Genetic control of complement activation in humans and age related macular degeneration

Advances in Experimental Medicine and Biology

Volumn 703, Issue , 2010, Pages 49-62

  Hecker, Laura A ^a   Edwards, Albert O ^b  

^a MAYO CLINIC   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; C REACTIVE PROTEIN; COMPLEMENT; COMPLEMENT COMPONENT C2; COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C3A; COMPLEMENT COMPONENT C3D; COMPLEMENT COMPONENT C5A; COMPLEMENT FACTOR D; COMPLEMENT FACTOR H; COMPLEMENT FACTOR H LIKE 1; COMPLEMENT FACTOR H RELATED 1; COMPLEMENT FACTOR H RELATED 3; COMPLEMENT FACTOR I; UNCLASSIFIED DRUG;

ABCA4 GENE; AMINO ACID SUBSTITUTION; APOE2 GENE; APOE4 GENE; ARMS2 GENE; ARTICLE; BIOACCUMULATION; CFH GENE; CHROMOSOME 10Q; COMPLEMENT ACTIVATION; COMPLEMENT ALTERNATIVE PATHWAY; DRUSEN; FIBULIN 5 GENE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC REGULATION; GENETIC RISK; GENETIC VARIABILITY; GEOGRAPHIC ATROPHY; HAPLOTYPE; HTRA1 GENE; HUMAN; LOC387715 GENE; MARKER GENE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN PROTEIN INTERACTION; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULOPATHY; RETINITIS; SINGLE NUCLEOTIDE POLYMORPHISM; SUBRETINAL NEOVASCULARIZATION; VEGF GENE; VISUAL IMPAIRMENT; BIOLOGICAL MODEL; GENETICS; IMMUNOGENETICS; IMMUNOLOGY; RETINA MACULA DEGENERATION; REVIEW; RISK FACTOR;

COMPLEMENT ACTIVATION; HAPLOTYPES; HUMANS; IMMUNOGENETIC PHENOMENA; MACULAR DEGENERATION; MODELS, IMMUNOLOGICAL; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 79952116617     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-5635-4_4     Document Type: Article

References (55)

1. Allikmets R (2000) Further evidence for an association of Abcr alleles with age-related macular degeneration. The International Abcr Screening Consortium. Am J Hum Genet 67:487-491 (Pubitemid 30616750)
2. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M (1997) Mutation of the stargardt disease gene (Abcr) in age-related macular degeneration. Science 277:1805-1807 (Pubitemid 27449189)
3. Baird PN, Guida E, Chu DT, Vu HT, Guymer RH (2004) The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 45:1311-1315 (Pubitemid 38859305)
4. Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, Den Hollander AI (2008) Basal laminar drusen caused by compound heterozygous variants in the Cfh gene. Am J Hum Genet 82:516-523 (Pubitemid 351726101)
5. Churchill AJ, Carter JG, Lovell HC, Ramsden C, Turner SJ, Yeung A, Escardo J, Atan D (2006) Vegf polymorphisms are associated with neovascular age-related macular degeneration. Hum Mol Genet 15:2955-2961 (Pubitemid 44446814)
6. Clemons TE, Milton RC, Klein R, Seddon JM, Ferris FL 3rd (2005) Risk factors for the incidence of advanced age-related macular degeneration in the age-related eye disease study (Areds) Areds report No. 19. Ophthalmology 112:533-539 (Pubitemid 41108849)
7. Crabb JW, Miyagi M, Gu X, Shadrach K, West KA, Sakaguchi H, Kamei M, Hasan A, Yan L, Rayborn ME, Salomon RG, Hollyfield JG (2002) Drusen proteome analysis: an approach to the etiology of age-related macular degeneration. Proc Natl Acad Sci USA 99:14682-14687 (Pubitemid 35334544)
8. Despriet DD, Klaver CC, Witteman JC, Bergen AA, Kardys I, De Maat MP, Boekhoorn SS, Vingerling JR, Hofman A, Oostra BA, Uitterlinden AG, Stijnen T, Van Duijn CM, De Jong PT (2006) Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA 296:301-309 (Pubitemid 44079314)
9. Edwards AO, Malek G (2007) Molecular genetics of Amd and current animal models. Angiogenesis 10:119-132 (Pubitemid 46440627)
10. Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308:421-424 (Pubitemid 40530082)
11. Esparza-Gordillo J, Soria JM, Buil A, Almasy L, Blangero J, Fontcuberta J, Rodriguez De Cordoba S (2004) Genetic and environmental factors influencing the human factor H plasma levels. Immunogenetics 56:77-82 (Pubitemid 38757035)
12. Espinosa-Heidmann DG, Suner IJ, Catanuto P, Hernandez EP, Marin-Castano ME, Cousins SW (2006) Cigarette smoke-related oxidants and the development of sub-Rpe deposits in an experimental animal model of dry Amd. Invest Ophthalmol Vis Sci 47:729-737 (Pubitemid 46768404)
13. Estaller C, Schwaeble W, Dierich M, Weiss EH (1991) Human complement factor H: two factor H proteins are derived from alternatively spliced transcripts. Eur J Immunol 21:799-802
14. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM (2009) Variation near complement factor I is associated with risk of advanced Amd. Eur J Hum Genet 17:100-104
15. Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH (2008) Agerelated macular degeneration is associated with an unstable Arms2 (Loc387715) Mrna. Nat Genet 40:892-896 (Pubitemid 351913654)
16. Fujihara M, Bartels E, Nielsen LB, Handa JT (2009) A human Apob100 transgenic mouse expresses human Apob100 in the Rpe and develops features of early Amd. Exp Eye Res 88:1115-1123
17. Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT, Hageman GS, Dean M, Allikmets R (2006) Variation in factor B (Bf) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 38:458-462
18. Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R (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(20):7227-7232 (Pubitemid 40696361)
19. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419-421 (Pubitemid 40530081)
20. Haines JL, Schnetz-Boutaud N, Schmidt S, Scott WK, Agarwal A, Postel EA, Olson L, Kenealy SJ, Hauser M, Gilbert JR, Pericak-Vance MA (2006) Functional candidate genes in age-related macular degeneration: significant association with Vegf, Vldlr, and Lrp6. Invest Ophthalmol Vis Sci 47:329-335 (Pubitemid 46780832)
21. Hecker LA, Edwards AO, Ryu E, Tosakulwong N, Baratz KH, Brown WL, Issa PC, Scholl HP, Pollok-Kopp B, Schmid-Kubista KE, Bailey KR, Oppermann M (2010) Genetic control of the alternative pathway of complement in humans and age-related macular degeneration. Hum Mol Genet 19(1):209-215
22. 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 (Pubitemid 44470363)
23. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet 77:389-407 (Pubitemid 41192646)
24. Johnson LV, Leitner WP, Staples MK, Anderson DH (2001) Complement activation and inflammatory processes in drusen formation and age related macular degeneration. Exp Eye Res 73:887-896 (Pubitemid 34112114)
25. Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR, Swaroop A (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 (Pubitemid 350099389)
26. Klein R, Klein BE, Linton KL (1992) Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology 99:933-943
27. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, Sangiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385-389 (Pubitemid 40530070)
28. Kortvely E, Hauck SM, Duetsch G, Gloeckner CJ, Kremmer E, Alge-Priglinger CS, Deeg C, Ueffing M (2010) Arms2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. Invest Ophthalmol Vis Sci 51(1):79-88
29. Li M, Atmaca-Sonmez P, Othman M, Branham KE, Khanna R, Wade MS, Li Y, Liang L, Zareparsi S, Swaroop A, Abecasis GR (2006) Cfh haplotypes without the Y402h coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 38:1049-1054 (Pubitemid 44325931)
30. 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 (Pubitemid 47482689)
31. Montes T, Tortajada A, Morgan BP, Rodriguez De Cordoba S, Harris CL (2009) Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B. Proc Natl Acad Sci USA 106:4366-4371
32. Oppermann M, Baumgarten H, Brandt E, Gottsleben W, Kurts C, Gotze O (1990) Quantitation of components of the alternative pathway of complement (Apc) by enzyme-linked immunosorbent assays. J Immunol Meth 133:181-190 (Pubitemid 20338894)
33. Oppermann M, Kurts C, Zierz R, Quentin E, Weber MH, Gotze O (1991a) Elevated plasma levels of the immunosuppressive complement fragment Ba in renal failure. Kidney Int 40:939-947
34. Oppermann M, Schulze M, Gotze O (1991b) A sensitive enzyme immunoassay for the quantitation of human C5a/C5a(Desarg) anaphylatoxin using a monoclonal antibody with specificity for a neoepitope. Complement Inflamm 8:13-24
35. Ormsby RJ, Ranganathan S, Tong JC, Griggs KM, Dimasi DP, Hewitt AW, Burdon KP, Craig JE, Hoh J, Gordon DL (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
36. Pangburn MK, Schreiber RD, Muller-Eberhard HJ (1981) Formation of the initial C3 convertase of the alternative complement pathway. Acquisition of C3b-like activities by spontaneous hydrolysis of the putative thioester in native C3. J Exp Med 154:856-867 (Pubitemid 11060794)
37. Pomeroy C, Mitchell J, Eckert E, Raymond N, Crosby R, Dalmasso AP (1997) Effect of body weight and caloric restriction on serum complement proteins, including factor D/Adipsin: studies in anorexia nervosa and obesity. Clin Exp Immunol 108:507-515 (Pubitemid 27242443)
38. Prosser BE, Johnson S, Roversi P, Herbert AP, Blaum BS, Tyrrell J, Jowitt TA, Clark SJ, Tarelli E, Uhrin D, Barlow PN, Sim RB, Day AJ, Lea SM (2007) Structural basis for complement factor H linked age-related macular degeneration. J Exp Med 204:2277-2283 (Pubitemid 47529315)
39. Reynolds R, Hartnett ME, Atkinson JP, Giclas PC, Rosner B, Seddon JM (2009) Plasma complement components and activation fragments are associated with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci 50(12):5818-5827
40. 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 (Pubitemid 41631297)
41. Robbins RA, Nelson KJ, Gossman GL, Koyama S, Rennard SI (1991) Complement activation by cigarette smoke. Am J Physiol 260:L254-L259
42. Schmidt S, Klaver C, Saunders A, Postel E, De La Paz M, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, De Jong PT, Van Duijn C, Haines J, Pericak-Vance M, Gorin M (2002) A pooled case-control study of the apolipoprotein E (Apoe) gene in age-related maculopathy. Ophthalmic Genet 23:209-223 (Pubitemid 36238065)
43. Scholl HP, Charbel Issa P, Walier M, Janzer S, Pollok-Kopp B, Borncke F, Fritsche LG, Chong NV, Fimmers R, Wienker T, Holz FG, Weber BH, Oppermann M (2008) Systemic complement activation in age-related macular degeneration. PLoS One 3:e2593
44. 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 (Pubitemid 33133408)
45. Sivaprasad S, Adewoyin T, Bailey TA, Dandekar SS, Jenkins S, Webster AR, Chong NV (2007) Estimation of systemic complement C3 activity in age-related macular degeneration. Arch Ophthalmol 125:515-519 (Pubitemid 46596724)
46. Souied EH, Benlian P, Amouyel P, Feingold J, Lagarde JP, Munnich A, Kaplan J, Coscas G, Soubrane G (1998) The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol 125:353-359 (Pubitemid 28124364)
47. Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL (2007) Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet 16:1986-1992 (Pubitemid 47354881)
48. Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC (2004) Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med 351:346-353 (Pubitemid 38944403)
49. Tortajada A, Montes T, Martinez-Barricarte R, Morgan BP, Harris CL, De Cordoba SR (2009) The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity. Hum Mol Genet 18:3452-3461
50. Walport MJ (2001) Complement. First of two parts. N Engl J Med 344:1058-1066
51. Wang G, Spencer KL, Court BL, Olson LM, Scott WK, Haines JL, Pericak-Vance MA (2009) Localization of age-related macular degeneration- associated Arms2 in cytosol, not mitochondria. Invest Ophthalmol Vis Sci 50:3084-3090
52. Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, Chen H, Zhao Y, Pearson E, Li X, Chien J, Dewan A, Harmon J, Bernstein PS, Shridhar V, Zabriskie NA, Hoh J, Howes K, Zhang K (2006) A variant of the Htra1 gene increases susceptibility to age-related macular degeneration. Science 314:992-993 (Pubitemid 44749944)
53. Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT (2007) Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 357:553-561 (Pubitemid 47236280)
54. Zareparsi S, Reddick AC, Branham KE, Moore KB, Jessup L, Thoms S, Smith-Wheelock M, Yashar BM, Swaroop A (2004) Association of apolipoprotein E alleles with susceptibility toage-related macular degeneration in a large cohort from a single center. Invest Ophthalmol Vis Sci 45:1306-1310 (Pubitemid 38859304)
55. Zhou J, Jang YP, Kim SR, Sparrow JR (2006) Complement activation by photooxidation products of A2e, a lipofuscin constituent of the retinal pigment epithelium. Proc Natl Acad Sci USA 103:16182-16187 (Pubitemid 44715171)