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Volumn 89, Issue 1, 2011, Pages

Genetic association study of age-related macular degeneration in the Spanish population

Author keywords

ABCA4; age related macular degeneration; ARMS2; case control study; CFH; FGF2; genetic association

Indexed keywords

3' UNTRANSLATED REGION; AGED; ARTICLE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79551560263     PISSN: 1755375X     EISSN: 17553768     Source Type: Journal    
DOI: 10.1111/j.1755-3768.2010.02040.x     Document Type: Article
Times cited : (40)

References (73)
  • 1
    • 12144288320 scopus 로고    scopus 로고
    • Age-related macular degeneration: A high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease
    • Abecasis GR, Yashar BM, Zhao Y, et al. (2004): Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet 74: 482-494.
    • (2004) Am J Hum Genet , vol.74 , pp. 482-494
    • Abecasis, G.R.1    Yashar, B.M.2    Zhao, Y.3
  • 2
    • 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
  • 3
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • Allikmets R, Shroyer NF, Singh N, et al. (1997): Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277: 1805-1807.
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3
  • 4
    • 33847308735 scopus 로고    scopus 로고
    • The fibroblast growth factor-2 antisense gene inhibits nuclear accumulation of FGF-2 and delays cell cycle progression in C6 glioma cells
    • Baguma-Nibasheka M, Li AW, &, Murphy PR, (2007): The fibroblast growth factor-2 antisense gene inhibits nuclear accumulation of FGF-2 and delays cell cycle progression in C6 glioma cells. Mol Cell Endocrinol 267: 127-136.
    • (2007) Mol Cell Endocrinol , vol.267 , pp. 127-136
    • Baguma-Nibasheka, M.1    Li, A.W.2    Murphy, P.R.3
  • 5
    • 7044286089 scopus 로고    scopus 로고
    • Association of the M55L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration
    • Baird PN, Chu D, Guida E, Vu HT, &, Guymer R, (2004): Association of the M55L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration. Am J Ophthalmol 138: 665-666.
    • (2004) Am J Ophthalmol , vol.138 , pp. 665-666
    • Baird, P.N.1    Chu, D.2    Guida, E.3    Vu, H.T.4    Guymer, R.5
  • 6
    • 33947615435 scopus 로고    scopus 로고
    • Expanded genome scan in extended families with age-related macular degeneration
    • Barral S, Francis PJ, Schultz DW, et al. (2006): Expanded genome scan in extended families with age-related macular degeneration. Invest Ophthalmol Vis Sci 47: 5453-9.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 5453-5459
    • Barral, S.1    Francis, P.J.2    Schultz, D.W.3
  • 7
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, &, Daly MJ, (2005): Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 8
    • 29944436547 scopus 로고    scopus 로고
    • Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration
    • discussion 44-45.
    • Bojanowski CM, Tuo J, Chew EY, Csaky KG, &, Chan CC, (2005): Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration. Trans Am Ophthalmol Soc 103: 37-44. discussion 44-45.
    • (2005) Trans Am Ophthalmol Soc , vol.103 , pp. 37-44
    • Bojanowski, C.M.1    Tuo, J.2    Chew, E.Y.3    Csaky, K.G.4    Chan, C.C.5
  • 9
    • 47049118909 scopus 로고    scopus 로고
    • The effects of growth factors on the proliferation and in vitro angiogenesis of human macular inner choroidal endothelial cells
    • Browning AC, Dua HS, &, Amoaku WM, (2008): The effects of growth factors on the proliferation and in vitro angiogenesis of human macular inner choroidal endothelial cells. Br J Ophthalmol 92: 1003-1008.
    • (2008) Br J Ophthalmol , vol.92 , pp. 1003-1008
    • Browning, A.C.1    Dua, H.S.2    Amoaku, W.M.3
  • 11
    • 45949111258 scopus 로고    scopus 로고
    • Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration
    • Deangelis MM, Ji F, Adams S, et al. (2008): Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology 115: 1209-1215.
    • (2008) Ophthalmology , vol.115 , pp. 1209-1215
    • Deangelis, M.M.1    Ji, F.2    Adams, S.3
  • 12
    • 39549111290 scopus 로고    scopus 로고
    • Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration
    • Despriet DD, Bergen AA, Merriam JE, et al. (2008): Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration. Invest Ophthalmol Vis Sci 49: 364-371.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 364-371
    • Despriet, D.D.1    Bergen, A.A.2    Merriam, J.E.3
  • 13
    • 33751011889 scopus 로고    scopus 로고
    • HTRA1 promoter polymorphism in wet age-related macular degeneration
    • Dewan A, Liu M, Hartman S, et al. (2006): HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314: 989-992.
    • (2006) Science , vol.314 , pp. 989-992
    • Dewan, A.1    Liu, M.2    Hartman, S.3
  • 15
    • 45549091151 scopus 로고    scopus 로고
    • Toll-like receptor polymorphisms and age-related macular degeneration
    • Edwards AO, Chen D, Fridley BL, et al. (2008): Toll-like receptor polymorphisms and age-related macular degeneration. Invest Ophthalmol Vis Sci 49: 1652-1659.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 1652-1659
    • Edwards, A.O.1    Chen, D.2    Fridley, B.L.3
  • 17
    • 23944478239 scopus 로고    scopus 로고
    • Meta-analysis of genome scans of age-related macular degeneration
    • Fisher SA, Abecasis GR, Yashar BM, et al. (2005): Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet 14: 2257-2264.
    • (2005) Hum Mol Genet , vol.14 , pp. 2257-2264
    • Fisher, S.A.1    Abecasis, G.R.2    Yashar, B.M.3
  • 19
    • 43549091327 scopus 로고    scopus 로고
    • Haplotypes in the complement factor H (CFH) gene: Associations with drusen and advanced age-related macular degeneration
    • Francis PJ, Schultz DW, Hamon S, Ott J, Weleber RG, &, Klein ML, (2007): Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration. PLoS ONE 2: e1197.
    • (2007) PLoS ONE , vol.2
    • Francis, P.J.1    Schultz, D.W.2    Hamon, S.3    Ott, J.4    Weleber, R.G.5    Klein, M.L.6
  • 20
    • 0030832082 scopus 로고    scopus 로고
    • Growth factors in age-related macular degeneration: Pathogenic and therapeutic implications
    • Frank RN, (1997): Growth factors in age-related macular degeneration: pathogenic and therapeutic implications. Ophthalmic Res 29: 341-353.
    • (1997) Ophthalmic Res , vol.29 , pp. 341-353
    • Frank, R.N.1
  • 21
    • 11144354339 scopus 로고    scopus 로고
    • Prevalence of age-related macular degeneration in the United States
    • Friedman DS, O'Colmain BJ, Munoz B, et al. (2004): Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol 122: 564-572.
    • (2004) Arch Ophthalmol , vol.122 , pp. 564-572
    • Friedman, D.S.1    O'Colmain, B.J.2    Munoz, B.3
  • 24
    • 33845201438 scopus 로고    scopus 로고
    • Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration
    • Fuse N, Miyazawa A, Mengkegale M, Yoshida M, Wakusawa R, Abe T, &, Tamai M, (2006): Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration. Am J Ophthalmol 142: 1074-1076.
    • (2006) Am J Ophthalmol , vol.142 , pp. 1074-1076
    • Fuse, N.1    Miyazawa, A.2    Mengkegale, M.3    Yoshida, M.4    Wakusawa, R.5    Abe, T.6    Tamai, M.7
  • 25
    • 18444369013 scopus 로고    scopus 로고
    • The structure of haplotype blocks in the human genome
    • Gabriel SB, Schaffner SF, Nguyen H, et al. (2002): The structure of haplotype blocks in the human genome. Science 296: 2225-2229.
    • (2002) Science , vol.296 , pp. 2225-2229
    • Gabriel, S.B.1    Schaffner, S.F.2    Nguyen, H.3
  • 26
    • 33645419787 scopus 로고    scopus 로고
    • Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
    • Gold B, Merriam JE, Zernant J, et al. (2006): Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 38: 458-462.
    • (2006) Nat Genet , vol.38 , pp. 458-462
    • Gold, B.1    Merriam, J.E.2    Zernant, J.3
  • 27
    • 0035024249 scopus 로고    scopus 로고
    • Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration
    • Guymer RH, Heon E, Lotery AJ, et al. (2001): Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol 119: 745-751.
    • (2001) Arch Ophthalmol , vol.119 , pp. 745-751
    • Guymer, R.H.1    Heon, E.2    Lotery, A.J.3
  • 28
    • 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. (2005): A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 102: 7227-7232.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 7227-7232
    • Hageman, G.S.1    Anderson, D.H.2    Johnson, L.V.3
  • 29
    • 33847153137 scopus 로고    scopus 로고
    • Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: Characterization, ethnic distribution and evolutionary implications
    • Hageman GS, Hancox LS, Taiber AJ, et al. (2006): Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications. Ann Med 38: 592-604.
    • (2006) Ann Med , vol.38 , pp. 592-604
    • Hageman, G.S.1    Hancox, L.S.2    Taiber, A.J.3
  • 30
    • 4644293303 scopus 로고    scopus 로고
    • Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration
    • Hahn P, Qian Y, Dentchev T, Chen L, Beard J, Harris ZL, &, Dunaief JL, (2004): Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. Proc Natl Acad Sci USA 101: 13850-13855.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 13850-13855
    • Hahn, P.1    Qian, Y.2    Dentchev, T.3    Chen, L.4    Beard, J.5    Harris, Z.L.6    Dunaief, J.L.7
  • 31
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • HapMap CI, (2003): The International HapMap Project. Nature 426: 789-796.
    • (2003) Nature , vol.426 , pp. 789-796
    • Hapmap, C.I.1
  • 32
    • 6344263596 scopus 로고    scopus 로고
    • Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: Genetic variation in laminin genes and in exon 104 of HEMICENTIN-1
    • Hayashi M, Merriam JE, Klaver CC, et al. (2004): Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. Ophthalmic Genet 25: 111-119.
    • (2004) Ophthalmic Genet , vol.25 , pp. 111-119
    • Hayashi, M.1    Merriam, J.E.2    Klaver, C.C.3
  • 33
    • 33749123246 scopus 로고    scopus 로고
    • A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
    • Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, &, Chakravarthy U, (2006): A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet 38: 1173-1177.
    • (2006) Nat Genet , vol.38 , pp. 1173-1177
    • Hughes, A.E.1    Orr, N.2    Esfandiary, H.3    Diaz-Torres, M.4    Goodship, T.5    Chakravarthy, U.6
  • 36
    • 27244461122 scopus 로고    scopus 로고
    • Genome-wide analyses demonstrate novel loci that predispose to drusen formation
    • Jun G, Klein BE, Klein R, et al. (2005): Genome-wide analyses demonstrate novel loci that predispose to drusen formation. Invest Ophthalmol Vis Sci 46: 3081-3088.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 3081-3088
    • Jun, G.1    Klein, B.E.2    Klein, R.3
  • 37
    • 36049042661 scopus 로고    scopus 로고
    • A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
    • Kanda A, Chen W, Othman M, et al. (2007): A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci USA 104: 16227-16232.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 16227-16232
    • Kanda, A.1    Chen, W.2    Othman, M.3
  • 39
    • 33749143628 scopus 로고    scopus 로고
    • Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration
    • Kaur I, Hussain A, Hussain N, et al. (2006): Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration. Invest Ophthalmol Vis Sci 47: 3729-3735.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 3729-3735
    • Kaur, I.1    Hussain, A.2    Hussain, N.3
  • 40
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein RJ, Zeiss C, Chew EY, et al. (2005): Complement factor H polymorphism in age-related macular degeneration. Science 308: 385-389.
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1    Zeiss, C.2    Chew, E.Y.3
  • 42
    • 0037388460 scopus 로고    scopus 로고
    • The risk and natural course of age-related maculopathy: Follow-up at 6 1/2 years in the Rotterdam study
    • van Leeuwen R, Klaver CC, Vingerling JR, Hofman A, &, de Jong PT, (2003): The risk and natural course of age-related maculopathy: follow-up at 6 1/2 years in the Rotterdam study. Arch Ophthalmol 121: 519-526.
    • (2003) Arch Ophthalmol , vol.121 , pp. 519-526
    • Van Leeuwen, R.1    Klaver, C.C.2    Vingerling, J.R.3    Hofman, A.4    De Jong, P.T.5
  • 43
    • 33748325757 scopus 로고    scopus 로고
    • CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration
    • Li M, Atmaca-Sonmez P, &, Othman M, (2006): CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 38: 1049-1054.
    • (2006) Nat Genet , vol.38 , pp. 1049-1054
    • Li, M.1    Atmaca-Sonmez, P.2    Othman, M.3
  • 44
    • 0041886495 scopus 로고    scopus 로고
    • Age-related macular degeneration - A genome scan in extended families
    • Majewski J, Schultz DW, Weleber RG, et al. (2003): Age-related macular degeneration-a genome scan in extended families. Am J Hum Genet 73: 540-550.
    • (2003) Am J Hum Genet , vol.73 , pp. 540-550
    • Majewski, J.1    Schultz, D.W.2    Weleber, R.G.3
  • 45
    • 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, &, Seddon JM, (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    Seddon, J.M.6
  • 46
    • 2442453475 scopus 로고    scopus 로고
    • Differential expression of angioregulatory factors in normal and CNV-derived human retinal pigment epithelium
    • Martin G, Schlunck G, Hansen LL, &, Agostini HT, (2004): Differential expression of angioregulatory factors in normal and CNV-derived human retinal pigment epithelium. Graefes Arch Clin Exp Ophthalmol 242: 321-326.
    • (2004) Graefes Arch Clin Exp Ophthalmol , vol.242 , pp. 321-326
    • Martin, G.1    Schlunck, G.2    Hansen, L.L.3    Agostini, H.T.4
  • 47
    • 47049092197 scopus 로고    scopus 로고
    • SNP analysis to results (SNPator): A web-based environment oriented to statistical genomics analyses upon SNP data
    • Morcillo-Suarez C, Alegre J, Sangros R, et al. (2008): SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data. Bioinformatics 24: 1643-1644.
    • (2008) Bioinformatics , vol.24 , pp. 1643-1644
    • Morcillo-Suarez, C.1    Alegre, J.2    Sangros, R.3
  • 48
    • 0034012166 scopus 로고    scopus 로고
    • Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease
    • Mullins RF, Russell SR, Anderson DH, &, Hageman GS, (2000): Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease. FASEB J 14: 835-846.
    • (2000) FASEB J , vol.14 , pp. 835-846
    • Mullins, R.F.1    Russell, S.R.2    Anderson, D.H.3    Hageman, G.S.4
  • 50
    • 44649138189 scopus 로고    scopus 로고
    • Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration
    • Ormsby RJ, Ranganathan S, Tong JC, et al. (2008): Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 49: 1763-1770.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 1763-1770
    • Ormsby, R.J.1    Ranganathan, S.2    Tong, J.C.3
  • 51
    • 0037378714 scopus 로고    scopus 로고
    • Mice without uPA, tPA, or plasminogen genes are resistant to experimental choroidal neovascularization
    • Rakic JM, Lambert V, Munaut C, et al. (2003): Mice without uPA, tPA, or plasminogen genes are resistant to experimental choroidal neovascularization. Invest Ophthalmol Vis Sci 44: 1732-1739.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 1732-1739
    • Rakic, J.M.1    Lambert, V.2    Munaut, C.3
  • 53
    • 36749029616 scopus 로고    scopus 로고
    • A tag-single nucleotide polymorphisms approach to the vascular endothelial growth factor-A gene in age-related macular degeneration
    • Richardson AJ, Islam FM, Guymer RH, Cain M, &, Baird PN, (2007): A tag-single nucleotide polymorphisms approach to the vascular endothelial growth factor-A gene in age-related macular degeneration. Mol Vis 13: 2148-2152.
    • (2007) Mol Vis , vol.13 , pp. 2148-2152
    • Richardson, A.J.1    Islam, F.M.2    Guymer, R.H.3    Cain, M.4    Baird, P.N.5
  • 54
    • 0033804333 scopus 로고    scopus 로고
    • A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
    • Rivera A, White K, Stohr H, et al. (2000): A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet 67: 800-813.
    • (2000) Am J Hum Genet , vol.67 , pp. 800-813
    • Rivera, A.1    White, K.2    Stohr, H.3
  • 55
    • 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, Keilhauer CN, Lichtner P, Meitinger T, &, Weber BH, (2005): 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 14: 3227-3236.
    • (2005) Hum Mol Genet , vol.14 , pp. 3227-3236
    • Rivera, A.1    Fisher, S.A.2    Fritsche, L.G.3    Keilhauer, C.N.4    Lichtner, P.5    Meitinger, T.6    Weber, B.H.7
  • 56
    • 0038238315 scopus 로고    scopus 로고
    • Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy
    • Schmidt S, Postel EA, Agarwal A, et al. (2003): Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy. Invest Ophthalmol Vis Sci 44: 2868-2875.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 2868-2875
    • Schmidt, S.1    Postel, E.A.2    Agarwal, A.3
  • 58
    • 33646070308 scopus 로고    scopus 로고
    • Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration
    • Schmidt S, Hauser MA, Scott WK, et al. (2006): Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet 78: 852-864.
    • (2006) Am J Hum Genet , vol.78 , pp. 852-864
    • Schmidt, S.1    Hauser, M.A.2    Scott, W.K.3
  • 60
    • 0031022320 scopus 로고    scopus 로고
    • Familial aggregation of age-related maculopathy
    • Seddon JM, Ajani UA, &, Mitchell BD, (1997): Familial aggregation of age-related maculopathy. Am J Ophthalmol 123: 199-206.
    • (1997) Am J Ophthalmol , vol.123 , pp. 199-206
    • Seddon, J.M.1    Ajani, U.A.2    Mitchell, B.D.3
  • 61
    • 33746382236 scopus 로고    scopus 로고
    • Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population
    • Seitsonen S, Lemmela S, Holopainen J, et al. (2006): Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population. Mol Vis 12: 796-801.
    • (2006) Mol Vis , vol.12 , pp. 796-801
    • Seitsonen, S.1    Lemmela, S.2    Holopainen, J.3
  • 62
    • 0035510172 scopus 로고    scopus 로고
    • Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
    • Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, &, Lupski JR, (2001): Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum Mol Genet 10: 2671-2678.
    • (2001) Hum Mol Genet , vol.10 , pp. 2671-2678
    • Shroyer, N.F.1    Lewis, R.A.2    Yatsenko, A.N.3    Wensel, T.G.4    Lupski, J.R.5
  • 63
    • 34247573496 scopus 로고    scopus 로고
    • Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration
    • Skerka C, Lauer N, Weinberger AA, et al. (2007): Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. Mol Immunol 44: 3398-3406.
    • (2007) Mol Immunol , vol.44 , pp. 3398-3406
    • Skerka, C.1    Lauer, N.2    Weinberger, A.A.3
  • 65
    • 70350238360 scopus 로고    scopus 로고
    • Unraveling a multifactorial late-onset disease: From genetic susceptibility to disease mechanisms for age-related macular degeneration
    • Swaroop A, Chew EY, Rickman CB, &, Abecasis GR, (2009): Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet 10: 19-43.
    • (2009) Annu Rev Genomics Hum Genet , vol.10 , pp. 19-43
    • Swaroop, A.1    Chew, E.Y.2    Rickman, C.B.3    Abecasis, G.R.4
  • 66
    • 33846938264 scopus 로고    scopus 로고
    • A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population
    • Tanimoto S, Tamura H, Ue T, Yamane K, Maruyama H, Kawakami H, &, Kiuchi Y, (2007): A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population. Neurosci Lett 414: 71-74.
    • (2007) Neurosci Lett , vol.414 , pp. 71-74
    • Tanimoto, S.1    Tamura, H.2    Ue, T.3    Yamane, K.4    Maruyama, H.5    Kawakami, H.6    Kiuchi, Y.7
  • 68
    • 33645741145 scopus 로고    scopus 로고
    • The SNPlex genotyping system: A flexible and scalable platform for SNP genotyping
    • Tobler AR, Short S, Andersen MR, et al. (2005): The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping. J Biomol Tech 16: 398-406.
    • (2005) J Biomol Tech , vol.16 , pp. 398-406
    • Tobler, A.R.1    Short, S.2    Andersen, M.R.3
  • 70
    • 3242703945 scopus 로고    scopus 로고
    • Age-related maculopathy: A genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions
    • Weeks DE, Conley YP, Tsai HJ, et al. (2004): Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet 75: 174-189.
    • (2004) Am J Hum Genet , vol.75 , pp. 174-189
    • Weeks, D.E.1    Conley, Y.P.2    Tsai, H.J.3
  • 72
    • 34547764305 scopus 로고    scopus 로고
    • Complement C3 variant and the risk of age-related macular degeneration
    • Yates JR, Sepp T, Matharu BK, et al. (2007): Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 357: 553-561.
    • (2007) N Engl J Med , vol.357 , pp. 553-561
    • Yates, J.R.1    Sepp, T.2    Matharu, B.K.3
  • 73
    • 34447581121 scopus 로고    scopus 로고
    • Biochemical analysis of a common human polymorphism associated with age-related macular degeneration
    • Yu J, Wiita P, Kawaguchi R, Honda J, Jorgensen A, Zhang K, Fischetti VA, &, Sun H, (2007): Biochemical analysis of a common human polymorphism associated with age-related macular degeneration. Biochemistry 46: 8451-8461.
    • (2007) Biochemistry , vol.46 , pp. 8451-8461
    • Yu, J.1    Wiita, P.2    Kawaguchi, R.3    Honda, J.4    Jorgensen, A.5    Zhang, K.6    Fischetti, V.A.7    Sun, H.8


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