake Y, Suzuki T, Nakamura M, Nagasaka T. Polypoidal choroidal vasculopathy treated with macular translocation: clinical pathological correlation. Br J Ophthalmol. 2002;86:321-327.
    • (2002) Br J Ophthalmol , vol.86 , pp. 321-327
    • Terasaki, H.1    Miyake, Y.2    Suzuki, T.3    Nakamura, M.4    Nagasaka, T.5
  • 26
    • 47249097446 scopus 로고    scopus 로고
    • Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy
    • Lee KY, Vithana EN, Mathur R, et al. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2008;49:2613-2619.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 2613-2619
    • Lee, K.Y.1    Vithana, E.N.2    Mathur, R.3
  • 27
    • 67949094303 scopus 로고    scopus 로고
    • Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology
    • Kondo N, Honda S, Kuno S, Negi A. Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology. Ophthalmology. 2009;116:1502-1509.
    • (2009) Ophthalmology , vol.116 , pp. 1502-1509
    • Kondo, N.1    Honda, S.2    Kuno, S.3    Negi, A.4
  • 28
    • 77955467892 scopus 로고    scopus 로고
    • Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy
    • Lima LH, Schubert C, Ferrara DC, et al. Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy. Ophthalmology. 2010;117:1567-1570.
    • (2010) Ophthalmology , vol.117 , pp. 1567-1570
    • Lima, L.H.1    Schubert, C.2    Ferrara, D.C.3
  • 29
    • 0028934221 scopus 로고
    • An international classification and grading system for age-related maculopathy and agerelated macular degeneration. The International ARM Epidemiological Study Group
    • Bird AC, Bressler NM, Bressler SB, et al. An international classification and grading system for age-related maculopathy and agerelated macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol. 1995;39:367-374.
    • (1995) Surv Ophthalmol , vol.39 , pp. 367-374
    • Bird, A.C.1    Bressler, N.M.2    Bressler, S.B.3
  • 30
    • 23944457674 scopus 로고    scopus 로고
    • Criteria for diagnosis of polypoidal choroidal vasculopathy
    • Japanese Study Group of Polypoidal Choroidal Vasculopathy
    • Japanese Study Group of Polypoidal Choroidal Vasculopathy. Criteria for diagnosis of polypoidal choroidal vasculopathy. Nippon Ganka Gakkai Zasshi 2005;109:417-427.
    • (2005) Nippon Ganka Gakkai Zasshi , vol.109 , pp. 417-427
  • 31
    • 79955945240 scopus 로고    scopus 로고
    • Joint effect of cigarette smoking and CFH and LOC387715/HTRA1 polymorphisms on polypoidal choroidal vasculopathy
    • Nakanishi H, Yamashiro K, Yamada R, et al. Joint effect of cigarette smoking and CFH and LOC387715/HTRA1 polymorphisms on polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2010; 51:6183-6187.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 6183-6187
    • Nakanishi, H.1    Yamashiro, K.2    Yamada, R.3
  • 32
    • 75749107535 scopus 로고    scopus 로고
    • The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration
    • Kaur I, Katta S, Reddy RK, et al. The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2010;51:59-63.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 59-63
    • Kaur, I.1    Katta, S.2    Reddy, R.K.3
  • 33
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 34
    • 34249997024 scopus 로고    scopus 로고
    • Replicating genotypephenotype associations
    • Chanock SJ, Manolio T, Boehnke M, et al. Replicating genotypephenotype associations. Nature. 2007;447:655-660.
    • (2007) Nature , vol.447 , pp. 655-660
    • Chanock, S.J.1    Manolio, T.2    Boehnke, M.3
  • 35
    • 77951622411 scopus 로고    scopus 로고
    • The prevalence of age-related macular degeneration in Asians: A systematic review and metaanalysis
    • Kawasaki R, Yasuda M, Song SJ, et al. The prevalence of age-related macular degeneration in Asians: a systematic review and metaanalysis. Ophthalmology. 2010;117:921-927.
    • (2010) Ophthalmology , vol.117 , pp. 921-927
    • Kawasaki, R.1    Yasuda, M.2    Song, S.J.3
  • 36
    • 79957998094 scopus 로고    scopus 로고
    • Associations of cigarette smoking but not serum fatty acids with age-related macular degeneration in a Japanese population
    • Kabasawa S, Mori K, Horie-Inoue K, et al. Associations of cigarette smoking but not serum fatty acids with age-related macular degeneration in a Japanese population. Ophthalmology. 2011;118:1082-1088.
    • (2011) Ophthalmology , vol.118 , pp. 1082-1088
    • Kabasawa, S.1    Mori, K.2    Horie-Inoue, K.3
  • 37
    • 48149112109 scopus 로고    scopus 로고
    • Prevalence and risk factors for age-related macular degeneration in an adult Japanese population: The Funagata study
    • Kawasaki R, Wang JJ, Ji GJ, et al. Prevalence and risk factors for age-related macular degeneration in an adult Japanese population: the Funagata study. Ophthalmology. 2008;115:1376-1381, 1381 e1371-e1372.
    • (2008) Ophthalmology , vol.115
    • Kawasaki, R.1    Wang, J.J.2    Ji, G.J.3
  • 39
    • 77956343419 scopus 로고    scopus 로고
    • Prevalence and significance of subretinal drusenoid deposits (reticular pseudodrusen) in age-related macular degeneration
    • Zweifel SA, Imamura Y, Spaide TC, Fujiwara T, Spaide RF. Prevalence and significance of subretinal drusenoid deposits (reticular pseudodrusen) in age-related macular degeneration. Ophthalmology. 2010;117:1775-1781.
    • (2010) Ophthalmology , vol.117 , pp. 1775-1781
    • Zweifel, S.A.1    Imamura, Y.2    Spaide, T.C.3    Fujiwara, T.4    Spaide, R.F.5
  • 41
    • 77958524704 scopus 로고    scopus 로고
    • Pathway-based therapies for age-related macular degeneration: An integrated survey of emerging treatment alternatives
    • Zarbin MA, Rosenfeld PJ. Pathway-based therapies for age-related macular degeneration: an integrated survey of emerging treatment alternatives. Retina. 2010;30:1350-1367.
    • (2010) Retina , vol.30 , pp. 1350-1367
    • Zarbin, M.A.1    Rosenfeld, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.