Age-related macular degeneration-clinical review and genetics update

Clinical Genetics

Volumn 84, Issue 2, 2013, Pages 160-166

  Ratnapriya, R ^a   Chew, E Y ^a  

^a NATIONAL EYE INSTITUTE   (United States)

Author keywords

Age related macular degeneration; Disease management; Exome chip; GWAS; Rare variant association; Risk prediction; Whole exome sequencing; Whole genome sequencing

Indexed keywords

AFLIBERCEPT; ALPHA TOCOPHEROL; ASCORBIC ACID; BETA CAROTENE; BEVACIZUMAB; CUPRIC OXIDE; DOCOSAHEXAENOIC ACID; ICOSAPENTAENOIC ACID; OMEGA 3 FATTY ACID; RANIBIZUMAB; UNCLASSIFIED DRUG; VASCULOTROPIN INHIBITOR; VEGF TRAP EYE; XANTHOPHYLL; ZEAXANTHIN; ZINC OXIDE;

ENVIRONMENTAL FACTOR; GENETIC VARIABILITY; GENETICS; GENOMICS; HUMAN; MOLECULAR DIAGNOSIS; PHARMACOGENOMICS; PREDICTION; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); RETINA MACULA AGE RELATED DEGENERATION; REVIEW; RISK ASSESSMENT; RISK FACTOR;

AGE-RELATED MACULAR DEGENERATION; DISEASE MANAGEMENT; EXOME-CHIP; GWAS; RARE-VARIANT ASSOCIATION; RISK PREDICTION; WHOLE-EXOME SEQUENCING; WHOLE-GENOME SEQUENCING;

BIOLOGICAL MARKERS; DISEASE PROGRESSION; HUMANS; MACULAR DEGENERATION; PHARMACOGENETICS; PROGNOSIS; RISK FACTORS;

EID: 84880169545     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12206     Document Type: Review

References (71)

1. Smith W, Assink J, Klein Ret al. Risk factors for age-related macular degeneration: pooled findings from three continents. Ophthalmology 2001: 108: 697-704.
2. Friedman DS, O'Colmain BJ, Munoz B et al. Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol 2004: 122: 564-572.
3. Ferris FL, Davis MD, Clemons TE et al. A simplified severity scale for age-related macular degeneration: AREDS Report No. 18. Arch Ophthalmol 2005: 123: 1570-1574.
4. Chakravarthy U, Wong TY, Fletcher A et al. Clinical risk factors for age-related macular degeneration: a systematic review and meta-analysis. BMC Ophthalmol 2010: 10: 31.
5. Klein R, Peto T, Bird A, Vannewkirk, MR. The epidemiology of age-related macular degeneration. Am J Ophthalmol 2004: 137: 486-495.
6. 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: 373-380.
7. 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.
8. Munch IC, Linneberg A, Larsen M. Precursors of age-related macular degeneration: associations with physical activity, obesity and serum lipids in the Inter99 Eye Study. Invest Ophthalmol Vis Sci 2013: 54 (6): 3932-3940.
9. Kabasawa S, Mori K, Horie-Inoue K et al. Associations of cigarette smoking but not serum fatty acids with age-related macular degeneration in a Japanese population. Ophthalmology 2011: 118: 1082-1088.
10. Spencer KL, Olson LM, Schnetz-Boutaud N et al. Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration. PLoS One 2011: 6: e17784.
11. Iyengar SK, Song D, Klein BE et al. Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration. Am J Hum Genet 2004: 74: 20-39.
12. 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: 1082-1088.
13. Weeks DE, Conley YP, Tsai HJ et al. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet 2004: 75: 174-189.
14. Abecasis GR, Yashar BM, Zhao Y et al. Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet 2004: 74: 482-494.
15. Edwards AO, Ritter R 3rd, Abel KJ et al. Complement factor H polymorphism and age-related macular degeneration. Science 2005: 308: 421-424.
16. 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.
17. Klein RJ, Zeiss C, Chew EY et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005: 308: 385-389.
18. 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.
19. 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.
20. 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 Genet 2007: 39: 1200-1201.
21. 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: 553-561.
22. 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.
23. 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: 100-104.
24. Dewan A, Liu M, Hartman S et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 2006: 314: 989-992.
25. 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: 3227-3236.
26. 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 USA 2007: 104: 16227-16232.
27. 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 USA 2010: 107: 7401-7406.
28. 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 USA 2010: 107: 7395-7400.
29. Yu Y, Bhangale TR, Fagerness J et al. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet 2011: 20: 3699-3709.
30. Arakawa S, Takahashi A, Ashikawa K et al. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nat Genet 2011: 43: 1001-1004.
31. 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: 200-206.
32. McKay GJ, Patterson CC, Chakravarthy U et al. Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat 2011: 32: 1407-1416.
33. Zareparsi S, Reddick AC, Branham KE et al. Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center. Invest Ophthalmol Vis Sci 2004: 45: 1306-1310.
34. The AMD Gene Consortium, Fritsche LG, Chen W et al. Seven new loci associated with age-related macular degeneration. Nat Genet 2013: 45: 433-439.
35. Gorin MB. Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics. Mol Aspects Med 2012: 33: 467-486.
36. Priya RR, Chew EY, Swaroop A. Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management. Ophthalmology 2012: 119: 2526-2536.
37. Swaroop A, Chew EY, Rickman CB, Abecasis GR. Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet 2009: 10: 19-43.
38. 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.
39. Chew EY, Clemons TE, Agron E et al. Long-term effects of vitamins C and E, beta-carotene, and zinc on age-related macular degeneration: AREDS Report No. 35. Ophthalmology 2013. Apr 10. DOI:pii: S0161-6420(13)00036-5.10.1016/j.ophtha.2013.01.021. [Epub ahead of print]
40. SanGiovanni JP, Agron E, Clemons TE, Chew EY. Omega-3 long-chain polyunsaturated fatty acid intake inversely associated with 12-year progression to advanced age-related macular degeneration. Arch Ophthalmol 2009: 127: 110-112.
41. Sangiovanni JP, Agron E, Meleth AD et al. {omega}-3 Long-chain polyunsaturated fatty acid intake and 12-y incidence of neovascular age-related macular degeneration and central geographic atrophy: AREDS report 30, a prospective cohort study from the Age-Related Eye Disease Study. Am J Clin Nutr 2009: 90: 1601-1607.
42. SanGiovanni JP, Chew EY, Agron E et al. The relationship of dietary omega-3 long-chain polyunsaturated fatty acid intake with incident age-related macular degeneration: AREDS report no. 23. Arch Ophthalmol 2008: 126: 1274-1279.
43. Age-Related Eye Disease Study 2 Research Group. Lutein + zeaxanthin and omega-3 fatty acids for age-related macular degeneration: the Age-Related Eye Disease Study 2 (AREDS2) randomized clinical trial. JAMA 2013: 309: 2005-2015.
44. 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.
45. Frank RN, Amin RH, Eliott D, Puklin JE, Abrams GW. Basic fibroblast growth factor and vascular endothelial growth factor are present in epiretinal and choroidal neovascular membranes. Am J Ophthalmol 1996: 122: 393-403.
46. Ho L, van Leeuwen R, Witteman JC et al. Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and omega-3 fatty acids: the Rotterdam study. Arch Ophthalmol 2011: 129: 758-766.
47. Schaumberg DA, Hankinson SE, Guo Q et al. A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. Arch Ophthalmol 2007: 125: 55-62.
48. Jakobsdottir J, Gorin MB, Conley YP, Ferrell RE, Weeks DE. Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers. PLoS Genet 2009: 5: e1000337.
49. Grassmann F, Fritsche LG, Keilhauer CN, Heid IM, Weber BH. Modelling the genetic risk in age-related macular degeneration. PLoS One 2012: 7: e37979.
50. van Wijngaarden P, Coster DJ, Williams KA. Inhibitors of ocular neovascularization: promises and potential problems. JAMA 2005: 293: 1509-1513.
51. CATT research Group, Martin DF, Maguire MG et al. Ranibizumab and bevacizumab for neovascular age-related macular degeneration. N Engl J Med 2011: 364: 1897-1908.
52. Rosenfeld PJ, Brown DM, Heier JS et al. Ranibizumab for neovascular age-related macular degeneration. N Engl J Med 2006: 355: 1419-1431.
53. Brantley MA Jr, Fang AM, King JM et al. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab. Ophthalmology 2007: 114: 2168-2173.
54. Lee AY, Raya AK, Kymes SM, Shiels A, Brantley MA Jr. Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab. Br J Ophthalmol 2009: 93: 610-613.
55. McKibbin M, Ali M, Bansal S et al. CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration. Br J Ophthalmol 2012: 96 (2): 208.
56. 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: 1019-1025.
57. Gorin MB. A clinician's view of the molecular genetics of age-related maculopathy. Arch Ophthalmol 2007: 125: 21-29.
58. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 2009: 461: 747-753.
59. Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010: 11: 31-46.
60. Priya RR, Rajasimha HK, Brooks MJ, Swaroop A. Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery. Methods Mol Biol 2012: 884: 335-351.
61. Bamshad MJ, Ng SB, Bigham AW et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011: 12: 745-755.
62. Gibson G. Rare and common variants: twenty arguments. Nat Rev Genet 2011: 13: 135-145.
63. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008: 40: 695-701.
64. Raychaudhuri S, Iartchouk O, Chin K et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet 2011: 43: 1232-1236.
65. van de Ven JP, Nilsson SC, Tan PL et al. A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat Genet 2013: May 19. DOI: 10.1038/ng.2640. [Epub ahead of print]
66. Do R, Kathiresan S, Abecasis GR. Exome sequencing and complex disease: practical aspects of rare variant association studies. Hum Mol Genet 2012: 21: R1-R9.
67. Weber BH, Vogt G, Pruett RC, Stohr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994: 8: 352-356.
68. Allikmets R, Singh N, Sun H et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997: 15: 236-246.
69. 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.
70. 1000 Genome Project Consortium, Abecasis GR, Auton A et al. An integrated map of genetic variation from 1, 092 human genomes. Nature 2012: 491: 56-65.
71. Fu W, O'Connor TD, Jun G et al. Analysis of 6, 515 exomes reveals the recent origin of most human protein-coding variants. Nature 2013: 493: 216-220.