Role of genetic factors and inflammation in age-related macular degeneration

Retina

Volumn 27, Issue 3, 2007, Pages 269-275

  Moshfeghi, Darius M ^a,b   Blumenkranz, Mark S ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NONE   (United States)

Author keywords

10q26; 1q32; 6p21; Age related macular degeneration; Candidate gene; Complement factor H; LOC387715; Y402H

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT FACTOR H; COMPLEMENT MEMBRANE ATTACK COMPLEX; HF1 PROTEIN; LOC387715 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

CHROMOSOME 10Q; CHROMOSOME 1Q; CHROMOSOME 6P; DISEASE COURSE; DISEASE PREDISPOSITION; EYE INFLAMMATION; FAMILY HISTORY; GENETIC IDENTIFICATION; HEREDITY; HUMAN; RETINA MACULA AGE RELATED DEGENERATION; REVIEW; RISK; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 6; COMPLEMENT FACTOR H; HUMANS; INFLAMMATION; MACULAR DEGENERATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 33947128185     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/IAE.0b013e31802e3e9b     Document Type: Review

References (78)

1. Congdon N, O'Colmain B, Klaver CC, et al. The Eye Diseases Prevalence Research Group. Causes and prevalence of visual impairment among adults in the United States. Arch Ophthalmol 2004;122:477-485.
2. Friedman DS, O'Colmain BJ, Munoz B, et al. The Eye Diseases Prevalence Research Group. Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol 2004;122:564-572.
3. Klein R, Peto T, Bird A, Vannewkirk MR. The epidemiology of age-related macular degeneration. Am J Ophthalmol 2004;137:486-495.
4. Blumenkranz MS, Russell SR, Robey MG, et al. Risk factors in age-related maculopathy complicated by choroidal neovascularization. Ophthalmology 1986;93:552-558.
5. The Eye Disease Case-Control Study Group. Risk factors for neovascular age-related macular degeneration. Arch Ophthalmol 1992;110:1701-1708.
6. Age-Related Eye Disease Study Research Group. A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss. AREDS report no. 8. Arch Ophthalmol 2001;119:1417-1436.
7. Seddon JM, Cote J, Rosner B. Progression of age-related macular degeneration: association with dietary fat, transunsaturated fat, nuts, and fish intake. Arch Ophthalmol 2003;121:1728-1737. Erratum in: Arch Ophthalmol 2004;122:426
8. Chua B, Flood V, Rochtchina E, et al. Dietary fatty acids and the 5-year incidence of age-related maculopathy. Arch Ophthalmol 2006;124:981-986.
9. Bressler NM, Bressler SB, Congdon NG, et al. Potential public health impact of Age-Related Eye Disease Study results: AREDS report no. 11. Arch Ophthalmol 2003;12:1621-1624.
10. Treatment of age-related macular degeneration with photodynamic therapy (TAP) Study Group. Photodynamic therapy of subfoveal choroidal neovascularization in age-related macular degeneration with verteporfin: one-year results of 2 randomized clinical trials - TAP report. Arch Ophthalmol 1999;117:1329-1345.
11. Gragoudas ES, Adamis AP, Cunningham ET, et al. VEGF Inhibition Study in Ocular Neovascularization Clinical Trial Group. Pegaptanib for neovascular age-related macular degeneration. N Engl J Med 2004;351:2805-2816.
12. Rosenfeld PJ, Moshfeghi AA, Puliafito CA. Optical coherence tomography findings after an intravitreal injection of bevacizumab (Avastin) for neovascular age-related macular degeneration. Ophthalmic Surg Lasers Imaging 2005;36:331-335.
13. Avery RL, Pieramici DJ, Rabena MD, et al. Intravitreal bevacizumab (Avastin) for neovascular age-related macular degeneration. Ophthalmology 2006;113:363-372.
14. Kaplan J, Gerber S, Larget-Piet D, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 1993;5:308-311. Erratum in: Nat Genet 1994;6:214.
15. Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805-1807.
16. Zhang K, Kniazeva M, Hutchinson A, et al. The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration. Genomics 1999;60:234-237.
17. Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet 2000;67:487-491.
18. Souied EH, Ducroq D, Rozet JM, et al. ABCR gene analysis in familial exudative age-related macular degeneration. Invest Ophthalmol Vis Sci 2000;41:244-247.
19. Klaver CC, Kliffen M, van Duijn CM, et al. Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet 1998;63:200-2006. Erratum in: Am J Hum Genet 1998;63:1252.
20. Souied EH, Benlian P, Amouyel P, et al. The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol 1998;125:353-359.
21. Simonelli F, Margaglione M, Testa F, et al. Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population. Ophthalmic Res 2001;33:325-328.
22. Schmidt S, Klaver C, Saunders A, et al. A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmic Genet 2002;23:209-223.
23. Schultz DW, Klein ML, Humpert AJ, et al. 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 2003;12:3315-3323.
24. Hayashi M, Merriam JE, Klaver CC, 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 2004;25:111-119.
25. Stone EM, Braun TA, Russell SR, et al. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med 2004;351:346-353.
26. Bok D. Evidence for an inflammatory process in age-related macular degeneration gains new support. Proc Natl Acad Sci USA 2005;102:7053-7054.
27. Donoso LA, Kim D, Frost A, et al. The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol 2006;51:137-152.
28. Mullins RF, Russell SR, Anderson DH, Hageman GS. 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;14:835-846.
29. Russell SR, Mullins RF, Schneider BL, Hageman GS. Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration. Am J Ophthalmol 2000;129:205-214.
30. Anderson DH, Mullins RF, Hageman GS, Johnson LV. A role for local inflammation in the formation of drusen in the aging eye. Am J Ophthalmol 2002;134:411-431.
31. Johnson LV, Leitner WP, Staples MK, Anderson DH. Complement activation and inflammatory processes in drusen formation and age-related macular degeneration. Exp Eye Res 2001;73:887-896.
32. Crabb JW, Miyagi M, Gu X, et al. Drusen proteome analysis: an approach to the etiology of age-related macular degeneration. Proc Natl Acad Sci USA 2002;99:14682-14687.
33. Hageman GS, Luthert PJ, Victor Chong NH, 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 2001;20:705-732.
34. Kalayoglu MV, Galvan C, Mahdi OS, et al. Serological association between Chlamydia pneumoniae infection and age-related macular degeneration. Arch Ophthalmol 2003;121:478-482.
35. Kalayoglu MV, Bula D, Arroyo J, et al. Identification of Chlamydia pneumoniae within human choroidal neovascular membranes secondary to age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol 2005;243:1080-1090.
36. Robman L, Mahdi O, McCarty C, et al. Exposure to Chlamydia pneumoniae infection and progression of age-related macular degeneration. Am J Epidemiol 2005;161:1013-1019.
37. Miller DM, Espinosa-Heidmann DG, Legra J, et al. The association of prior cytomegalovirus infection with neovascular age-related macular degeneration. Am J Ophthalmol 2004;138:323-328.
38. Colville D, Guymer R, Sinclair RA, Savige J. Visual impairment caused by retinal abnormalities in mesangiocapillary (membranoproliferative) glomerulonephritis type II ("dense deposit disease"). Am J Kidney Dis 2003;42:E2-E5.
39. Mullins RF, Aptsiauri N, Hageman GS. Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis. Eye 2001;15:390-395.
40. Jansen JH, Hogasen K, Grondahl AM. Porcine membranoproliferative glomerulonephritis type II: an autosomal recessive deficiency of factor H. Vet Rec 1995;137:240-244.
41. Jansen JH, Hogasen K, Harboe M, Hovig T. In situ complement activation in porcine membranoproliferative glomerulonephritis type II. Kidney Int 1998;53:331-349.
42. Pickering MC, Cook HT, Warren J, et al. Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. Nat Genet 2002;31:424-428.
43. Watanabe S, Yamaguchi Y, Suzuki T, et al. Inherited factor H dysfunction and complement-associated glomerulonephritis in renal grafts of first and second transplantations. Clin Transplant 2001;15:S45-50.
44. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005;308:385-389.
45. 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.
46. Edwards AO, Ritter R 3rd, Abel KJ, et al. Complement factor H polymorphism and age-related macular degeneration. Science 2005;308:421-424.
47. 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.
48. Despriet DD, Klaver CC, Witteman JC, et al. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA 2006;296:301-309.
49. 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.
50. Kaur I, Hussain A, Hussain N, et al. 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 2006;47:3729-3735.
51. 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.
52. Li M, Atmaca-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.
53. Baird PN, Islam FM, Richardson AJ, et al. Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration. Invest Ophthalmol Vis Sci 2006;47:4194-4198.
54. 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.
55. Magnusson KP, Duan S, Sigurdsson H, et al. CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med 2006;3:e5.
56. 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.
57. Simonelli F, Frisso G, Testa F, et al. Polymorphism p. 402Y>H in the complement factor H protein is a risk factor for age-related macular degeneration in an Italian population. Br J Ophthalmol 2006;90:1142-1145.
58. Lau LI, Chen SJ, Cheng CY, et al. Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients. Invest Ophthalmol Vis Sci 2006;47:3242-3246.
59. Seitsonen S, Lemmela S, Holopainen J, et al. Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population. Mol Vis 2006;12:796-801.
60. Gotoh N, Yamada R, Hiratani H, et al. No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. Hum Genet 2006 May 19; [Epub ahead of print]
61. 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.
62. 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.
63. Grassi MA, Fingert JH, Scheetz TE, et al. Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. Hum Mutat 2006;27:921-925.
64. Schaumberg DA, Christen WG, Kozlowski P, et al. 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 2006;47:2336-2340.
65. Giannakis E, Male DA, Ormsby RJ, et al. Multiple ligand binding sites on domain seven of human complement factor H. Int Immunopharmacol 2001;1:433-443.
66. Zipfel PF, Heinen S, Jozsi M, Skerka C. Complement and diseases: defective alternative pathway control results in kidney and eye diseases. Mol Immunol 2006;43:97-106.
67. Rodriguez de Cordoba S, Esparza-Gordillo J. The human complement factor H: functional roles, genetic variations and disease associations. Mol Immunol 2004;41:355-367.
68. Giannakis E, Jokiranta TS, Male DA, et al. A common site within factor H SCR 7 responsible for binding heparin, Creactive protein and streptococcal M protein. Eur J Immunol 2003;33:962-969.
69. Esparza-Gordillo J, Soria JM, Buil A, et al. Genetic and environmental factors influencing the human factor H plasma levels. Immunogenetics 2004;56:77-82.
70. Khan JC, Thurlby DA, Shahid H, et al. Genetic Factors in AMD Study. Smoking and age-related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation. Br J Ophthalmol 2006;90:75-80.
71. Clemons TE, Milton RC, Klein R, et al. Risk factors for the incidence of advanced age-related macular degeneration in the Age-Related Eye Disease Study (AREDS). AREDS report no. 19. Ophthalmology 2005;112:533-539.
72. Sepp T, Khan JC, Thurlby DA, et al. Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci 2006;47:536-540.
73. Seddon JM, George S, Rosner B, Klein ML. CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered 2006;61:157-165.
74. Hughes AE, Orr N, Esfandiary H, et al. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet 2006;38:1173-1177.
75. Jakobsdottir J, Conley YP, Weeks DE, et al. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet 2005;77:389-407.
76. Rivera A, Fisher SA, Fritsche LG, et al. Hypothetical LOC387715 is a second major susceptibility gene for agerelated macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet 2005;14:3227-3236.
77. 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.
78. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 2006;38:458-462.