Update on the role of genetics in the onset of age-related macular degeneration

Clinical Ophthalmology

Volumn 5, Issue 1, 2011, Pages 1127-1133

  Francis, Peter James ^a   Klein, Michael L ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

AMD; Complex disease; Genes; Susceptibility

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A1; ALPHA TOCOPHEROL; APOLIPOPROTEIN E; ARYLDIALKYLPHOSPHATASE 1; ASCORBIC ACID; BETA CAROTENE; BEVACIZUMAB; COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C2; COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H; FIBULIN 5; PLACEBO; PROTEIN ABCA4; RANIBIZUMAB; TISSUE INHIBITOR OF METALLOPROTEINASE 3; TOLL LIKE RECEPTOR 3; TOLL LIKE RECEPTOR 4; UNCLASSIFIED DRUG; VASCULOTROPIN; VERTEPORFIN; VERY LOW DENSITY LIPOPROTEIN RECEPTOR; ZINC;

ABCA1 GENE; APOE GENE; ARMS2 GENE; C2 GENE; C3 GENE; CETP GENE; CFB GENE; CFH GENE; CFI GENE; COMPLEMENT ALTERNATIVE PATHWAY; GENE; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; LIPC GENE; LIPID METABOLISM; LPL GENE; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; ONSET AGE; PHARMACOGENETICS; PHOTODYNAMIC THERAPY; RANDOMIZED CONTROLLED TRIAL (TOPIC); RETINA MACULA AGE RELATED DEGENERATION; REVIEW; SEQUENCE ANALYSIS; TIMP3 GENE;

EID: 80051710075     PISSN: 11775467     EISSN: 11775483     Source Type: Journal    
DOI: 10.2147/opth.s11627     Document Type: Review

References (97)

1. Bird AC, Bressler NM, Bressler SB, 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. 1995;39(5):367-374.
2. Chakravarthy U, Augood C, Bentham GC, et al. Cigarette smoking and age-related macular degeneration in the EUREYE Study. Ophthalmology. 2007;114(6):1157-1163.
3. Klein ML, Francis PJ. Genetics of age-related macular degeneration. Ophthalmol Clin North Am. 2003;16(4):567-574.
4. Klein R, Klein BE, Linton KL. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology. 1992;99(6):933-943.
5. Friedman DS, O'Colmain BJ, Munoz B, et al. Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol. 2004; 122(4):564-572.
6. 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(10):1417-1436.
7. Complications of Age-Related Macular Degeneration Prevention Trial Study Group. The Complications of Age-Related Macular Degeneration Prevention Trial (CAPT): rationale, design and methodology. Clin Trials. 2004;1(1):91-107.
8. Rosenfeld PJ, Rich RM, Lalwani GA. Ranibizumab. Phase III clinical trial results. Ophthalmol Clin North Am. 2006;19(3):361-372.
9. Thornton J, Edwards R, Mitchell P, Harrison RA, Buchan I, Kelly SP. Smoking and age-related macular degeneration: a review of association. Eye. 2005;19(9):935-944.
10. Evans JR, Fletcher AE, Wormald RP. 28,000 cases of age related macular degeneration causing visual loss in people aged 75 years and above in the United Kingdom may be attributable to smoking. Br J Ophthalmol. 2005;89(5):550-553.
11. Clemons TE, Milton RC, Klein R, Seddon JM, Ferris FL 3rd. 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(4):533-539.
12. Klein R, Deng Y, Klein BE, et al. Cardiovascular disease, its risk factors and treatment, and age-related macular degeneration: Women's Health Initiative Sight Exam ancillary study. Am J Ophthalmol. 2007; 143(3):473-483.
13. Klein R, Klein BE, Knudtson MD, et al. Subclinical atherosclerotic cardiovascular disease and early age-related macular degeneration in a multiracial cohort: the Multiethnic Study of Atherosclerosis. Arch Ophthalmol. 2007;125(4):534-543.
14. Duan Y, Mo J, Klein R, et al. Age-related macular degeneration is associated with incident myocardial infarction among elderly Americans. Ophthalmology. 2007;114(4):732-737.
15. Guymer RH, Chong EW. Modifiable risk factors for age-related macular degeneration. Med J Aust. 2006;184(9):455-458.
16. Klein R, Klein BE, Knudtson MD, et al. Prevalence of age-related macular degeneration in 4 racial/ethnic groups in the multi-ethnic study of atherosclerosis. Ophthalmology. 2006;113(3):373-380.
17. 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(3):157-165.
18. Francis PJ, George S, Schultz DW, et al. The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered. 2007;63(3-4):212-218.
19. Klein ML, Mauldin WM, Stoumbos VD. Heredity and age-related macular degeneration. Observations in monozygotic twins. Arch Ophthalmol. 1994;112(7):932-937.
20. Seddon JM, Ajani UA, Mitchell BD. Familial aggregation of age-related maculopathy. Am J Ophthalmol. 1997;123(2):199-206.
21. Majewski J, Schultz DW, Weleber RG, et al. Age-related macular degeneration-a genome scan in extended families. Am J Hum Genet. 2003;73(3):540-550.
22. Kenealy SJ, Schmidt S, Agarwal A, et al. Linkage analysis for agerelated macular degeneration supports a gene on chromosome 10q26. Mol Vis. 2004;10:57-61.
23. Santangelo SL, Yen CH, Haddad S, Fagerness J, Huang C, Seddon JM. A discordant sib-pair linkage analysis of age-related macular degeneration. Ophthalmic Genet. 2005;26(2):61-67.
24. Fisher SA, Abecasis GR, Yashar BM, et al. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. Aug 1 2005;14(15):2257-2264.
25. Barral S, Francis PJ, Schultz DW, et al. Expanded genome scan in extended families with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006;47(12):5453-5459.
26. Schmidt S, Scott WK, Postel EA, et al. Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. BMC Genet. 2004 Jul 6;5:18.
27. Schultz DW, Weleber RG, Lawrence G, et al. HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective. Ophthalmic Genet. 2005;26(2):101-105.
28. Klein ML, Schultz DW, Edwards A, et al. Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol. 1998;116(8):1082-1088.
29. 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(24):3315-3323.
30. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308(5720): 385-389.
31. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005; 308(5720):419-421.
32. Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308(5720):421-424.
33. Francis PJ, Schultz DW, Hamon S, Ott J, Weleber RG, Klein ML. Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration. PLoS ONE. 2007;2(11):e1197.
34. 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 U S A. 2005;102(20):7227-7232.
35. Hageman GS, Hancox LS, Taiber AJ, et al. 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.
36. Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U. 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.
37. 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(1):e5.
38. 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(4):458-462.
39. Spencer KL, Hauser MA, Olson LM, et al. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet. 2007;16(16):1986-1992.
40. Yates JR, Sepp T, Matharu BK, et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007; 357(6):553-561.
41. Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Gen. 2007;39(10): 1200-1201.
42. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet. 2009;17(1):100-104.
43. Hageman GS, Luthert PJ, Victor Chong NH, Johnson LV, Anderson DH, Mullins RF. 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.
44. Francis PJ, Zhang H, Dewan A, Hoh J, Klein ML. Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population. Mol Vis. 2008;14:1395-1400.
45. Rivera A, Fisher SA, Fritsche LG, et al. 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. 2005;14(21):3227-3236.
46. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005;77(3):389-407.
47. Kanda A, Chen W, Othman M, et al. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A. 2007; 104(41):16227-16232.
48. Fritsche LG, Loenhardt T, Janssen A, et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet. 2008;40(7):892-896.
49. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314(5801): 989-992.
50. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006; 314(5801):992-993.
51. Chen W, Stambolian D, Edwards AO, et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A. 2010; 107(16):7401-7406.
52. Neale BM, Fagerness J, Reynolds R, et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A. 2010; 107(16):7395-7400.
53. Baird PN, Guida E, Chu DT, Vu HT, Guymer RH. The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with agerelated macular degeneration. Invest Ophthalmol Vis Sci. 2004;45(5): 1311-1315.
54. Baird PN, Richardson AJ, Robman LD, et al. Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD). Hum Mut. 2006;27(4):337-342.
55. 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(1):200-206.
56. 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(2):487-491.
57. Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277(5333):1805-1807.
58. Combadiere C, Feumi C, Raoul W, et al. CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration. J Clin Invest. 2007;117(10): 2920-2928.
59. Tuo J, Smith BC, Bojanowski CM, et al. The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. Faseb J. 2004;18(11):1297-1299.
60. Baird PN, Chu D, Guida E, Vu HT, Guymer R. Association of the M55 L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration. Am J Ophthalmol. 2004;138(4): 665-666.
61. Zareparsi S, Buraczynska M, Branham KE, et al. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet. 2005;14(11):1449-1455.
62. Tuo J, Ning B, Bojanowski CM, et al. Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. Proc Natl Acad Sci U S A. 2006; 103(24):9256-9261.
63. Conley YP, Jakobsdottir J, Mah T, et al. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet. 2006; 15(21):3206-3218.
64. Conley YP, Thalamuthu A, Jakobsdottir J, 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. 2005;14(14):1991-2002.
65. Haines JL, Schnetz-Boutaud N, Schmidt S, et al. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci. 2006;47(1): 329-335.
66. 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(4):346-353.
67. Yang Z, Stratton C, Francis PJ, et al. Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med. 2008; 359(14):1456-1463.
68. Ennis S, Jomary C, Mullins R, et al. Association between the SERPING1 gene and age-related macular degeneration: a two-stage casecontrol study. Lancet. 2008;372(9652):1828-1834.
69. Churchill AJ, Carter JG, Lovell HC, et al. VEGF polymorphisms are associated with neovascular age-related macular degeneration. Hum Mol Genet. 2006;15(19):2955-2961.
70. Francis PJ, Hamon SC, Ott J, Weleber RG, Klein ML. Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss. J Med Genet. 2009;46(5):300-307.
71. Ennis S, Jomary C, Mullins R, et al. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. Lancet. 2008;372(9652):1828-1834.
72. Nakata I, Yamashiro K, Yamada R, et al. Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese. PLoS ONE. 2011;6(4): e19108.
73. Motulsky AG, Harper PS, Bobrow M, Scriver C. Pharmacogenetics. New York: Oxford University Press; 1997.
74. Arranz MJ, Collier D, Kerwin RW. Pharmacogenetics for the individualization of psychiatric treatment. Am J Pharmacogenomics. 2001; 1(1):3-10.
75. Lerer B, Segman RH. Pharmacogenetics of antipsychotic therapy: pivotal research issues and the prospects for clinical implementation. Dialogues Clin Neurosci. 2006;8(1):85-94.
76. Depondt C, Shorvon SD. Genetic association studies in epilepsy pharmacogenomics: lessons learnt and potential applications. Pharmacogenomics. 2006;7(5):731-745.
77. Weiss ST, Litonjua AA, Lange C, et al. Overview of the pharmacogenetics of asthma treatment. Pharmacogenomics J. 2006;6(5):311-326.
78. Manunta P, Bianchi G. Pharmacogenomics and pharmacogenetics of hypertension: update and perspectives-the adducin paradigm. J Am Soc Nephrol. 2006;17(4 Suppl 2):S30-S35.
79. Hess KR, Anderson K, Symmans WF, et al. Pharmacogenomic predictor of sensitivity to preoperative chemotherapy with paclitaxel and fluorouracil, doxorubicin, and cyclophosphamide in breast cancer. J Clin Oncol. 2006;24(26):4236-4244.
80. Barry EL, Baron JA, Bhat S, et al. Ornithine decarboxylase polymorphism modification of response to aspirin treatment for colorectal adenoma prevention. J Natl Cancer Inst. 2006;98(20): 1494-1500.
81. Brantley MA Jr, Fang AM, King JM, Tewari A, Kymes SM, Shiels A. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab. Ophthalmology. 2007;114(12):2168-2173.
82. Lee AY, Raya AK, Kymes SM, Shiels A, Brantley MA Jr. Pharmacogenetics of complement factor H (Y402H) and treatment of exudative agerelated macular degeneration with ranibizumab. Br J Ophthalmol. 2009;93(5):610-613.
83. Sunness JS, Gonzalez-Baron J, Applegate CA, et al. Enlargement of atrophy and visual acuity loss in the geographic atrophy form of age-related macular degeneration. Ophthalmology. 1999;106(9): 1768-1779.
84. Klein ML, Francis PJ, Rosner B, et al. CFH and LOC387715/ ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology. 2008;115(6):1019-1025.
85. Francis PJ, Hamon S, Ott J, Weleber RG, Klein M. Polymorphisms in C2, CFB and C3 are associated with progression to advanced age-related macular degeneration associated with visual loss. J Med Genet. 2009; 46(5):300-307.
86. Seddon JM, Francis PJ, George S, Schultz DW, Rosner B, Klein ML. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA. 2007;297(16):1793-1800.
87. Barbazetto I, Burdan A, Bressler NM, et al. Photodynamic therapy of subfoveal choroidal neovascularization with verteporfin: fluorescein angiographic guidelines for evaluation and treatment-TAP and VIP report No. 2. Arch Ophthalmol. 2003;121(9):1253-1268.
88. Koh AH, Ang CL. Age-related macular degeneration: what's new. Ann Acad Med Singapore. 2002;31(3):399-404.
89. Parmeggiani F, Costagliola C, Gemmati D, et al. Coagulation gene predictors of photodynamic therapy for occult choroidal neovascularization in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2008;49(7):3100-3106.
90. Parmeggiani F, Costagliola C, Gemmati D, et al. Predictive role of coagulation-balance gene polymorphisms in the efficacy of photodynamic therapy with verteporfin for classic choroidal neovascularization secondary to age-related macular degeneration. Pharmacogenet Genomics. 2007;17(12):1039-1046.
91. Parmeggiani F, Gemmati D, Costagliola C, Sebastiani A, Incorvaia C. Predictive role of C677T MTHFR polymorphism in variable efficacy of photodynamic therapy for neovascular age-related macular degeneration. Pharmacogenomics. 2009;10(1):81-95.
92. Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B. 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.
93. Zanke B, Hawken S, Carter R, Chow D. A genetic approach to stratification of risk for age-related macular degeneration. Can J Ophthalmol. 2010;45(1):22-27.
94. Chen Y, Zeng J, Zhao C, et al. Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors. Arch Ophthalmol. 2011;129(3):344-351.
95. Scholl HP, Fleckenstein M, Fritsche LG, et al. CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD. PLoS ONE. 2009;4(10):e7418.
96. Klein ML, Ferris FL 3rd, Francis PJ, et al. Progression of geographic atrophy and genotype in age-related macular degeneration. Ophthalmology. 2010;117(8):1554-1559, 1559. e1551.
97. Musunuru K, Strong A, Frank-Kamenetsky M, et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature. 2010;466(7307):714-719.