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Volumn 38, Issue 4, 2006, Pages 458-462

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C2; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 3; REGULATOR PROTEIN;

EID: 33645419787     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1750     Document Type: Article
Times cited : (960)

References (30)
  • 2
    • 1542297335 scopus 로고    scopus 로고
    • The epidemiology of age-related macular degeneration
    • Klein, R., Peto, T., Bird, A. & Vannewkirk, M.R. The epidemiology of age-related macular degeneration. Am. J. Ophthalmol. 137, 486-495 (2004).
    • (2004) Am. J. Ophthalmol. , vol.137 , pp. 486-495
    • Klein, R.1    Peto, T.2    Bird, A.3    Vannewkirk, M.R.4
  • 3
    • 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, G.S. 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 102, 7227-7232 (2005).
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 7227-7232
    • Hageman, G.S.1
  • 4
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • Edwards, A.O. et al. Complement factor H polymorphism and age-related macular degeneration. Science 308, 421-424 (2005).
    • (2005) Science , vol.308 , pp. 421-424
    • Edwards, A.O.1
  • 5
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of age-related macular degeneration
    • Haines, J.L. et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 308, 419-421 (2005).
    • (2005) Science , vol.308 , pp. 419-421
    • Haines, J.L.1
  • 6
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein, R.J. et al. Complement factor H polymorphism in age-related macular degeneration. Science 308, 385-389 (2005).
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1
  • 7
    • 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. 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. 77, 149-153 (2005).
    • (2005) Am. J. Hum. Genet. , vol.77 , pp. 149-153
    • Zareparsi, S.1
  • 8
    • 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, Y.P. 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. 14, 1991-2002 (2005).
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1991-2002
    • Conley, Y.P.1
  • 9
    • 0036741098 scopus 로고    scopus 로고
    • A role for local inflammation in the formation of drusen in the aging eye
    • Anderson, D.H., Mullins, R.F., Hageman, G.S. & Johnson, L.V. A role for local inflammation in the formation of drusen in the aging eye. Am. J. Ophthalmol. 134, 411-431 (2002).
    • (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
  • 10
    • 0034832029 scopus 로고    scopus 로고
    • An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration
    • Hageman, G.S. et al. An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration. Prog. Retin. Eye Res. 20, 705-732 (2001).
    • (2001) Prog. Retin. Eye Res. , vol.20 , pp. 705-732
    • Hageman, G.S.1
  • 11
    • 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, R.F., Russell, S.R., Anderson, D.H. & Hageman, G.S. 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).
    • (2000) FASEB J. , vol.14 , pp. 835-846
    • Mullins, R.F.1    Russell, S.R.2    Anderson, D.H.3    Hageman, G.S.4
  • 12
    • 0035699547 scopus 로고    scopus 로고
    • Complement activation and inflammatory processes in Drusen formation and age related macular degeneration
    • Johnson, L.V., Leitner, W.P., Staples, M.K. & Anderson, D.H. Complement activation and inflammatory processes in Drusen formation and age related macular degeneration. Exp. Eye Res. 73, 887-896 (2001).
    • (2001) Exp. Eye Res. , vol.73 , pp. 887-896
    • Johnson, L.V.1    Leitner, W.P.2    Staples, M.K.3    Anderson, D.H.4
  • 13
    • 11144258543 scopus 로고    scopus 로고
    • Drusen proteome analysis: An approach to the etiology of age-related macular degeneration
    • Crabb, J.W. et al. Drusen proteome analysis: an approach to the etiology of age-related macular degeneration. Proc. Natl. Acad. Sci. USA 99, 14682-14687 (2002).
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 14682-14687
    • Crabb, J.W.1
  • 14
    • 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. USA 102, 7053-7054 (2005).
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 7053-7054
    • Bok, D.1
  • 15
    • 0025874771 scopus 로고
    • Complement deficiency and disease
    • Morgan, B.P. & Walport, M.J. Complement deficiency and disease. Immunol. Today 12, 301-306 (1991).
    • (1991) Immunol. Today , vol.12 , pp. 301-306
    • Morgan, B.P.1    Walport, M.J.2
  • 16
    • 0025868501 scopus 로고
    • Biology of complement: The overture
    • Kinoshita, T. Biology of complement: the overture. Immunol. Today 12, 291-295 (1991).
    • (1991) Immunol. Today , vol.12 , pp. 291-295
    • Kinoshita, T.1
  • 17
    • 2442667974 scopus 로고    scopus 로고
    • The alternative pathway of complement in disease: Opportunities for therapeutic targeting
    • Holers, V.M. & Thurman, J.M. The alternative pathway of complement in disease: opportunities for therapeutic targeting. Mol. Immunol. 41, 147-152 (2004).
    • (2004) Mol. Immunol. , vol.41 , pp. 147-152
    • Holers, V.M.1    Thurman, J.M.2
  • 18
    • 0026044026 scopus 로고
    • Allelic differences in hemolytic activity and protein concentration of BF molecules are found in association with particular HLA haplotypes
    • Lokki, M.L. & Koskimies, S.A. Allelic differences in hemolytic activity and protein concentration of BF molecules are found in association with particular HLA haplotypes. Immunogenetics 34, 242-246 (1991).
    • (1991) Immunogenetics , vol.34 , pp. 242-246
    • Lokki, M.L.1    Koskimies, S.A.2
  • 20
    • 0018383168 scopus 로고
    • Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex. Am
    • Raum, D., Glass, D., Carpenter, C.B., Schur, P.H. & Alper, C.A. Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex. Am. J. Hum. Genet. 31, 35-41 (1979).
    • (1979) J. Hum. Genet. , vol.31 , pp. 35-41
    • Raum, D.1    Glass, D.2    Carpenter, C.B.3    Schur, P.H.4    Alper, C.A.5
  • 21
    • 10744229857 scopus 로고    scopus 로고
    • Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency
    • Alper, C.A. et al. Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency. J. Clin. Immunol. 23, 297-305 (2003).
    • (2003) J. Clin. Immunol. , vol.23 , pp. 297-305
    • Alper, C.A.1
  • 22
    • 3042569525 scopus 로고    scopus 로고
    • Complete MHC haplotype sequencing for common disease gene mapping
    • Stewart, C.A. et al. Complete MHC haplotype sequencing for common disease gene mapping. Genome Res. 14, 1176-1187 (2004).
    • (2004) Genome Res. , vol.14 , pp. 1176-1187
    • Stewart, C.A.1
  • 23
    • 4444303972 scopus 로고    scopus 로고
    • The genetics of HLA-associated disease
    • Larsen, C.E. & Alper, C.A. The genetics of HLA-associated disease. Curr. Opin. Immunol. 16, 660-667 (2004).
    • (2004) Curr. Opin. Immunol. , vol.16 , pp. 660-667
    • Larsen, C.E.1    Alper, C.A.2
  • 24
    • 26844482093 scopus 로고    scopus 로고
    • Fine-scale map of recombination rates and hotspots across the human genome
    • Myers, S., Bottolo, L., Freeman, C., McVean, G. & Donnelly, P.A. Fine-scale map of recombination rates and hotspots across the human genome. Science 310, 321-324 (2005).
    • (2005) Science , vol.310 , pp. 321-324
    • Myers, S.1    Bottolo, L.2    Freeman, C.3    McVean, G.4    Donnelly, P.A.5
  • 25
    • 20444471500 scopus 로고    scopus 로고
    • Association of HLA class I and class II polymorphisms with age-related macular degeneration
    • Goverdhan, S.V. et al. Association of HLA class I and class II polymorphisms with age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 46, 1726-1734 (2005).
    • (2005) Invest. Ophthalmol. Vis. Sci. , vol.46 , pp. 1726-1734
    • Goverdhan, S.V.1
  • 26
    • 0028934221 scopus 로고
    • An international classification and grading system for age-related maculopathy and age-related macular degeneration
    • The International ARM Epidemiological Study Group
    • Bird, A.C. et al. An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv. Ophthalmol. 39, 367-374 (1995).
    • (1995) Surv. Ophthalmol. , vol.39 , pp. 367-374
    • Bird, A.C.1
  • 27
    • 0034852996 scopus 로고    scopus 로고
    • Incidence and progression rates of age-related maculopathy: The Rotterdam Study
    • Klaver, C.C. et al. Incidence and progression rates of age-related maculopathy: the Rotterdam Study. Invest. Ophthalmol. Vis. Sci. 42, 2237-2241 (2001).
    • (2001) Invest. Ophthalmol. Vis. Sci. , vol.42 , pp. 2237-2241
    • Klaver, C.C.1
  • 28
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • Allikmets, R. et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277, 1805-1807 (1997).
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1
  • 29
    • 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. et al. 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).
    • (2004) Ophthalmic Genet. , vol.25 , pp. 111-119
    • Hayashi, M.1
  • 30
    • 0001677717 scopus 로고
    • Controlling the false discovery rate - A practical and powerful approach to multiple testing
    • Benjamini, Y. & Hochberg, Y. Controlling the false discovery rate - a practical and powerful approach to multiple testing. J. R. Stat. Soc. Ser. B 57, 289-300 (1995).
    • (1995) J. R. Stat. Soc. Ser. B , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2


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