Molecular genetics of AMD and current animal models

Angiogenesis

Volumn 10, Issue 2, 2007, Pages 119-132

  Edwards, Albert O ^a   Malek, Goldis ^b  

^a MAYO CLINIC   (United States)

^b DUKE UNIVERSITY EYE CENTER   (United States)

Author keywords

Animal model; Eye; Gene; Genetic association; Macular degeneration; Retina; SNP

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; APOLIPOPROTEIN E; BIOLOGICAL MARKER;

ARTICLE; CHROMOSOME 10Q; GENE LINKAGE DISEQUILIBRIUM; GENOMICS; HUMAN; MOLECULAR GENETICS; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULA DEGENERATION; RISK;

AGING; ANIMALS; APOLIPOPROTEINS E; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; COMPLEMENT FACTOR B; DISEASE MODELS, ANIMAL; HUMANS; LINKAGE DISEQUILIBRIUM; MACULAR DEGENERATION; MICE; RATS; VARIATION (GENETICS);

ANIMALIA;

EID: 33947315191     PISSN: 09696970     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10456-007-9064-2     Document Type: Article

References (113)

1. Anderson DH, Mullins RF, Hageman GS, Johnson LV (2002) A role for local inflammation in the formation of drusen in the aging eye. Am J Ophthalmol 134:411-431
2. Johnson LV, Anderson DH (2004) Age-related macular degeneration and the extracellular matrix. N Engl J Med 351:320-322
3. Hageman GS, Luthert PJ, Victor Chong NH, Johnson LV, Anderson DH, Mullins RF (2001) 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
4. Crabb JW, Miyagi M, Gu X et al (2002) Drusen proteome analysis: an approach to the etiology of age-related macular degeneration. Proc Natl Acad Sci USA 99:14682-14687
5. Curcio CA, Medeiros NE, Millican CL (1998) The alabama age-related macular degeneration grading system for donor eyes. Invest Ophthalmol Vis Sci 39:1085-1096
6. Klein R, Davis MD, Magli YL, Segal P, Klein BE, Hubbard L (1991) The Wisconsin age-related maculopathy grading system. Ophthalmology 98:1128-1134
7. Bird AC, Bressler NM, Bressler SB et al (1995) 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
8. Olsen TW, Feng X (2004) The Minnesota Grading System of eye bank eyes for age-related macular degeneration. Invest Ophthalmol Vis Sci 45:4484-4490
9. Ferris FL, Davis MD, Clemons TE et al (2005) A simplified severity scale for age-related macular degeneration: AREDS Report No. 18. Arch Ophthalmol 123:1570-1574
10. Davis MD, Gangnon RE, Lee LY et al (2005) The Age-Related Eye Disease Study severity scale for age-related macular degeneration: AREDS Report No. 17. Arch Ophthalmol 123:1484-1498
11. Klein ML, Schultz DW, Edwards A et al (1998) Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 116:1082-1088
12. Schultz DW, Klein ML, Humpert AJ et al (2003) Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Hum Mol Genet 12:3315-3323
13. Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES (2001) High-resolution haplotype structure in the human genome. Nat Genet 29:229-232
14. Reich DE, Cargill M, Bolk S et al (2001) Linkage disequilibrium in the human genome. Nature 411:199-204
15. Klein RJ, Zeiss C, Chew EY et al (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385-389
16. 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
17. Haines JL, Hauser MA, Schmidt S et al (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419-421
18. 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 (20):7053-7054
19. Rodriguez de Cordoba S, Esparza-Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M, Sanchez-Corral P (2004) The human complement factor H: functional roles, genetic variations and disease associations. Mol Immunol 41:355-367
20. Maller J, George S, Purcell S et al (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet 38:1055-1059
21. Li M, Atmaca-Sonmez P, Othman M et al (2006) CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 38:1049-1054
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
23. 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
24. 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
25. Seddon JM, Santangelo SL, Book K, Chong S, Cote J (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet 73:780-790
26. Schick JH, Iyengar SK, Klein BE et al (2003) A whole-genome screen of a quantitative trait of age-related maculopathy in sibships from the Beaver Dam Eye Study. Am J Hum Genet 72:1412-1424
27. 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
28. Weeks DE, Conley YP, Mah TS et al. (2000) A full genome scan for age-related maculopathy. Hum Mol Genet 9:1329-1349
29. 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
30. Rivera A, Fisher SA, Fritsche LG et al (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
31. Conley YP, Jakobsdottir J, Mah T et al (2006) CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet 15:3206-3218
32. 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
33. Yang Z, Camp NJ, Sun H et al (2006) A variant of the HTRA1 Gene increases susceptibility to age-related macular degeneration. Science 314(5801):992-993
34. Dewan A, Liu M, Hartman S et al (2006) HTRA1 Promoter polymorphism in Wet Age-Related Macular Degeneration. Science 314(5801):989-992
35. 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
36. Zareparsi S, Branham KE, Li M et al (2005) 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
37. Baird PN, Richardson AJ, Robman LD et al. (2006) Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD). Hum Mutat 27:337-342
38. Souied EH, Benlian P, Amouyel P et al (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
39. Klaver CC, Kliffen M, van Duijn CM et al (1998) Genetic association of apolipoprotein E with age-related macular degeneration [published erratum appears in Am J Hum Genet 1998 Oct;63(4):1252]. Am J Hum Genet 63:200-206
40. 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
41. Zareparsi S, Reddick AC, Branham KE et al (2004) Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center. Invest Ophthalmol Vis Sci 45:1306-1310
42. Schmidt S, Klaver C, Saunders A et al (2002) A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmic Genet 23:209-223
43. 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
44. Wong TY, Shankar A, Klein R et al (2006) Apolipoprotein E gene and early age-related maculopathy: the Atherosclerosis Risk in Communities Study. Ophthalmology 113:255-259
45. Schmidt S, Haines JL, Postel EA et al (2005) Joint effects of smoking history and APOE genotypes in age-related macular degeneration. Mol Vis 11:941-949
46. Schultz DW, Klein ML, Humpert A et al (2003) Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration. Arch Ophthalmol 121:679-683
47. Bernstein PS, Leppert M, Singh N et al (2002) Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest Ophthalmol Vis Sci 43:466-473
48. 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
49. Ayyagari R, Zhang K, Hutchinson A et al (2001) Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genet 22:233-239
50. Shastry BS, Trese MT (1999) Evaluation of the peripherin/RDS gene as a candidate gene in families with age-related macular degeneration. Ophthalmologica 213:165-170
51. Narendran N, Guymer RH, Cain M, Baird PN (2005) Analysis of the EFEMP1 gene in individuals and families with early onset drusen. Eye 19:11-15
52. Stone EM, Braun TA, Russell SR et al. (2004) Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med 351:346-353
53. Allikmets R, Seddon JM, Bernstein PS et al (1999) Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet 104:449-453
54. Radu RA, Mata NL, Bagla A, Travis GH (2004) Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration. Proc Natl Acad Sci USA 101:5928-5933
55. Mata NL, Tzekov RT, Liu X, Weng J, Birch DG, Travis GH (2001) Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: implications for involvement of ABCR in age-related macular degeneration. Invest Ophthalmol Vis Sci 42:1685-1690
56. Mata NL, Weng J, Travis GH (2000) Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc Natl Acad Sci USA 97:7154-7159
57. Haines JL, Schnetz-Boutaud N, Schmidt S et al (2006) Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci 47:329-335
58. Churchill AJ, Carter JG, Lovell HC et al (2006) VEGF polymorphisms are associated with neovascular age-related macular degeneration. Hum Mol Genet 15:2955-2961
59. Conley YP, Thalamuthu A, Jakobsdottir J et al (2005) 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
60. Hamdi HK, Reznik J, Castellon R et al (2002) Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration. Biochem Biophys Res Commun 295:668-672
61. Zareparsi S, Buraczynska M, Branham KE et al (2005) Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet 14:1449-1455
62. Tuo J, Smith BC, Bojanowski CM et al (2004) The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. Faseb J 18:1297-1299
63. Chan CC, Tuo J, Bojanowski CM, Csaky KG, Green WR (2005) Detection of CX3CR1 single nucleotide polymorphism and expression on archived eyes with age-related macular degeneration. Histol Histopathol 20:857-863
64. Tuo J, Ning B, Bojanowski CM et al (2006) Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. Proc Natl Acad Sci USA 103:9256-9261
65. Goverdhan SV, Howell MW, Mullins RF et al (2005) Association of HLA class I and class II polymorphisms with age-related macular degeneration. Invest Ophthalmol Vis Sci 46:1726-1734
66. 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
67. Fiotti N, Pedio M, Battaglia Parodi M et al (2005) MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration. Genet Med 7:272-277
68. Esfandiary H, Chakravarthy U, Patterson C, Young I, Hughes AE (2005) Association study of detoxification genes in age related macular degeneration. Br J Ophthalmol 89:470-474
69. Despriet DD, Klaver CC, Witteman JC et al (2006) Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. Jama 296:301-309
70. Schaumberg DA, Christen WG, Kozlowski P, Miller DT, Ridker PM, Zee RY (2006) A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration. Invest Ophthalmol Vis Sci 47:2336-2340
71. Kardys I, Klaver CC, Despriet DD et al (2006) A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study. J Am Coll Cardiol 47:1568-1575
72. Hope GM, Dawson WW, Engel HM, Ulshafer RJ, Kessler MJ, Sherwood MB (1992) A primate model for age related macular drusen. Br J Ophthalmol 76:11-16
73. Umeda S, Ayyagari R, Allikmets R et al (2005) Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci. Invest Ophthalmol Vis Sci 46:683-691
74. Kliffen M, Lutgens E, Daemen MJ, de Muinck ED, Mooy CM, de Jong PT (2000) The APO(*)E3-Leiden mouse as an animal model for basal laminar deposit. Br J Ophthalmol 84:1415-1419
75. Dithmar S, Curcio CA, Le NA, Brown S, Grossniklaus HE (2000) Ultrastructural changes in Bruch's membrane of apolipoprotein E-deficient mice. Invest Ophthalmol Vis Sci 41:2035-2042
76. Dithmar S, Sharara NA, Curcio CA et al (2001) Murine high-fat diet and laser photochemical model of basal deposits in Bruch membrane. Arch Ophthalmol 119:1643-1649
77. Rudolf M, Winkler B, Aherrahou Z, Doehring LC, Kaczmarek P, Schmidt-Erfurth U (2005) Increased expression of vascular endothelial growth factor associated with accumulation of lipids in Bruch's membrane of LDL receptor knockout mice. Br J Ophthalmol 89:1627-1630
78. Gottsch JD, Bynoe LA, Harlan JB, Rencs EV, Green WR (1993) Light-induced deposits in Bruch's membrane of protoporphyric mice. Arch Ophthalmol 111:126-129
79. Cousins SW, Marin-Castano ME, Espinosa-Heidmann DG, Alexandridou A, Striker L, Elliot S (2003) Female gender, estrogen loss, and Sub-RPE deposit formation in aged mice. Invest Ophthalmol Vis Sci 44:1221-1229
80. Espinosa-Heidmann DG, Sall J, Hernandez EP, Cousins SW (2004) Basal laminar deposit formation in APO B100 transgenic mice: complex interactions between dietary fat, blue light, and vitamin E. Invest Ophthalmol Vis Sci 45:260-266
81. 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
82. Majji AB, Cao J, Chang KY et al (2000) Age-related retinal pigment epithelium and Bruch's membrane degeneration in senescence-accelerated mouse. Invest Ophthalmol Vis Sci 41:3936-3942
83. Ida H, Ishibashi K, Reiser K, Hjelmeland LM, Handa JT (2004) Ultrastructural aging of the RPE-Bruch's membrane-choriocapillaris complex in the D-galactose-treated mouse. Invest Ophthalmol Vis Sci 45:2348-2354
84. Tian J, Ishibashi K, Ishibashi K et al (2005) Advanced glycation endproduct-induced aging of the retinal pigment epithelium and choroid: a comprehensive transcriptional response. Proc Natl Acad Sci USA 102:11846-11851
85. Karan G, Lillo C, Yang Z et al (2005) Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration. Proc Natl Acad Sci USA 102:4164-4169
86. Hahn P, Dentchev T, Qian Y, Rouault T, Harris ZL, Dunaief JL (2004) Immunolocalization and regulation of iron handling proteins ferritin and ferroportin in the retina. Mol Vis 10:598-607
87. Rakoczy PE, Zhang D, Robertson T et al (2002) Progressive age-related changes similar to age-related macular degeneration in a transgenic mouse model. Am J Pathol 161:1515-1524
88. Tanaka N, Ikawa M, Mata NL, Verma IM (2006) Choroidal neovascularization in transgenic mice expressing prokineticin 1: an animal model for age-related macular degeneration. Mol Ther 13:609-616
89. Miller H, Miller B, Ryan SJ (1986) The role of retinal pigment epithelium in the involution of subretinal neovascularization. Invest Ophthalmol Vis Sci 27:1644-1652
90. Dobi ET, Puliafito CA, Destro M (1989) A new model of experimental choroidal neovascularization in the rat. Arch Ophthalmol 107:264-269
91. Frank RN, Das A, Weber ML (1989) A model of subretinal neovascularization in the pigmented rat. Curr Eye Res 8:239-247
92. Kiilgaard JF, Andersen MV, Wiencke AK et al (2005) A new animal model of choroidal neovascularization. Acta Ophthalmol Scand 83:697-704
93. Wang F, Rendahl KG, Manning WC, Quiroz D, Coyne M, Miller SS (2003) AAV-mediated expression of vascular endothelial growth factor induces choroidal neovascularization in rat. Invest Ophthalmol Vis Sci 44:781-790
94. Spilsbury K, Garrett KL, Shen WY, Constable IJ, Rakoczy PE (2000) Overexpression of vascular endothelial growth factor (VEGF) in the retinal pigment epithelium leads to the development of choroidal neovascularization. Am J Pathol 157:135-144
95. Schwesinger C, Yee C, Rohan RM et al (2001) Intrachoroidal neovascularization in transgenic mice overexpressing vascular endothelial growth factor in the retinal pigment epithelium. Am J Pathol 158:1161-1172
96. Heckenlively JR, Hawes NL, Friedlander M et al (2003) Mouse model of subretinal neovascularization with choroidal anastomosis. Retina 23:518-522
97. Ambati J, Anand A, Fernandez S et al (2003) An animal model of age-related macular degeneration in senescent Ccl-2- or Ccr-2-deficient mice. Nat Med 9:1390-1397
98. Malek G, Johnson LV, Mace BE et al (2005) Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration. Proc Natl Acad Sci USA 102:11900-11905
99. Imamura Y, Noda S, Hashizume K et al (2006) Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: a model of age-related macular degeneration. Proc Natl Acad Sci USA 103:11282-11287
100. Fauser S, Luberichs J, Schuttauf F (2002) Genetic animal models for retinal degeneration. Surv Ophthalmol 47:357-367
101. Curcio CA, Owsley C, Jackson GR (2000) Spare the rods, save the cones in aging and age-related maculopathy. Invest Ophthalmol Vis Sci 41:2015-2018
102. Snow KK, Seddon JM (1999) Do age-related macular degeneration and cardiovascular disease share common antecedents?. Ophthalmic Epidemiol 6:125-143
103. McGwin G Jr, Owsley C, Curcio CA, Crain RJ (2003) The association between statin use and age related maculopathy. Br J Ophthalmol 87:1121-1125
104. Curcio CA, Millican CL (1999) Basal linear deposit and large drusen are specific for early age-related maculopathy. Arch Ophthalmol 117:329-339
105. Heriot WJ, Henkind P, Bellhorn RW, Burns MS (1984) Choroidal neovascularization can digest Bruch's membrane. A prior break is not essential. Ophthalmology 91:1603-1608
106. Zhang K, Kniazeva M, Han M et al (2001) A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet 27:89-93
107. Edwards AO, Donoso LA, Ritter R 3rd (2001) A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. Invest Ophthalmol Vis Sci 42:2652-2663
108. Vasireddy V, Jablonski MM, Mandal MN et al (2006) Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Invest Ophthalmol Vis Sci 47:4558-4568
109. Yannuzzi LA, Negrao S, Iida T et al (2001) Retinal angiomatous proliferation in age-related macular degeneration. Retina 21:416-434
110. Delcourt C, Cristol JP, Leger CL, Descomps B, Papoz L (1999) Associations of antioxidant enzymes with cataract and age-related macular degeneration. The POLA Study. Pathologies Oculaires Liees a l'Age. Ophthalmology 106:215-222
111. Clark SJ, Higman VA, Mulloy B et al (2006) 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 281:24713-24720
112. Johnson PT, Betts KE, Radeke MJ, Hageman GS, Anderson DH, Johnson LV (2006) 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 103:17456-17461
113. 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