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Survey of Ophthalmology
Volume 55, Issue 3
, Pages 227-246
, May 2010
The Role of Complement Factor H in Age-related Macular Degeneration: A Review
References
- Variations in the complement regulatory genes factor H (cfh) and factor H related 5 (cfhr5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J Med Genet. 2006;43:582–589
- . Genetic variations associated with complex human diseases show wide cariation across multiple populations. Public Health Genomics. 2010;13(2):72–79
- . Genetic mapping in human disease. Science. 2008;322(5903):881–888
- Daf protects against T cell autoreactivity that leads to experiment autoimmune uveitis. Invest Ophthalmol Vis Sci. 2009;50(8):3778–3782
- A role for local inflammation in the formation of drusen in the aging eye. Am J Ophthalmol. 2002;134(3):411–431
- Local cellular sources of apolipoprotein e in the human retina and retinal pigmented epithelium: implications for the process of drusen formation. Am J Ophthalmol. 2001;131(6):767–781
- Characterization of beta amyloid assemblies in drusen: the deposits associated with aging and age-related macular degeneration. Exp Eye Res. 2004;78(2):243–256
- The role of complement in the adherence of microbubbles to dysfunctional arterial endothelium and atherosclerotic plaque. Cardiovasc Res. 2007;73(3):597–606
- Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. J Am Soc Nephrol. 2005;16(5):1392–1403
- . Immun-complex glomerulonephritis-deposits plus interest. N Eng J Med. 1993;328(7):466–470
- . The role of surface carbohydrates in the hepatic recognition and transport of circulating glycoproteins. Adv Enzymol Relat Areas Mol Biol. 1974;41:99–128
- C-reactive protein (CRP) elevation in patients with abdominal aortic aneurysm is independent of the most important CRP genetic polymorphism. J Vasc Surg. 2009;49(1):178–184
- . Complement factor H: using atomic resolution structure to illuminate disease mechanisms. Adv Exp Med Biol. 2008;632:117–142
- Original biomaterials preserved in dinosaur bone. Microsc Microcanal. 2007;13:52–54
- . Current and future therapies for age-related macular degeneration. Expert Opin Emerg Drugs. 2009;14(2):341–362
- Basic research studies to understand aneurysmal disease. Drug News Perspective. 2008;21:142
- Association of complement factor H and loc387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy. Eye. 2009;23:626–631
- Clinical phenotypes associated with the complement factor H y402h variant in age-related macular degeneration. Am J Ophthalmol. 2007;144:404–408
- Association of complement factor H and loc387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab. Ophthalmology. 2007;114:2168–2173
- Complement activation and subclassification of tissue immunoglobulin G in the abdominal aortic aneurysm. J Surg Res. 1996;65(1):31–33
- The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. J Am Soc Nephrol. 2001;12(2):297–307
- His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. J Biol Chem. 2006;281(34):24713–24720
- . A proteomic study of serum from children with autism showing differential expression of apolipoproteins and complement proteins. Mol Psychiatry. 2007;12:292–306
- . The human complement factor H: functional roles, genetic variations, and disease associations. Mol Immunol. 2004;41:355–367
- . Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H. Clin Exp Immunol. 2008;151(1):1–13
- Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA. 2006;296(3):301–309
- . Update on the human genome project. Clin Lab Med. 1995;15(4):973–988
- The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol. 2006;51(2):137–152
- S-antigen in the developing retina and pineal gland: a monoclonal antibody study. Invest Ophthalmol Vis Sci. 1985;26(4):561–567
- Metastatic choroidal melanoma: hepatic binding protein reactivity towards a live metastasinzing clone. Arch Ophthalmol. 1983;101:787–790
- S-antigen immunoreactivity in trilateral retinoblastoma. Am J Ophthalmol. 1987;103:357–362
- Oligosaccharide composition is similar in drusen and dense deposits in membranoproliferative glomerulonephritis type II. Kidney Int. 2009;75(8):824–827
- Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308(5720):421–424
- . The human genome project. History, goals, and progress to date. Arch Pathol Lab Med. 1993;117:459–465
- Analysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H. Arch Ophthalmol. 2008;126(11):1562–1566
- Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration. PLoS One. 2007;2(11):e1197
- Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006;38(4):458–462
- . Correlation between cfh y402h and htra rs11200638 genotype to typical exudative age-related macular degeneration and polypoidal choroidal vasculopaty phenotype in the japanese population. Clin Exp Ophthalmol. 2008;36:437–442
- Ethnic variation in AMD-associated complement factor H polymorphism. tyr402his. Hum Mutat. 2006;27:921–925
- Complement factor H polymorphism p.tyr402his and cuticular drusen. Arch Ophthalmol. 2007;125:93–97
- The Ashwell receptor mitigates the lethal coagulopathy of sepsis. Nat Med. 2008;14:648–655
- . A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001;409:928–932
- . The Human Genome Project and the future of medicine. Am J Dis Child. 1993;147(11):1145–1152
- Complement factor H allotype 402h is associated with increased c3b opsonization and phagocytosis of streptococcus pyogenes. Mol Microbiol. 2008;70(3):583–594
- Complement factor H gene polymorphisms and chlamydia pneumoniae infection in age-related macular degeneration. Eye. 2009;23:2228–2232
- The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol. 2006;51(4):316–363
- 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(20):7227–7232
- 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. 2006;38(8):592–604
- 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. 2001;20(6):705–732
- . Molecular composition of drusen as related to substructural phenotype. Mol Vis. 1999;5:28
- Vitronectin is a constituent of ocular drusen and the vitronectin gene is expressed in human retinal pigmented epithelial cells. FASEB J. 1999;13(3):477–484
- Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308(5720):419–421
- Measurement of factor H variants in plasma using variant-specific monoclonal antibodies: application to assessing risk of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2008;49(5):1983–1990
- Complement factor H y402h polymorphism is not associated with late-onset Alzheimer's disease. Neuromolecular Med. 2007;9(4):331–334
- Relapsing polychondritis, induced in mice with matrilin 1, is an antibody and complement-dependent disease. Am J Pathol. 2004;164:95–966
- Hemolytic uremic syndrome: a factor H mutation (e1172stop) causes defective complement control at the surface of endothelial cells. J Am Soc Nephrol. 2007;18:506–514
- De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Hum Mutat. 2006;27(3):292–293
- Structure shows that a glycosaminoglycan and protein recognition site in factor H is perturbed by age-related macular degeneration–linked single nucleotide polymorphism. J Biol Chem. 2007;282(26):18960–18968
- Disease-associated sequence variations congregate in a polyanion-recognition patch on human factor H revealed in 3d structure. J Biol Chem. 2006;281:16512–16520
- . Immunopathologic studies in relapsing polychondritis. J Clin Invest. 1973;52(3):549–558
- Identification and characterization of the factor H and fhl-1 binding complement regulator-acquiring surface protein 1 of the Lyme disease spirochete Borrelia spielmanii sp. nov. Int J Med Microbiol. 2009;299:141–154
- Human pathogenic Borrelia spielmanii sp. nov. resists complement-mediated killing by direct binding of immune regulators factor H and factor h–like protein 1. Infect Immun. 2007;75:4817–4825
- Structure of the n-terminal region of complement factor H and conformational implications of disease-linked sequence variations. J Biol Chem. 2008;283(14):9475–9487
- . The spectrum of complement alternative pathway–mediated diseases. Immunol Rev. 2008;223:300–316
- Identification and characterization of a linear-plasmid-encoded factor H–binding protein (fhba) of the relapsing fever spirochete borrelia hermsii. J Bacteriol. 2004;186(9):2612–2618
- A common cfh haplotype, with deletion of cfhr1 and cfhr3, is associated with lower risk of age-related macular degeneration. Nat Genet. 2006;38(10):1173–1177
- Neovascular age-related macular degeneration risk based on cfh, loc387715/htra1. smoking. PLoS Med. 2007;4(12):e355
- Long-term control of hiv by ccr5 delta32/delta32 stem-cell transplantation. N Engl J Med. 2009;360(7):692–698
- Haemolytic uraemic syndrome. Paediatrics and Child Health. 2008;18:364–368
- Successful liver–kidney transplantation in two children with aHUS caused by a mutation in complement factor H. Am J Transplant. 2008;8:216–221
- . Immunobiology: The Immune System in Health and Disease. ed 6. New York: Garland Science; 2005;
- Structure of compstatin in complex with complement component c3c reveals a new mechanism of complement inhibition. J Biol Chem. 2007;282(40):29241–29247
- The Alzheimer's a beta–peptide is deposited at sites of complement activation in pathologic deposits associated with aging and age-related macular degeneration. Proc Natl Acad Sci USA. 2002;99(18):11830–11835
- Individuals homozygous for the age-related macular degeneration risk–conferring variant of complement factor H have elevated levels of crp in the choroid. Proc Natl Acad Sci USA. 2006;103(46):17456–17461
- Factor H and atypical hemolytic uremic syndrome: mutations in the c-terminus cause structural changes and defective recognition functions. J Am Soc Nephrol. 2006;17(1):170–177
- Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with cfhr1/cfhr3 deficiency. Blood. 2008;111(3):1512–1514
- Anti factor H autoantibodies block c-terminal recognition function of factor H in hemolytic uremic syndrome. Blood. 2007;110(5):1516–1518
- . Factor H family proteins and human diseases. Trends Immunol. 2008;29(8):380–387
- Genetics of c-reactive protein and complement factor H have an epistatic effect on carotid artery compliance: the cardiovascular risk in young finns study. Clin Exp Immunol. 2009;155:53–58
- Complement factor H 402his variant confers an increased mortality risk in finnish nonagenarians: the vitality 90+ study. Exp Gerontol. 2009;44(4):297–299
- Rapid and sensitive method for detection of y402, h402, i62, and v62 variants of complement factor H in human plasma samples using mass spectrometry. Invest Ophthalmol Vis Sci. 2009;50(4):1540–1545
- Association between complement factor H gene polymorphisms and neovascular age related macular degeneration in Koreans. Invest Ophthalmol Vis Sci. 2008;49:2071–2076
- Cfh and loc387715/arms2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology. 2008;115(6):1019–1025
- Complement Factor H polymorphism in age related macular degeneration. Science. 2009;308:385–389
- Coding variant i62v in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy. Ophthalmology. 2009;116(2):304–310
- Chronic course of a hemolytic uremic syndrome caused by a deficiency of factor h–related proteins (cfhr1 and cfhr3). Kidney Int. 2008;74(3):384–388
- Immune evasion of borrelia burgdorferi: mapping of a complement-inhibitor factor h–binding site of bbcrasp-3, a novel member of the ERP protein family. Eur J Immunol. 2003;33(3):697–707
- . Aortic aneurysms: an immune disease with a strong genetic component. Circulation. 2008;117(2):242–252
- Y402h polymorphism of complement factor H affects binding affinity to c-reactive protein. J Immunol. 2007;178(6):3831–3836
- . Cfh and loc387715/arms2 genotypes and antioxidants and zinc therapy for age-related macular degeneration. Pharmacogenomics. 2008;9(10):1547–1550
- . Novel drug delivery systems for retinal diseases. A review. Ophthalmic Res. 2009;41(3):124–135
- Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms. BMC Genomics. 2007;8:237
- Immunological mimicry between retinal S-antigen and group a streptococcal m proteins. Autoimmunity. 1995;22(2):95–106
- CFH haplotypes without the y402h coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet. 2006;38(9):1049–1054
- Deletion of lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int. 2006;70(1):42–50
- Ocular manifestations of relapsing polychondritis. Retina. 1981;1(2):96–99
- . Complement factor H: spatial and temporal expression and localization in the eye. Invest Ophthalmol Vis Sci. 2006;47(9):4091–4097
- . The role of complement in inflammatory diseases from behind the scenes into the spotlight. Am J Pathol. 2007;171:715–727
- The complement factor H r1210c mutation is associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2008;19:639–646
- Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2009;50(2):533–539
- Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis. Mol Immunol. 2008;45(10):2897–2904
- Physical and chemical studies on ceruloplasmin. v. metabolic studies on sialic acid–free ceruloplasmin in vivo. J Biol Chem. 1968;243(1):155–159
- . Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis. Eye (Lond). 2001;15(Pt 3):390–395
- . Human ocular drusen possess novel core domains with a distinct carbohydrate composition. J Histochem Cytochem. 1999;47(12):1533–1540
- Characterization of drusen-associated glycoconjugates. Ophthalmology. 1997;104(2):288–294
- 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. 2000;14(7):835–846
- Factor H–related protein-5: a novel component of human glomerular immune deposits. Am J Kidney Dis. 2002;39(1):24–27
- Complement-regulator factor H and related proteins in otitis media with effusion. Clin Immunol. 2001;100(1):118–126
- Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: role of factor H abnormalities. J Am Soc Nephrol. 1999;10:281–293
- Functional and structural implications of the complement factor H y402h polymorphism associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2008;49(5):1763–1770
- Complement-dependent neutrophil recruitment is critical for the development of elastase-induced abdominal aortic aneurysm. Circulation. 2009;119(13):1805–1813
- Expression, purification, cocrystallization and preliminary crystallographic analysis of sucrose octasulfate/human complement regulator factor H scrs 6–8. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2007;63(Pt 6):480–483
- Progress and perspectives on the role of rpe cell inflammatory responses in the development of age-related macular degeneration. J Inflamm Res. 2008;1:49–65
- Binding of complement factor H to loop 5 of porin protein 1a: a molecular mechanism of serum resistance of nonsialylated neisseria gonorrhoeae. J Exp Med. 1998;188(4):671–680
- Genetic deficiency of c3 as well as CNS-targeted expression of the complement inhibitor sCrry ameliorates experimental autoimmune uveoretinitis. Exp Eye Res. 2006;82(3):389–394
- Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration. Am J Ophthalmol. 2000;129(2):205–214
- The interactive factor h–atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and factor I mutations with structural models. Hum Mutat. 2007;28(3):222–234
- Cigarette smoking strongly modifies the association of loc387715 and age-related macular degeneration. Am J Hum Genet. 2006;78(5):852–864
- Functional significance of factor H binding to neisseria meningitidis. J Immunol. 2006;176(12):7566–7575
- Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates. Nature. 2009;458(7240):890–893
- [y402h polymorphism in complement factor H and age-related macula degeneration (AMD)]. Ophthalmologe. 2005;102(11):1029–1035
- Association of cfh y402h and loc387715 a69s with progression of age-related macular degeneration. JAMA. 2007;297(16):1793–1800
- Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci. 2009;50(5):2044–2053
- . Peripheral retinal drusen and reticular pigment: association with cfhy402h and cfhrs1410996 genotypes in family and twin studies. Invest Ophthalmol Vis Sci. 2009;50(2):586–591
- Human sclera maintains common characteristics with cartilage throughout evolution. PLoS One. 2008;3(11):e3709
- Glomeruli of dense deposit disease contain components of the alternative and terminal complement pathway. Kidney Int. 2009;75(9):876–879
- Neovascular age-related macular degeneration and its association with loc387715 and complement factor H polymorphism. Arch Ophthalmol. 2007;125:63–67
- . Peripheral reticular pigmentary change is associated with complement factor H polymorphism (y402h) in age-related macular degeneration. Ophthalmology. 2008;115:520–524
- . Molecular mimicry: uveitis induced in macaca fascicularis by microbial protein having sequence homology with retinal S-antigen. Jpn J Ophthalmol. 1992;36(1):108–116
- Molecular mimicry between uveitopathogenic site of retinal S-antigen and Escherichia coli protein: induction of experimental autoimmune uveitis and lymphocyte cross-reaction. Cell Immunol. 1989;122(1):262–273
- Autoantibodies in haemolytic uraemic syndrome (HUS). Thromb Haemost. 2009;101(2):227–232
- Defective complement control of factor H (y402h) and fhl-1 in age-related macular degeneration. Mol Immunol. 2007;44(13):3398–3406
- New approaches to the treatment of dense deposit disease. J Am Soc Nephrol. 2007;18(9):2447–2456
- Deletion of cfhr3 and cfhr1 genes in age-related macular degeneration. Hum Mol Genet. 2008;17(7):971–977
- Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet. 2007;16(16):1986–1992
- Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration. Invest Ophthalmol Vis Sci. 2007;48(9):4277–4283
- The cellular component in the parietal infiltrate of inflammatory abdominal aortic aneurysms (IAAA). Eur J Vasc Surg. 1991;5(1):65–70
- Systematic review and meta-analysis of the association between complement factor H y402h polymorphisms and age-related macular degeneration. Hum Mol Genet. 2006;15(18):2784–2790
- . A structure for deoxyribose nucleic acid. Nature. 1953;171:737–738
- Association of complement factor H y402h gene polymorphism with different subtypes of exudative age-related macular degeneration. Ophthalmology. 2007;114(4):738–742
- . Autoimmune uveitis induced by molecular mimicry of peptides from rotavirus, bovine casein and retinal S-antigen. Eur J Immunol. 2003;33(9):2577–2587
- Complement factor H polymorphisms, renal phenotypes and age-related macular degeneration: The Blue Mountains Eye Study. Genes Immun. 2008;9(3):231–239
- . Para-inflammation in the ageing retina. Prog Retina Eye Res. 2009;28(5):348–368
- . Current treatment of age-related macular degeneration. Optom Vis Sci. 2007;84(7):559–572
- 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(1):149–153
- Deletion of complement factor H–related genes cfhr1 and cfhr3 is associated with atypical hemolytic uremic syndrome. PLoS Genet. 2007;3(3):e41
- Complement and diseases: defective alternative pathway control results in kidney and eye diseases. Mol Immunol. 2006;43(1–2):97–106
- The role of defective complement control in hemolytic uremic syndrome. Semin Thromb Hemost. 2006;32(2):146–154
- . Complement dysfunction in hemolytic uremic syndrome. Curr Opin Rheumatol. 2006;18(5):548–555
- Complement factor H and hemolytic uremic syndrome. Int Immunopharmacol. 2001;1(3):461–468
Supported in part by the Elizabeth C. King Trust, in collaboration with the Wills Eye Institute, Philadelphia, PA. Gregory Hageman, PhD, Helga Magargal, MD, Larry Magargal, MD, David Pao, MD, and Drs Carol and Jerry Shields provided helpful discussions. Drs Carol and Jerry Shields provided clinical photographs. The Foundation also acknowledges the support of the residents of Pennswood Village and Twining Village who help to support eye research. Christine Skerka and Paul Barlow provided assistance with some aspects of the text and figures related to Factor H. None of the authors have a commercial interest in any of the pharmaceuticals mentioned in the text or figures.
PII: S0039-6257(09)00300-2
doi: 10.1016/j.survophthal.2009.11.001
© 2010 Elsevier Inc. All rights reserved.
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Survey of Ophthalmology
Volume 55, Issue 3
, Pages 227-246
, May 2010
