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Genetics of Age-Related Macular Degeneration

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Age-related Macular Degeneration Diagnosis and Treatment

Abstract

Age-related Macular Degeneration (AMD) is a multifactorial disease involving genetic and environmental influences. Complement Factor H (CFH) and HTRA1/LOC387715 are the two main loci associated with AMD. A genetic understanding of AMD may allow for early diagnosis and treatment.

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References

  1. Friedman DS, O’Colmain BJ, Munoz B, et al. Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol. 2004;122(4):564–72.

    PubMed  Google Scholar 

  2. Seddon JM, Ajani UA, Mitchell BD. Familial aggregation of age-related maculopathy. Am J Ophthalmol. 1997;123(2):199–206.

    PubMed  CAS  Google Scholar 

  3. De Jong PT, Klaver CC, Wolfs RC, Assink JJ, Hofman A. Familial aggregation of age-related maculopathy. Am J Ophthalmol. 1997;124(6):862–3.

    PubMed  Google Scholar 

  4. Klaver CC, Wolfs RC, Assink JJ, van Duijn CM, Hofman A, de Jong PT. Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch Ophthalmol. 1998;116(12):1646–51.

    PubMed  CAS  Google Scholar 

  5. Silvestri G, Johnston PB, Hughes AE. Is genetic predisposition an important risk factor in age-related macular degeneration? Eye (Lond). 1994;8(Pt 5):564–8.

    Google Scholar 

  6. Klein ML, Mauldin WM, Stoumbos VD. Heredity and age-related macular degeneration. Observations in monozygotic twins. Arch Ophthalmol. 1994;112(7):932–7.

    PubMed  CAS  Google Scholar 

  7. Meyers SM, Greene T, Gutman FA. A twin study of age-related macular degeneration. Am J Ophthalmol. 1995;120(6):757–66.

    PubMed  CAS  Google Scholar 

  8. Hammond CJ, Webster AR, Snieder H, Bird AC, Gilbert CE, Spector TD. Genetic influence on early age-related maculopathy: a twin study. Ophthalmology. 2002;109(4):730–6.

    PubMed  Google Scholar 

  9. Bressler SB, Munoz B, Solomon SD, West SK. Racial differences in the prevalence of age-related macular degeneration: the Salisbury Eye Evaluation (SEE) Project. Arch Ophthalmol. 2008;126(2):241–5.

    PubMed  Google Scholar 

  10. Friedman DS, Katz J, Bressler NM, Rahmani B, Tielsch JM. Racial differences in the prevalence of age-related macular degeneration: the Baltimore eye survey. Ophthalmology. 1999;106(6):1049–55.

    PubMed  CAS  Google Scholar 

  11. Klein R, Klein BE, Jensen SC, Mares-Perlman JA, Cruickshanks KJ, Palta M. Age-related maculopathy in a multiracial United States population: the national health and nutrition examination survey III. Ophthalmology. 1999;106(6):1056–65.

    PubMed  CAS  Google Scholar 

  12. 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):373–80.

    PubMed  Google Scholar 

  13. Varma R, Fraser-Bell S, Tan S, Klein R, Azen SP. Prevalence of age-related macular degeneration in Latinos: the Los Angeles Latino eye study. Ophthalmology. 2004;111(7):1288–97.

    PubMed  Google Scholar 

  14. Kawasaki R, Yasuda M, Song SJ, et al. The prevalence of age-related macular degeneration in Asians: a systematic review and meta-analysis. Ophthalmology. 2010;117:921–7.

    PubMed  Google Scholar 

  15. 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(3):482–94.

    PubMed  CAS  Google Scholar 

  16. 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(1):20–39.

    PubMed  CAS  Google Scholar 

  17. 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):1082–8.

    PubMed  CAS  Google Scholar 

  18. 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):540–50.

    PubMed  CAS  Google Scholar 

  19. 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;5:18.

    PubMed  Google Scholar 

  20. Seddon JM, Santangelo SL, Book K, Chong S, Cote J. A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet. 2003;73(4):780–90.

    PubMed  CAS  Google Scholar 

  21. Weeks DE, Conley YP, Tsai HJ, et al. Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions. Am J Ophthalmol. 2001;132(5):682–92.

    PubMed  CAS  Google Scholar 

  22. Weeks DE, Conley YP, Mah TS, et al. A full genome scan for age-related maculopathy. Hum Mol Genet. 2000;9(9):1329–49.

    PubMed  CAS  Google Scholar 

  23. 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(2):174–89.

    PubMed  CAS  Google Scholar 

  24. Fisher SA, Abecasis GR, Yashar BM, et al. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. 2005;14(15):2257–64.

    PubMed  CAS  Google Scholar 

  25. 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):3315–23.

    PubMed  CAS  Google Scholar 

  26. 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(3):411–31.

    PubMed  CAS  Google Scholar 

  27. Donoso LA, Kim D, Frost A, Callahan A, Hageman G. The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol. 2006;51(2):137–52.

    PubMed  Google Scholar 

  28. Edwards AO, Ritter 3rd R, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308(5720):421–4.

    PubMed  CAS  Google Scholar 

  29. 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(6):887–96.

    PubMed  CAS  Google Scholar 

  30. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308(5720):385–9.

    PubMed  CAS  Google Scholar 

  31. 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(7):835–46.

    PubMed  CAS  Google Scholar 

  32. Scholl HP, Charbel Issa P, Walier M, et al. Systemic complement activation in age-related macular degeneration. PLoS ONE. 2008;3(7):e2593.

    PubMed  Google Scholar 

  33. Sivaprasad S, Chong NV. The complement system and age-related macular degeneration. Eye (Lond). 2006;20(8):867–72.

    CAS  Google Scholar 

  34. Giannakis E, Jokiranta TS, Male DA, et al. A common site within factor H SCR 7 responsible for binding heparin, C-reactive protein and streptococcal M protein. Eur J Immunol. 2003;33(4):962–9.

    PubMed  CAS  Google Scholar 

  35. Thakkinstian A, Han P, McEvoy M, et al. Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet. 2006;15(18):2784–90.

    PubMed  CAS  Google Scholar 

  36. 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):1793–800.

    PubMed  CAS  Google Scholar 

  37. Ting AY, Lee TK, MacDonald IM. Genetics of age-related macular degeneration. Curr Opin Ophthalmol. 2009;20(5):369–76.

    PubMed  Google Scholar 

  38. Grassi MA, Fingert JH, Scheetz TE. Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. Hum Mutat. 2006;27(9):921–5.

    PubMed  CAS  Google Scholar 

  39. 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.

    PubMed  Google Scholar 

  40. 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(9):1055–9.

    PubMed  CAS  Google Scholar 

  41. Cui L, Zhou H, Yu J, et al. Noncoding variant in the complement factor H gene and risk of exudative age-related macular degeneration in a Chinese population. Invest Ophthalmol Vis Sci. 2010;51(2):1116–20.

    PubMed  Google Scholar 

  42. 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(9):1049–54.

    PubMed  CAS  Google Scholar 

  43. Mori K, Gehlbach PL, Kabasawa S, et al. Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population. Invest Ophthalmol Vis Sci. 2007;48(11):5315–9.

    PubMed  Google Scholar 

  44. 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):458–62.

    PubMed  CAS  Google Scholar 

  45. 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):1986–92.

    PubMed  CAS  Google Scholar 

  46. Montes T, Tortajada A, Morgan BP, Rodriguez de Cordoba S, Harris CL. Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B. Proc Natl Acad Sci USA. 2009;106(11):4366–71.

    PubMed  CAS  Google Scholar 

  47. Despriet DD, van Duijn CM, Oostra BA, et al. Complement component C3 and risk of age-related macular degeneration. Ophthalmology. 2009;116(3):474–80. e472.

    PubMed  Google Scholar 

  48. 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(10):1200–1.

    PubMed  CAS  Google Scholar 

  49. Spencer KL, Olson LM, Anderson BM, et al. C3 R102G polymorphism increases risk of age-related macular degeneration. Hum Mol Genet. 2008;17(12):1821–4.

    PubMed  CAS  Google Scholar 

  50. 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):553–61.

    PubMed  CAS  Google Scholar 

  51. 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):1449–55.

    PubMed  CAS  Google Scholar 

  52. 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): 1456–63.

    PubMed  CAS  Google Scholar 

  53. Lip PL, Blann AD, Hope-Ross M, Gibson JM, Lip GY. Age-related macular degeneration is associated with increased vascular endothelial growth factor, hemorheology and endothelial dysfunction. Ophthalmology. 2001;108(4):705–10.

    PubMed  CAS  Google Scholar 

  54. Kliffen M, Sharma HS, Mooy CM, Kerkvliet S, de Jong PT. Increased expression of angiogenic growth factors in age-related maculopathy. Br J Ophthalmol. 1997;81(2):154–62.

    PubMed  CAS  Google Scholar 

  55. Churchill AJ, Carter JG, Lovell HC, et al. VEGF polymorphisms are associated with neovascular age-related macular degeneration. Hum Mol Genet. 2006;15(19):2955–61.

    PubMed  CAS  Google Scholar 

  56. Allikmets R, Dean M. Bringing age-related macular degeneration into focus. Nat. Genet. 2008;40(7):820–821.

    PubMed  Google Scholar 

  57. Andreoli MT, Morrison MA, Kim BJ, et al. Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration. Am J Ophthalmol. 2009;148(6):869–74.

    PubMed  CAS  Google Scholar 

  58. 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):3206–18.

    PubMed  CAS  Google Scholar 

  59. 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):3227–36.

    PubMed  CAS  Google Scholar 

  60. Shuler Jr RK, Schmidt S, Gallins P, et al. Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration. Am J Ophthalmol. 2008;145(2):303–7.

    PubMed  CAS  Google Scholar 

  61. 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.

    PubMed  CAS  Google Scholar 

  62. Schaumberg DA, Hankinson SE, Guo Q, Rimm E, Hunter DJ. A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. Arch Ophthalmol. 2007;125(1):55–62.

    PubMed  CAS  Google Scholar 

  63. 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(5):852–64.

    PubMed  CAS  Google Scholar 

  64. 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):892–6.

    PubMed  CAS  Google Scholar 

  65. Yang Z, Tong Z, Chen Y, et al. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet. 2010;6(2):e1000836.

    PubMed  Google Scholar 

  66. 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(41):16227–32.

    PubMed  CAS  Google Scholar 

  67. Wang G, Spencer KL, Court BL, et al. Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria. Invest Ophthalmol Vis Sci. 2009;50(7):3084–90.

    PubMed  Google Scholar 

  68. Cameron DJ, Yang Z, Gibbs D, et al. HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration. Cell Cycle. 2007;6(9):1122–5.

    PubMed  CAS  Google Scholar 

  69. Chen H, Yang Z, Gibbs D, et al. Association of HTRA1 polymorphism and bilaterality in advanced age-related macular degeneration. Vision Res. 2008;48(5):690–4.

    PubMed  CAS  Google Scholar 

  70. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314(5801):989–92.

    PubMed  CAS  Google Scholar 

  71. Gibbs D, Yang Z, Constantine R, et al. Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration. Vision Res. 2008;48(5):685–9.

    PubMed  CAS  Google Scholar 

  72. Lu F, Hu J, Zhao P, et al. HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population. Vision Res. 2007;47(24):3120–3.

    PubMed  CAS  Google Scholar 

  73. Mori K, Horie-Inoue K, Kohda M, et al. Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population. J Hum Genet. 2007;52(7):636–41.

    PubMed  CAS  Google Scholar 

  74. 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):992–3.

    PubMed  CAS  Google Scholar 

  75. Yoshida T, DeWan A, Zhang H, et al. HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration. Mol Vis. 2007;13:545–8.

    PubMed  CAS  Google Scholar 

  76. Chen W, Xu W, Tao Q, et al. Meta-analysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration. Exp Eye Res. 2009;89(3):292–300.

    PubMed  CAS  Google Scholar 

  77. Grau S, Richards PJ, Kerr B, et al. The role of human HtrA1 in arthritic disease. J Biol Chem. 2006;281(10):6124–9.

    PubMed  CAS  Google Scholar 

  78. Yang Z et al. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet. 2010;6(2):e1000836.

    PubMed  Google Scholar 

  79. Han X. The role of apolipoprotein E in lipid metabolism in the central nervous system. Cell Mol Life Sci. 2004;61(15):1896–906.

    PubMed  CAS  Google Scholar 

  80. Baird PN, Guida E, Chu DT, Vu HT, Guymer RH. The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2004;45(5):1311–5.

    PubMed  Google Scholar 

  81. 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):200–6.

    PubMed  CAS  Google Scholar 

  82. 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(4):209–23.

    PubMed  Google Scholar 

  83. Schmidt S, Saunders AM, De La Paz MA, et al. Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis. 2000;6:287–93.

    PubMed  CAS  Google Scholar 

  84. Simonelli F, Margaglione M, Testa F, et al. Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population. Ophthalmic Res. 2001;33(6):325–8.

    PubMed  CAS  Google Scholar 

  85. Pang CP, Baum L, Chan WM, Lau TC, Poon PM, Lam DS. The apolipoprotein E epsilon4 allele is unlikely to be a major risk factor of age-related macular degeneration in Chinese. Ophthalmologica. 2000;214(4):289–91.

    PubMed  CAS  Google Scholar 

  86. 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(5):1306–10.

    PubMed  Google Scholar 

  87. Thakkinstian A, Bowe S, McEvoy M, Smith W, Attia J. Association between apolipoprotein E polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis. Am J Epidemiol. 2006;164(9):813–22.

    PubMed  Google Scholar 

  88. Fiotti N, Pedio M, Battaglia Parodi M, et al. MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration. Genet Med. 2005;7(4):272–7.

    PubMed  CAS  Google Scholar 

  89. 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):346–53.

    PubMed  CAS  Google Scholar 

  90. Lotery AJ, Baas D, Ridley C, et al. Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat. 2006;27(6):568–74.

    PubMed  CAS  Google Scholar 

  91. Fisher SA, Rivera A, Fritsche LG, et al. Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). Hum Mutat. 2007;28(4):406–13.

    PubMed  CAS  Google Scholar 

  92. 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(2):111–9.

    PubMed  CAS  Google Scholar 

  93. Zhang K, Kniazeva M, Han M, et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001;27(1):89–93.

    PubMed  CAS  Google Scholar 

  94. Agbaga MP, Brush RS, Mandal MN, Henry K, Elliott MH, Anderson RE. Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids. Proc Natl Acad Sci USA. 2008;105(35):12843–8.

    PubMed  CAS  Google Scholar 

  95. 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.

    PubMed  CAS  Google Scholar 

  96. Ayyagari R, Zhang K, Hutchinson A, et al. Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genet. 2001;22(4):233–9.

    PubMed  CAS  Google Scholar 

  97. Yang Z et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314(5801):992–3.

    PubMed  CAS  Google Scholar 

  98. 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.

    PubMed  Google Scholar 

  99. DeAngelis MM, Ji F, Kim IK, et al. Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol. 2007;125(1):49–54.

    PubMed  CAS  Google Scholar 

  100. Despriet DD, Klaver CC, Witteman JC, et al. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA. 2006;296(3):301–9.

    PubMed  Google Scholar 

  101. 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):212–8.

    PubMed  Google Scholar 

  102. 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):157–65.

    PubMed  CAS  Google Scholar 

  103. Seddon JM, Willett WC, Speizer FE, Hankinson SE. A prospective study of cigarette smoking and age-related macular degeneration in women. JAMA. 1996;276(14):1141–6.

    PubMed  CAS  Google Scholar 

  104. Thornton J, Edwards R, Mitchell P, Harrison RA, Buchan I, Kelly SP. Smoking and age-related macular degeneration: a review of association. Eye (Lond). 2005;19(9):935–44.

    CAS  Google Scholar 

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Correspondence to Daniel T. Kasuga B.S. .

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Kasuga, D.T., Chen, Y., Zhang, K. (2011). Genetics of Age-Related Macular Degeneration. In: Ho, A., Regillo, C. (eds) Age-related Macular Degeneration Diagnosis and Treatment. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-0125-4_1

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