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Volumn 48, Issue 9, 2007, Pages 4277-4283

Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; COMPLEMENT FACTOR H, HUMAN; UNCLASSIFIED DRUG;

EID: 35148839857     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-1427     Document Type: Article
Times cited : (21)

References (47)
  • 1
    • 0003467256 scopus 로고    scopus 로고
    • Berger J, Fine S, Maguire M, eds, St. Louis: Mosby;
    • Berger J, Fine S, Maguire M, eds. Age-Related Macular Degeneration. St. Louis: Mosby; 1999.
    • (1999) Age-Related Macular Degeneration
  • 2
    • 11144354339 scopus 로고    scopus 로고
    • Prevalence of age-related macular degeneration in the United States
    • Friedman DS, O'Colmain BJ, Munoz B, et al. Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol. 2004;122:564-572.
    • (2004) Arch Ophthalmol , vol.122 , pp. 564-572
    • Friedman, D.S.1    O'Colmain, B.J.2    Munoz, B.3
  • 3
    • 0038708118 scopus 로고    scopus 로고
    • Age-related macular degeneration: Etiology, pathogenesis, and therapeutic strategies
    • Ambati J, Ambati BK, Yoo SH, Ianchulev S, Adamis AP. Age-related macular degeneration: etiology, pathogenesis, and therapeutic strategies. Surv Ophthalmol 2003;48:257-293.
    • (2003) Surv Ophthalmol , vol.48 , pp. 257-293
    • Ambati, J.1    Ambati, B.K.2    Yoo, S.H.3    Ianchulev, S.4    Adamis, A.P.5
  • 4
    • 6344241300 scopus 로고    scopus 로고
    • The epidemiology of age-related macular degeneration
    • Seddon JM, Chen CA. The epidemiology of age-related macular degeneration. Int Ophthalmol Clin. 2004;44:17-39.
    • (2004) Int Ophthalmol Clin , vol.44 , pp. 17-39
    • Seddon, J.M.1    Chen, C.A.2
  • 6
    • 3042662037 scopus 로고    scopus 로고
    • Risk factors for incident age-related macular degeneration: Pooled findings from 3 continents
    • Tomany SC, Wang JJ, Van LR, et al. Risk factors for incident age-related macular degeneration: pooled findings from 3 continents. Ophthalmology. 2004;111:1280-1287.
    • (2004) Ophthalmology , vol.111 , pp. 1280-1287
    • Tomany, S.C.1    Wang, J.J.2    Van, L.R.3
  • 7
    • 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. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet. 2006;78:852-864.
    • (2006) Am J Hum Genet , vol.78 , pp. 852-864
    • Schmidt, S.1    Hauser, M.A.2    Scott, W.K.3
  • 8
  • 10
    • 0035425830 scopus 로고    scopus 로고
    • Risk of incident age-related eye diseases in people with an affected sibling: The Beaver Dam Eye Study
    • Klein BE, Klein R, Lee KE, Moore EL, Danforth L. Risk of incident age-related eye diseases in people with an affected sibling: The Beaver Dam Eye Study. Am J Epidemiol. 2001;154:207-211.
    • (2001) Am J Epidemiol , vol.154 , pp. 207-211
    • Klein, B.E.1    Klein, R.2    Lee, K.E.3    Moore, E.L.4    Danforth, L.5
  • 11
    • 0028298094 scopus 로고
    • Sibling correlations and segregation analysis of age-related maculopathy: The Beaver Dam Eye Study
    • Heiba IM, Elston RC, Klein BE, Klein R. Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study. Genet Epidemiol. 1994;11:51-67.
    • (1994) Genet Epidemiol , vol.11 , pp. 51-67
    • Heiba, I.M.1    Elston, R.C.2    Klein, B.E.3    Klein, R.4
  • 12
    • 0028244159 scopus 로고
    • Heredity and age-related macular degeneration: Observations in monozygotic twins
    • Klein ML, Mauldin WM, Stoumbos VD. Heredity and age-related macular degeneration: observations in monozygotic twins. Arch Ophthalmol. 1994;112:932-937.
    • (1994) Arch Ophthalmol , vol.112 , pp. 932-937
    • Klein, M.L.1    Mauldin, W.M.2    Stoumbos, V.D.3
  • 13
    • 0028610188 scopus 로고
    • A twin study on age-related macular degeneration
    • Meyers SM. A twin study on age-related macular degeneration. Trans Am Ophthalmol Soc. 1994;92:775-843.
    • (1994) Trans Am Ophthalmol Soc , vol.92 , pp. 775-843
    • Meyers, S.M.1
  • 14
    • 0028875171 scopus 로고
    • A twin study of age-related macular degeneration
    • Meyers SM, Greene T, Gutman FA. A twin study of age-related macular degeneration. Am J Ophthalmol. 1995;120:757-766.
    • (1995) Am J Ophthalmol , vol.120 , pp. 757-766
    • Meyers, S.M.1    Greene, T.2    Gutman, F.A.3
  • 17
    • 14944364782 scopus 로고    scopus 로고
    • The US twin study of age-related macular degeneration: Relative roles of genetic and environmental influences
    • Seddon JM, Cote J, Page WF, Aggen SH, Neale MC. The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch Ophthalmol. 2005;123:321-327.
    • (2005) Arch Ophthalmol , vol.123 , pp. 321-327
    • Seddon, J.M.1    Cote, J.2    Page, W.F.3    Aggen, S.H.4    Neale, M.C.5
  • 18
    • 23944478239 scopus 로고    scopus 로고
    • Meta-analysis of genome scans of age-related macular degeneration
    • Fisher SA, Abecasis GR, Yashar BM, et al. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. 2005;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
    • 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 USA. 2005;102:7227-7232, 2005.
    • (2005) Proc Natl Acad Sci USA , vol.2005 , Issue.102 , pp. 7227-7232
    • Hageman, G.S.1    Anderson, D.H.2    Johnson, L.V.3
  • 20
    • 23944475451 scopus 로고    scopus 로고
    • Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy
    • Conley YP, Thalamuthu A, Jakobsdottir J, et al. Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. Hum Mol Genet. 2005;14:1991-2002.
    • (2005) Hum Mol Genet , vol.14 , pp. 1991-2002
    • Conley, Y.P.1    Thalamuthu, A.2    Jakobsdottir, J.3
  • 22
    • 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
  • 23
    • 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
  • 24
    • 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
  • 25
    • 29944437979 scopus 로고    scopus 로고
    • Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population
    • Souied EH, Leveziel N, Richard F, et al. Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis. 2005;11:1135-1140.
    • (2005) Mol Vis , vol.11 , pp. 1135-1140
    • Souied, E.H.1    Leveziel, N.2    Richard, F.3
  • 26
    • 20544471911 scopus 로고    scopus 로고
    • Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration
    • Zareparsi S, Branham KE, Li M, et al. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet. 2005;77:149-153.
    • (2005) Am J Hum Genet , vol.77 , pp. 149-153
    • Zareparsi, S.1    Branham, K.E.2    Li, M.3
  • 27
    • 33748752137 scopus 로고    scopus 로고
    • Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration Hum
    • Thakkinstian A, Han P, McEvoy M, et al. Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration Hum Mol Genet. 2006;15:2784-2790.
    • (2006) Mol Genet , vol.15 , pp. 2784-2790
    • Thakkinstian, A.1    Han, P.2    McEvoy, M.3
  • 29
    • 33748309136 scopus 로고    scopus 로고
    • Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration
    • Maller J, George S, Purcell S, et al. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet. 2006;38:1055-1059.
    • (2006) Nat Genet , vol.38 , pp. 1055-1059
    • Maller, J.1    George, S.2    Purcell, S.3
  • 30
    • 33750201885 scopus 로고    scopus 로고
    • CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses
    • Conley YP, Jakobsdottir J, Mah T, et al. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet. 2006;15:3206-3218.
    • (2006) Hum Mol Genet , vol.15 , pp. 3206-3218
    • Conley, Y.P.1    Jakobsdottir, J.2    Mah, T.3
  • 31
    • 33645419787 scopus 로고    scopus 로고
    • Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
    • and the AMA Genetics Clinical Study Group
    • Gold B, Merriam JC, Zernant J, et al., and the AMA Genetics Clinical Study Group. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006;38:458-462.
    • (2006) Nat Genet , vol.38 , pp. 458-462
    • Gold, B.1    Merriam, J.C.2    Zernant, J.3
  • 32
    • 33644676878 scopus 로고    scopus 로고
    • Complement factor H polymorphisms in Japanese population with age-related macular degeneration
    • Okamoto H, Umeda S, Obazawa M, et al. Complement factor H polymorphisms in Japanese population with age-related macular degeneration. Mol Vis. 2006;12:156-158.
    • (2006) Mol Vis , vol.12 , pp. 156-158
    • Okamoto, H.1    Umeda, S.2    Obazawa, M.3
  • 33
    • 33748325757 scopus 로고    scopus 로고
    • CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration
    • Li M, Tmaca-Sonmez P, Othman M, et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet. 2006;38:1049-1054.
    • (2006) Nat Genet , vol.38 , pp. 1049-1054
    • Li, M.1    Tmaca-Sonmez, P.2    Othman, M.3
  • 34
    • 0033436360 scopus 로고    scopus 로고
    • The Age-Related Eye Disease Study (AREDS): Design implications. AREDS report no. 1
    • The Age-Related Eye Disease Study (AREDS): design implications. AREDS report no. 1. Control Clin Trials. 1999;20:573-600.
    • (1999) Control Clin Trials , vol.20 , pp. 573-600
  • 35
    • 17344378709 scopus 로고    scopus 로고
    • Association of the Apolipoprotein E gene with age-related macular degeneration: Possible effect modification by family history, age, and gender
    • Schmidt S, Saunders AM, De La Paz MA, et al. Association of the Apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis. 2000;31:287-293.
    • (2000) Mol Vis , vol.31 , pp. 287-293
    • Schmidt, S.1    Saunders, A.M.2    De La Paz, M.A.3
  • 36
    • 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
  • 37
    • 0036155283 scopus 로고    scopus 로고
    • Score tests for association between traits and haplotypes when linkage phase is ambiguous
    • Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet. 2002;70:425-434.
    • (2002) Am J Hum Genet , vol.70 , pp. 425-434
    • Schaid, D.J.1    Rowland, C.M.2    Tines, D.E.3    Jacobson, R.M.4    Poland, G.A.5
  • 38
    • 0028305380 scopus 로고
    • Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease
    • Corder EH, Saunders AM, Risch NJ, et al. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet. 1994;7:180-184.
    • (1994) Nat Genet , vol.7 , pp. 180-184
    • Corder, E.H.1    Saunders, A.M.2    Risch, N.J.3
  • 39
    • 0347992868 scopus 로고    scopus 로고
    • Family-based tests for associating haplotypes with general phenotype data: Application to asthma genetics
    • Horvath S, Xu X, Lake SL, Silverman SK, Weiss ST, Laird NM. Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol. 2004;26:61-69.
    • (2004) Genet Epidemiol , vol.26 , pp. 61-69
    • Horvath, S.1    Xu, X.2    Lake, S.L.3    Silverman, S.K.4    Weiss, S.T.5    Laird, N.M.6
  • 40
    • 0041672374 scopus 로고    scopus 로고
    • Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous
    • Lake SL, Lyon H, Tantisira K, et al. Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous. Hum Hered. 2003;55:56-65.
    • (2003) Hum Hered , vol.55 , pp. 56-65
    • Lake, S.L.1    Lyon, H.2    Tantisira, K.3
  • 42
    • 0011647956 scopus 로고
    • Regulation by membrane sialic acid of beta1H-dependent decay-dissociation of amplification C3 convertase of the alternative complement pathway
    • Fearon DT. Regulation by membrane sialic acid of beta1H-dependent decay-dissociation of amplification C3 convertase of the alternative complement pathway. Proc Natl Acad Sci USA. 1978;75:1971-1975.
    • (1978) Proc Natl Acad Sci USA , vol.75 , pp. 1971-1975
    • Fearon, D.T.1
  • 43
    • 0018670850 scopus 로고
    • Surface-associated heparin inhibits zymosan-induced activation of the human alternative complement pathway by augmenting the regulatory action of the control proteins on particle-bound C3b
    • Kazatchkine MD, Fearon DT, Silbert JE, Austen KF. Surface-associated heparin inhibits zymosan-induced activation of the human alternative complement pathway by augmenting the regulatory action of the control proteins on particle-bound C3b. J Exp Med. 1979;150:1202-1215.
    • (1979) J Exp Med , vol.150 , pp. 1202-1215
    • Kazatchkine, M.D.1    Fearon, D.T.2    Silbert, J.E.3    Austen, K.F.4
  • 44
    • 0021274453 scopus 로고
    • C-reactive protein inhibits pneumococcal activation of the alternative pathway by increasing the interaction between factor H and C3b
    • Mold C, Kingzette M, Gewurz H. C-reactive protein inhibits pneumococcal activation of the alternative pathway by increasing the interaction between factor H and C3b. J Immunol. 1984;133:882-885.
    • (1984) J Immunol , vol.133 , pp. 882-885
    • Mold, C.1    Kingzette, M.2    Gewurz, H.3
  • 45
    • 33845776114 scopus 로고    scopus 로고
    • No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population
    • Uka J, Tamura H, Kobayashi T, et al. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population. Retina. 2006;26:985-987.
    • (2006) Retina , vol.26 , pp. 985-987
    • Uka, J.1    Tamura, H.2    Kobayashi, T.3
  • 46
    • 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, et al. Polymorphisms in complement factor H and hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration. Am J Ophthalmol. 2006;142:1074-1076.
    • (2006) Am J Ophthalmol , vol.142 , pp. 1074-1076
    • Fuse, N.1    Miyazawa, A.2    Mengkegale, M.3
  • 47
    • 2442580225 scopus 로고    scopus 로고
    • Genetic and environmental factors influencing the human factor H plasma levels
    • Esparza-Gordilla J, Soria JM, Buil A, et al. Genetic and environmental factors influencing the human factor H plasma levels. Immunogenetics. 2004;56:77-82.
    • (2004) Immunogenetics , vol.56 , pp. 77-82
    • Esparza-Gordilla, J.1    Soria, J.M.2    Buil, A.3


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