Genetic factors associated with age-related macular degeneration

Ophthalmologica

Volumn 226, Issue 3, 2011, Pages 87-102

  Leveziel, Nicolas ^a,b   Tilleul, Julien ^a   Puche, Nathalie ^a   Zerbib, Jennyfer ^a   Laloum, Franck ^a   Querques, Giuseppe ^a   Souied, Eric H ^a,b  

^a UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^b HENRI MONDOR HOSPITAL   (France)

Author keywords

Age related macular degeneration; Age related maculopathy; Age related maculopathy susceptibility 2 gene (ARMS2); Asian; Atrophic age related macular degeneration; Complement component 2, 3, 9 (C2, C3, C9); Complement factor H gene (CFH); Exudative age related macular degeneration; Genetic factors; Genetic profiling; Genome wide association studies; HtrA serine peptidase 1 gene (HTRA1); LOC387715; Missing heritability; Personalized medicine

Indexed keywords

BIOLOGICAL MARKER; COMPLEMENT FACTOR H;

COPY NUMBER VARIATION; ENVIRONMENTAL FACTOR; HEREDITY; INFLAMMATION; LINKAGE ANALYSIS; RETINA MACULA AGE RELATED DEGENERATION; REVIEW;

CHROMOSOMES, HUMAN, PAIR 10; COMPLEMENT FACTOR H; HUMANS; MACULAR DEGENERATION; PROTEINS; SERINE ENDOPEPTIDASES;

EID: 80053120340     PISSN: 00303755     EISSN: 14230267     Source Type: Journal    
DOI: 10.1159/000328981     Document Type: Review

References (191)

1. Chakravarthy U, Wong TY, Fletcher A, Piault E, Evans C, Zlateva G, Buggage R, Pleil A, Mitchell P: Clinical risk factors for agerelated macular degeneration: a systematic review and meta-analysis. BMC Ophthalmol 2010; 10: 31.
2. Klein R, Cruickshanks KJ, Nash SD, Krantz EM, Javier Nieto F, Huang GH, Pankow JS, Klein BE: The prevalence of age-related macular degeneration and associated risk factors. Arch Ophthalmol 2010; 128: 750-758.
3. Chong EW, Robman LD, Simpson JA, Hodge AM, Aung KZ, Dolphin TK, English DR, Giles GG, Guymer RH: Fat consumption and its association with age-related macular degeneration. Arch Ophthalmol 2009; 127: 674-680.
4. Seddon JM, George S, Rosner B: Cigarette smoking, fish consumption, omega-3 fatty acid intake, and associations with age-related macular degeneration: the US Twin Study of Age-related Macular Degeneration. Arch Ophthalmol 2006; 124: 995-1001. (Pubitemid 44036322)
5. Delcourt C, Carrière I, Delage M, Barberger-Gateau P, Schalch W; POLA Study Group: Plasma lutein and zeaxanthin and other carotenoids as modifiable risk factors for agerelated maculopathy and cataract: the POLA Study. Invest Ophthalmol Vis Sci 2006; 47: 2329-2335. (Pubitemid 351639812)
6. Age-Related Eye Disease Study Research Group, San Giovanni JP, Chew EY, Clemons TE, Ferris FL 3rd, Gensler G, Lindblad AS, Milton RC, Seddon JM, Sperduto RD: The relationship of dietary carotenoid and vitamin A, E, and C intake with age-related macular degeneration in a case-control study: AREDS Report No 22. Arch Ophthalmol 2007; 125: 1225-1232. (Pubitemid 47403030)
7. Despriet DD, Klaver CC, Witteman JC, Bergen AA, Kardys I, de Maat MP, Boekhoorn SS, Vingerling JR, Hofman A, Oostra BA, Uitterlinden AG, Stijnen T, van Duijn CM, de Jong PT: Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA 2006; 296: 301-309. (Pubitemid 44079314)
8. Seitsonen SP, Onkamo P, Peng G, Xiong M, Tommila PV, Ranta PH, Holopainen JM, Moilanen JA, Palosaari T, Kaarniranta K, Meri S, Immonen IR, Järvelä IE: Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration. PLoS One 2008; 3:e3833.
9. Gibson J, Cree A, Collins A, Lotery A, Ennis S: Determination of a gene and environment risk model for age-related macular degeneration. Br J Ophthalmol 2010; 94: 1382-1387.
10. Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B: Prediction model for prevalence and incidence of advanced agerelated macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci 2009; 50: 2044-2053.
11. Wang JJ, Rochtchina E, Smith W, Klein R, Klein BE, Joshi T, Sivakumaran TA, Iyengar S, Mitchell P: Combined effects of complement factor H genotypes, fish consumption, and inflammatory markers on long-term risk for age-related macular degeneration in a cohort. Am J Epidemiol 2009; 169: 633-641.
12. Schaumberg DA, Hankinson SE, Guo Q, Rimm E, Hunter DJ: A prospective study of major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. Arch Ophthalmol 2007; 125: 55-62. (Pubitemid 46072376)
13. Schmidt S, Hauser MA, Scott WK, Postel EA, Agarwal A, Gallins P, Wong F, Chen YS, Spencer K, Schnetz-Boutaud N, Haines JL, Pericak-Vance MA: Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet 2006; 78: 852-864.
14. Robman L, Baird PN, Dimitrov PN, Richardson AJ, Guymer RH: C-reactive protein levels and complement factor H polymorphism interaction in age-related macular degeneration and its progression. Ophthalmology 2010; 117: 1982-1988.
15. Meyers SM: A twin study on age-related macular degeneration. Trans Am Ophthalmol Soc 1994; 92: 775-843.
16. Meyers SM, Greene T, Gutman FA: A twin study of age-related macular degeneration. Am J Ophthalmol 1995; 120: 757-766.
17. Gottfredsdottir MS, Sverrisson T, Musch DC, Stefánsson E: Age related macular degeneration in monozygotic twins and their spouses in Iceland. Acta Ophthalmol Scand 1999; 77: 422-425. (Pubitemid 29368859)
18. 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: 730-736. (Pubitemid 34272274)
19. Grizzard SW, Arnett D, Haag SL: Twin study of age-related macular degeneration. Ophthalmic Epidemiol 2003; 10: 315-322. (Pubitemid 37449341)
20. Seddon JM, Cote J, Page WF, Aggen SH, Neale MC: The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch Ophthalmol 2005; 123: 321-327. (Pubitemid 41007575)
21. Bradley AE: Dystrophy of the macula. Am J Ophthalmol 1966; 61: 1-24.
22. Gass JDM: Drusen and disciform macular detachment and degeneration. Arch Ophthalmol 1973; 90: 206-217.
23. Hyman LG, Lilienfeld AM, Ferris FL 3rd, Fine SL: Senile macular degeneration: a casecontrol study. Am J Epidemiol 1983; 118: 213-227. (Pubitemid 13029364)
24. Silvestri G, Johnston PB, Hughes AE: Is genetic predisposition an important risk factor for age-related macular degeneration? Eye 1995; 8: 564-568. (Pubitemid 24331501)
25. Seddon JM, Ajani UA, Mitchell BD: Familial aggregation of age-related maculopathy. Am J Ophthalmol 1997; 123: 199-206. (Pubitemid 27066775)
26. 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: 1646-1651. (Pubitemid 29001964)
27. Heiba IM, Elston RC, Klein BE, Klein R: Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study. Genet Epidemiol1994; 11: 51-67. (Pubitemid 24089911)
28. Souied EH, Ducroq D, Rozet JM, Gerber S, Perrault I, Munnich A, Coscas G, Soubrane G, Kaplan J: ABCR gene analysis in familial exudative age-related macular degeneration. Invest Ophthalmol Vis Sci 2000; 41: 244-247. (Pubitemid 30036573)
29. Guymer RH, Héon E, Lotery AJ, Munier FL, Schorderet DF, Baird PN, McNeil RJ, Haines H, Sheffield VC, Stone EM: Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol 2001; 119: 745-751. (Pubitemid 32417381)
30. Schultz DW, Klein ML, Humpert AJ, Luzier CW, Persun V, Schain M, Mahan A, Runckel C, Cassera M, Vittal V, Doyle TM, Martin TM, Weleber RG, Francis PJ, Acott TS: 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. (Pubitemid 37541077)
31. Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KE, Reddick AC, Trager EH, Yoshida S, Bahling J, Filippova E, Elner S, Johnson MW, Vine AK, Sieving PA, Jacobson SG, Richards JE, Swaroop A: Agerelated 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. (Pubitemid 38325919)
32. Schick JH, Iyengar SK, Klein BE, Klein R, Reading K, Liptak R, Millard C, Lee KE, Tomany SC, Moore EL, Fijal BA, Elston RC: A whole-genome screen of a quantitative trait of age-related maculopathy in sibships from the Beaver Dam Eye Study. Am J Hum Genet 2003; 72: 1412-1424. (Pubitemid 36628381)
33. Klein ML, Schultz DW, Edwards A, Matise TC, Rust K, Berselli CB, Trzupek K, Weleber RG, Ott J, Wirtz MK, Acott TS: Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 1998; 116: 1082-1088. (Pubitemid 29101833)
34. Iyengar SK, Song D, Klein BE, Klein R, Schick JH, Humphrey J, Millard C, Liptak R, Russo K, Jun G, Lee KE, Fijal B, Elston RC: 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. (Pubitemid 38085235)
35. Majewski J, Schultz DW, Weleber RG, Schain MB, Edwards AO, Matise TC, Acott TS, Ott J, Klein ML: Age-related macular degeneration -a genome scan in extended families. Am J Hum Genet 2003; 73: 540-550. (Pubitemid 37076268)
36. 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: 780-790. (Pubitemid 37271882)
37. Weeks DE, Conley YP, Mah TS, Paul TO, Morse L, Ngo-Chang J, Dailey JP, Ferrell RE, Gorin MB: A full genome scan for age-related maculopathy. Hum Mol Genet 2000; 9: 1329-1349. (Pubitemid 30312482)
38. Jorgensen TJ, Ruczinski I, Kessing B, Smith MW, Shugart YY, Alberg AJ: Hypothesisdriven candidate gene association studies: practical design and analytical considerations. Am J Epidemiol 2009; 170: 986-993.
39. Johnson LV, Ozaki S, Staples MK, Erickson PA, Anderson DH: A potential role for immune complex pathogenesis in drusen formation. Exp Eye Res 2000; 70: 441-449. (Pubitemid 30662042)
40. 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-Bruchs membrane interface in aging and age-related macular degeneration. Prog Retin Eye Res 2001; 20: 705-732. (Pubitemid 32918285)
41. 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 (Lond) 2001; 15: 390-395. (Pubitemid 32600863)
42. Umeda S, Suzuki MT, Okamoto H, Ono F, Mizota A, Terao K, Yoshikawa Y, Tanaka Y, Iwata T: Molecular composition of drusen and possible involvement of anti-retinal autoimmunity in two different forms of macular degeneration in cynomolgus monkey (Macaca fascicularis). FASEB J 2005; 19: 1683-1685. (Pubitemid 41429529)
43. 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.
44. Bora PS, Sohn JH, Cruz JM, Jha P, Nishihori H, Wang Y, Kaliappan S, Kaplan HJ, Bora NS: Role of complement and complement membrane attack complex in laser-induced choroidal neovascularization. J Immunol 2005; 174: 491-497. (Pubitemid 40007439)
45. Kijlstra A, La Heij E, Hendrikse F: Immunological factors in the pathogenesis and treatment of age-related macular degeneration. Ocul Immunol Inflamm 2005; 13: 3-11. (Pubitemid 41702778)
46. Swaroop A, Branham KE, Chen W, Abecasis G: Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet 2007; 16: 174-182.
47. Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R: A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to agerelated macular degeneration.Proc Natl Acad Sci USA 2005; 102: 7227-7232. (Pubitemid 40696361)
48. 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: 421-424. (Pubitemid 40530082)
49. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J: Complement factor H polymorphism in age-related macular degeneration. Science 2005; 308: 385-389. (Pubitemid 40530070)
50. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA: Complement factor H variant increases the risk of age-related macular degeneration. Science 2005; 308: 419-421. (Pubitemid 40530081)
51. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM: Finding the missing heritability of complex diseases. Nature 2009; 461: 747-753.
52. Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, Barnstable C, Pang CP, Hoh J: HTRA1 promoter polymorphism in wet agerelated macular degeneration. Science 2006; 314: 989-992. (Pubitemid 44749943)
53. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research, et al: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007: 316: 1331-1336.
54. Easton DF, Pooley KA, Dunning AM, et al: Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007; 447: 1087-1093. (Pubitemid 47014426)
55. Klein C, Ziegler A: From GWAS to clinical utility in Parkinsons disease. Lancet 2011; 377: 613-614.
56. 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. (Pubitemid 34112114)
57. Baudouin C, Peyman GA, Fredj-Reygrobellet D, Gordon WC, Lapalus P, Gastaud P, Bazan NG: Immunohistological study of subretinal membranes in age-related macular degeneration. Jpn J Ophthalmol 1992; 36: 443-451. (Pubitemid 23035198)
58. Giannakis E, Jokiranta TS, Male DA, Ranganathan S, Ormsby RJ, Fischetti VA, Mold C, Gordon DL: 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. (Pubitemid 36546684)
59. Sjöberg AP, Trouw LA, Clark SJ, Sjölander J, Heinegård D, Sim RB, Day AJ, Blom AM: The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells. J Biol Chem 2007; 282: 10894-10900. (Pubitemid 47100772)
60. Skerka C, Lauer N, Weinberger AA, Keilhauer CN, Sühnel J, Smith R, Schlötzer-Schrehardt U, Fritsche L, Heinen S, Hartmann A, Weber BH, Zipfel PF: Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. Mol Immunol 2007; 44: 3398-3406. (Pubitemid 46678196)
61. Anderson DH, Radeke MJ, Gallo NB, Chapin EA, Johnson PT, Curletti CR, Hancox LS, Hu J, Ebright JN, Malek G, Hauser MA, Rickman CB, Bok D, Hageman GS, Johnson LV: The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited. Prog Retin Eye Res 2010; 29: 95-112.
62. Hayashi H, Yamashiro K, Gotoh N, Nakanishi H, Nakata I, Tsujikawa A, Otani A, Saito M, Iida T, Matsuo K, Tajima K, Yamada R, Yoshimura N: CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. Invest Ophthalmol Vis Sci 2010; 51: 5914-5919.
63. Dong L, Qu Y, Jiang H, Dai H, Zhou F, Xu X, Bi H, Pan X, Dang G: Correlation of complement factor H gene polymorphisms with exudative age-related macular degeneration in a Chinese cohort. Neurosci Lett 2011; 488: 283-287.
64. Xu Y, Guan N, Xu J, Yang X, Ma K, Zhou H, Zhang F, Snellingen T, Jiao Y, Liu X, Wang N, Liu N: Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative agerelated macular degeneration in a northern Chinese population. Mol Vis 2008; 14: 1373-1381.
65. Fuse N, Miyazawa A, Mengkegale M, Yoshida M, Wakusawa R, Abe T, Tamai M: Polymorphisms in complement Factor H and hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration. Am J Ophthalmol 2006; 142: 1074-1076. (Pubitemid 44853901)
66. Mori K, Gehlbach PL, Kabasawa S, Kawasaki I, Oosaki M, Iizuka H, Katayama S, Awata T, Yoneya S: 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: 5315-5319. (Pubitemid 351260946)
67. Kim NR, Kang JH, Kwon OW, Lee SJ, Oh JH, Chin HS: Association between complement factor H gene polymorphisms and neovascular age-related macular degeneration in Koreans. Invest Ophthalmol Vis Sci 2008; 49: 2071-2076.
68. Chen LJ, Liu DT, Tam PO, Chan WM, Liu K, Chong KK, Lam DS, Pang CP: Association of complement factor H polymorphisms with exudative age-related macular degeneration. Mol Vis 2006; 12: 1536-1542. (Pubitemid 46029772)
69. Ng TK, Chen LJ, Liu DT, Tam PO, Chan WM, Liu K, Hu YJ, Chong KK, Lau CS, Chiang SW, Lam DS, Pang CP: Multiple gene polymorphisms in the complement factor H gene are associated with exudative age related macular degeneration in Chinese. Invest Ophthalmol Vis Sci 2008; 49: 3312-3317.
70. 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.
71. Gotoh N, Yamada R, Hiratani H, Renault V, Kuroiwa S, Monet M, Toyoda S, Chida S, Mandai M, Otani A, Yoshimura N, Matsuda F: No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. Hum Genet 2006; 120: 139-143.
72. Uka J, Tamura H, Kobayashi T, Yamane K, Kawakami H, Minamoto A, Mishima HK: No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population. Retina 2006; 26: 985-987. (Pubitemid 44973215)
73. Lee KY, Vithana EN, Mathur R, Yong VH, Yeo IY, Thalamuthu A, Lee MW, Koh AH, Lim MC, How AC, Wong DW, Aung T: Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci 2008; 49: 2613-2619.
74. Kondo N, Honda S, Kuno S, Negi A: Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy. Ophthalmology. 2009; 116: 304-310.
75. Goto A, Akahori M, Okamoto H, Minami M, Terauchi N, Haruhata Y, Obazawa M, Noda T, Honda M, Mizota A, Tanaka M, Hayashi T, Tanito M, Ogata N, Iwata T: Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population. J Ocul Biol Dis Infor 2009; 2: 164-175.
76. Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT; AMD Genetics Clinical Study Group, Hageman GS, Dean M, Allikmets R: Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 2006; 38: 458-462.
77. Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL: Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet 2007; 16: 1986-1992. (Pubitemid 47354881)
78. Jakobsdottir J, Conley YP, Weeks DE, Ferrell RE, Gorin MB: C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS One 2008; 3:e2199.
79. Montes T, Tortajada A, Morgan BP, Rodríguez de Córdoba 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: 4366-4371.
80. Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT; Genetic Factors in AMD Study Group: Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 2007; 357: 553-561. (Pubitemid 47236280)
81. 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. (Pubitemid 47482689)
82. Spencer KL, Olson LM, Anderson BM, Schnetz-Boutaud N, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL: C3 R102G polymorphism increases risk of age-related macular degeneration. Hum Mol Genet 2008; 17: 1821-1824. (Pubitemid 351791509)
83. Despriet DD, van Duijn CM, Oostra BA, Uitterlinden AG, Hofman A, Wright AF, ten Brink JB, Bakker A, de Jong PT, Vingerling JR, Bergen AA, Klaver CC: Complement component C3 and risk of age-related macular degeneration. Ophthalmology 2009; 116: 474-480.
84. Park KH, Fridley BL, Ryu E, Tosakulwong N, Edwards AO: Complement component 3 (C3) haplotypes and risk of advanced agerelated macular degeneration. Invest Ophthalmol Vis Sci 2009; 50: 3386-3393.
85. Bergeron-Sawitzke J, Gold B, Olsh A, Schlotterbeck S, Lemon K, Visvanathan K, Allikmets R, Dean M: Multilocus analysis of agerelated macular degeneration. Eur J Hum Genet 2009; 17: 1190-1199.
86. Scholl HP, Fleckenstein M, Fritsche LG, Schmitz-Valckenberg S, Göbel A, Adrion C, Herold C, Keilhauer CN, Mackensen F, Mössner A, Pauleikhoff D, Weinberger AW, Mansmann U, Holz FG, Becker T, Weber BH: 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:e7418.
87. Zerbib J, Richard F, Puche N, Leveziel N, Cohen SY, Korobelnik JF, Sahel J, Munnich A, Kaplan J, Rozet JM, Souied EH: R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population. Mol Vis 2010; 16: 1324-1330.
88. Pei XT, Li XX, Bao YZ, Yu WZ, Yan Z, Qi HJ, Qian T, Xiao HX: Association of C3 gene polymorphisms with neovascular age-related macular degeneration in a Chinese population. Curr Eye Res 2009; 34: 615-622.
89. 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.
90. Ennis S, Gibson J, Cree AJ, Collins A, Lotery AJ: Support for the involvement of complement factor I in age-related macular degeneration. Eur J Hum Genet 2010; 18: 15-16.
91. Kondo N, Bessho H, Honda S, Negi A: Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration. Eur J Hum Genet 2010; 18: 634-635.
92. Yu Y, Bhangale TR, Fagerness J, Ripke S, Thorleifsson G, Tan PL, Souied EH, Richardson AJ, Merriam JE, Buitendijk GH, Reynolds R, Raychaudhuri S, Chin KA, Sobrin L, Evangelou E, Lee PH, Lee AY, Leveziel N, Zack DJ, Campochiaro B, Campochiaro P, Smith RT, Barile GR, Guymer RH, Hogg R, Chakravarthy U, Robman LD, Gustafsson O, Sigurdsson H, Ortmann W, Behrens TW, Stefansson K, Uitterlinden AG, van Duijn CM, Vingerling JR, Klaver CC, Allikmets R, Brantley MA Jr, Baird PN, Katsanis N, Thorsteinsdottir U, Ioannidis JP, Daly MJ, Graham RR, Seddon JM: Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet 2011, Epub ahead of print.
93. 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: 389-407. (Pubitemid 41192646)
94. Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH: 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. (Pubitemid 41631297)
95. Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, Chen H, Zhao Y, Pearson E, Li X, Chien J, Dewan A, Harmon J, Bernstein PS, Shridhar V, Zabriskie NA, Hoh J, Howes K, Zhang K: A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 2006; 314: 992-993. (Pubitemid 44749944)
96. Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH: Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet 2008; 40: 892-896. (Pubitemid 351913654)
97. Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR, Swaroop A: 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. (Pubitemid 350099389)
98. Wang G, Spencer KL, Court BL, Olson LM, Scott WK, Haines JL, Pericak-Vance MA: Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria. Invest Ophthalmol Vis Sci 2009; 50: 3084-3090.
99. Kortvely E, Hauck SM, Duetsch G, Gloeckner CJ, Kremmer E, Alge-Priglinger CS, Deeg CA, Ueffing M: ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. Invest Ophthalmol Vis Sci 2010; 51: 79-88.
100. Friedrich U, Myers CA, Fritsche LG, Milenkovich A, Wolf A, Corbo JC, Weber BH: Risk-and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. Hum Mol Genet 2011; 20: 1387-1399.
101. Kanda A, Stambolian D, Chen W, Curcio CA, Abecasis GR, Swaroop A: Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina. Mol Vis 2010; 16: 1317-1323.
102. An E, Sen S, Park SK, Gordish-Dressman H, Hathout Y: Identification of novel substrates for the serine protease HTRA1 in the human RPE secretome. Invest Ophthalmol Vis Sci 2010; 51: 3379-3386.
103. Yang Z, Tong Z, Chen Y, Zeng J, Lu F, Sun X, Zhao C, Wang K, Davey L, Chen H, London N, Muramatsu D, Salasar F, Carmona R, Kasuga D, Wang X, Bedell M, Dixie M, Zhao P, Yang R, Gibbs D, Liu X, Li Y, Li C, Li Y, Campochiaro B, Constantine R, Zack DJ, Campochiaro P, Fu Y, Li DY, Katsanis N, Zhang K: Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet 2010; 6:e1000836.
104. Ng TK, Yam GH, Chen WQ, Lee VY, Chen H, Chen LJ, Choy KW, Yang Z, Pang CP: Interactive expressions of HtrA1 and VEGF in human vitreous humors and fetal RPE cells. Invest Ophthalmol Vis Sci 2011, Epub ahead of print.
105. Conley YP, Jakobsdottir J, Mah T, Weeks DE, Klein R, Kuller L, Ferrell RE, Gorin MB: CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to agerelated maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet 2006; 15: 3206-3218. (Pubitemid 44605500)
106. Curcio CA, Presley JB, Malek G, Medeiros NE, Avery DV, Kruth HS: Esterified and unesterified cholesterol in drusen and basal deposits of eyes with age-related maculopathy. Exp Eye Res 2005; 81: 731-741. (Pubitemid 41790421)
107. Li CM, Chung BH, Presley JB, Malek G, Zhang X, Dashti N, Li L, Chen J, Bradley K, Kruth HS, Curcio CA: Lipoprotein-like particles and cholesteryl esters in human Bruchs membrane: initial characterization. Invest Ophthalmol Vis Sci 2005; 46: 2576-2586. (Pubitemid 43119509)
108. Pitas RE, Boyles JK, Lee SH, Hui D, Weisgraber KH: Lipoproteins and their receptors in the central nervous system. Characterization of the lipoproteins in cerebrospinal fluid and identification of apolipoprotein B,E (LDL) receptors in the brain. J Biol Chem 1987; 262: 14352-14360. (Pubitemid 17152101)
109. Schneider WJ, Nimpf J: LDL receptor relatives at the crossroad of endocytosis and signaling. Cell Mol Life Sci 2003; 60: 892-903. (Pubitemid 36735120)
110. Corbo RM, Scacchi R: Apolipoprotein E (APOE) allele distribution in the world. Is APOE 4 a thrifty allele? Ann Hum Genet 1999; 63: 301-310. (Pubitemid 30021229)
111. Klaver CC, Kliffen M, van Duijn CM, Hofman A, Cruts M, Grobbee DE, van Broeckhoven C, de Jong PT: Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet 1998; 63: 200-206. (Pubitemid 30428336)
112. Souied EH, Benlian P, Amouyel P, Feingold J, Lagarde JP, Munnich A, Kaplan J, Coscas G, Soubrane G: 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. (Pubitemid 28124364)
113. Schmidt S, Saunders AM, De La Paz MA, Postel EA, Heinis RM, Agarwal A, Scott WK, Gilbert JR, McDowell JG, Bazyk A, Gass JD, Haines JL, Pericak-Vance MA: Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis 2000; 6: 287-293.
114. Simonelli F, Margaglione M, Testa F, Cappucci G, Manitto MP, Brancato R, Rinaldi E: Apolipoprotein E polymorphisms in agerelated macular degeneration in an Italian population. Ophthalmic Res 2001; 33: 325-328. (Pubitemid 34015795)
115. Schmidt S, Klaver C, Saunders A, Postel E, De La Paz M, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, de Jong PT, van Duijn C, Haines J, Pericak-Vance M, Gorin M: A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmic Genet 2002; 23: 209-223. (Pubitemid 36238065)
116. Zareparsi S, Reddick AC, Branham KE, Moore KB, Jessup L, Thoms S, Smith-Wheelock M, Yashar BM, Swaroop A: 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. (Pubitemid 38859304)
117. 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: 1311-1315. (Pubitemid 38859305)
118. Bojanowski CM, Shen D, Chew EY, Ning B, Csaky KG, Green WR, Chan CC, Tuo J: An apolipoprotein E variant may protect against age-related macular degeneration through cytokine regulation. Environ Mol Mutagen 2006; 47: 594-602. (Pubitemid 44701595)
119. Kaur I, Hussain A, Hussain N, Das T, Pathangay A, Mathai A, Hussain A, Nutheti R, Nirmalan PK, Chakrabarti S: 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. (Pubitemid 46044283)
120. Tikellis G, Sun C, Gorin MB, Klein R, Klein BE, Larsen EK, Siscovick DS, Hubbard LD, Wong TY: Apolipoprotein E gene and agerelated maculopathy in older individuals: the cardiovascular health study. Arch Ophthalmol 2007; 125: 68-73. (Pubitemid 46072378)
121. 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: 300-307.
122. Fritsche LG, Freitag-Wolf S, Bettecken T, Meitinger T, Keilhauer CN, Krawczak M, Weber BH: Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene. Hum Mutat 2009;30: 1048-1053.
123. 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: 813-822. (Pubitemid 44627265)
124. 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: 289-291. (Pubitemid 30339158)
125. Schultz DW, Klein ML, Humpert A, Majewski J, Schain M, Weleber RG, Ott J, Acott TS: Lack of an association of apolipoprotein E gene polymorphisms with familial agerelated macular degeneration. Arch Ophthalmol 2003; 121: 679-683. (Pubitemid 36554471)
126. Gotoh N, Kuroiwa S, Kikuchi T, Arai J, Arai S, Yoshida N, Yoshimura N: Apolipoprotein E polymorphisms in Japanese patients with polypoidal choroidal vasculopathy and exudative age-related macular degeneration. Am J Ophthalmol 2004; 138: 567-573. (Pubitemid 39420483)
127. DeAngelis MM, Ji F, Kim IK, Adams S, Capone A Jr, Ott J, Miller JW, Dryja TP: Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol 2007; 125: 49-54. (Pubitemid 46072375)
128. Utheim A, Ritland JS, Utheim TP, Espeseth T, Lydersen S, Rootwelt H, Semb SO, Elsås T: Apolipoprotein E genotype and risk for development of cataract and agerelated macular degeneration. Acta Ophthalmol 2008; 86: 401-403.
129. Losonczy G, Fekete A, Vokó Z, Takács L, Káldi I, Ajzner E, Kasza M, Vajas A, Berta A, Balogh I: Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with susceptibility to age-related macular degeneration in Hungarian patients. Acta Ophthalmol 2011; 89: 255-262.
130. Payami H, Zareparsi S, Montee KR, Sexton GJ, Kaye JA, Bird TD, Yu CE, Wijsman EM, Heston LL, Litt M, Schellenberg GD: Gender difference in apolipoprotein E-associated risk for familial Alzheimer disease: a possible clue to the higher incidence of Alzheimer disease in women. Am J Hum Genet 1996; 58: 803-811.
131. Wilson PW, Schaefer EJ, Larson MG, Ordovas JM: Apolipoprotein E alleles and risk of coronary disease. A meta-analysis. Arterioscler Thromb Vasc Biol 1996; 16: 1250-1255. (Pubitemid 26339712)
132. Vergeer M, Korporaal SJ, Franssen R, Meurs I, Out R, Hovingh GK, Hoekstra M, Sierts JA, Dallinga-Thie GM, Motazacker MM, Holleboom AG, Van Berkel TJ, Kastelein JJ, Van Eck M, Kuivenhoven JA: Genetic variant of the scavenger receptor BI in humans. N Engl J Med 2011; 364: 136-145.
133. Reboul E, Abou L, Mikail C, Ghiringhelli O, André M, Portugal H, Jourdheuil-Rahmani D, Amiot MJ, Lairon D, Borel P: Lutein transport by Caco-2 TC-7 cells occurs partly by a facilitated process involving the scavenger receptor class B type I (SR-BI). Biochem J 2005; 387: 455-461. (Pubitemid 40571232)
134. Zerbib J, Seddon JM, Richard F, Reynolds R, Leveziel N, Benlian P, Borel P, Feingold J, Munnich A, Soubrane G, Kaplan J, Rozet JM, Souied EH: rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration. PLoS One 2009; 4:e7341.
135. Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, 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.
136. Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, et al: Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 2008; 40: 161-169. (Pubitemid 351171403)
137. Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, et al: Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 2009; 41: 56-65.
138. Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, 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.
139. Reynolds R, Rosner B, Seddon JM: Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration. Ophthalmology 2010; 117: 1989-1995.
140. Seddon JM, Reynolds R, Rosner B: Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration. Mol Vis 2010; 16: 2412-2424.
141. Karunadharma PP, Nordgaard CL, Olsen TW, Ferrington DA: Mitochondrial DNA damage as a potential mechanism for agerelated macular degeneration. Invest Ophthalmol Vis Sci 2010; 51: 5470-5479.
142. SanGiovanni JP, Arking DE, Iyengar SK, Elashoff M, Clemons TE, Reed GF, Henning AK, Sivakumaran TA, Xu X, DeWan A, Agrón E, Rochtchina E, Sue CM, Wang JJ, Mitchell P, Hoh J, Francis PJ, Klein ML, Chew EY, Chakravarti A: Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PLoS One 2009; 4:e5508.
143. Udar N, Atilano SR, Memarzadeh M, Boyer DS, Chwa M, Lu S, Maguen B, Langberg J, Coskun P, Wallace DC, Nesburn AB, Khatibi N, Hertzog D, Le K, Hwang D, Kenney MC: Mitochondrial DNA haplogroups associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 2009; 50: 2966-2974.
144. Jones MM, Manwaring N, Wang JJ, Rochtchina E, Mitchell P, Sue CM: Mitochondrial DNA haplogroups and age-related maculopathy. Arch Ophthalmol 2007; 125: 1235-1240. (Pubitemid 47403031)
145. Schmid-Kubista KE, Tosakulwong N, Wu Y, Ryu E, Hecker LA, Baratz KH, Brown WL, Edwards AO: Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration. Invest Ophthalmol Vis Sci 2009; 50: 5070-5079.
146. Liu MM, Agrón E, Chew E, Meyerle C, Ferris FL 3rd, Chan CC, Tuo J: Copy number variations in candidate genes in neovascular age-related macular degeneration. Invest Ophthalmol Vis Sci 2011. Epub ahead of print.
147. Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, Scherer SW, Tavaré S, Deloukas P, Hurles ME, Dermitzakis ET: Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 2007; 315: 848-853.
148. 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: 1173-1177. (Pubitemid 44470363)
149. Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, Radeke MJ, Kavanagh D, Richards A, Atkinson J, Meri S, Bergeron J, Zernant J, Merriam J, Gold B, Allikmets R, Dean M; AMD Clinical Study Group: Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against agerelated macular degeneration: characterization, ethnic distribution and evolutionary implications. Ann Med 2006; 38: 592-604. (Pubitemid 46292019)
150. Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL: Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet 2008; 17: 971-977. (Pubitemid 351426031)
151. Raychaudhuri S, Ripke S, Li M, Neale BM, Fagerness J, Reynolds R, Sobrin L, Swaroop A, Abecasis G, Seddon JM, Daly MJ: Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nat Genet 2010; 42: 553-555.
152. Heinen S, Hartmann A, Lauer N, Wiehl U, Dahse HM, Schirmer S, Gropp K, Enghardt T, Wallich R, Hälbich S, Mihlan M, Schlötzer-Schrehardt U, Zipfel PF, Skerka C: Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation. Blood 2009; 114: 2439-2447.
153. 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: 1793-1800. (Pubitemid 46658648)
154. Klein ML, Ferris FL 3rd, Francis PJ, Lindblad AS, Chew EY, Hamon SC, Ott J: Progression of geographic atrophy and genotype in age-related macular degeneration. Ophthalmology 2010; 117: 1554-1559.
155. 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: 2168-2173. (Pubitemid 350181136)
156. Leveziel N, Zerbib J, Richard F, Querques G, Morineau G, Fremeaux-Bacchi V, Coscas G, Soubrane G, Benlian P, Souied EH: Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes. Invest Ophthalmol Vis Sci 2008; 49: 3090-3094.
157. Shuler RK Jr, Schmidt S, Gallins P, Hauser MA, Scott WK, Caldwell J, Agarwal A, Haines JL, Pericak-Vance MA, Postel EA: Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration. Am J Ophthalmol 2008; 145: 303-307.
158. Brantley MA Jr, Edelstein SL, King JM, Plotzke MR, Apte RS, Kymes SM, Shiels A: Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy. Eye 2009; 23: 626-631.
159. Andreoli MT, Morrison MA, Kim BJ, Chen L, Adams SM, Miller JW, DeAngelis MM, Kim IK: 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: 869-874.
160. Gotoh N, Yamada R, Nakanishi H, et al: Correlation between CFH Y402H and HTRA1 rs11200638 genotype to typical exudative age-related macular degeneration and polypoidal choroidal vasculopathy phenotype in the Japanese population. Clin Experiment Ophthalmol 2008; 36: 437-442.
161. Leveziel N, Puche N, Richard F, Somner JE, Zerbib J, Bastuji-Garin S, Cohen SY, Korobelnik JF, Sahel J, Soubrane G, Benlian P, Souied EH: Genotypic influences on severity of exudative age-related macular degeneration. Invest Ophthalmol Vis Sci 2010; 51: 2620-2625.
162. Chen Y, Zeng J, Zhao C, Wang K, Trood E, Buehler J, Weed M, Kasuga D, Bernstein PS, Hughes G, Fu V, Chin J, Lee C, Crocker M, Bedell M, Salasar F, Yang Z, Goldbaum M, Ferreyra H, Freeman WR, Kozak I, Zhang K: Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors. Arch Ophthalmol 2011; 129: 344-351.
163. Wegscheider BJ, Weger M, Renner W, Steinbrugger I, März W, Mossböck G, Temmel W, El-Shabrawi Y, Schmut O, Jahrbacher R, Haas A: Association of complement factor H Y402H gene polymorphism with different subtypes of exudative agerelated macular degeneration. Ophthalmology 2007; 114: 738-742. (Pubitemid 46483679)
164. Brantley MA Jr, Edelstein SL, King JM, Apte RS, Kymes SM, Shiels A: Clinical phenotypes associated with the complement factor H Y402H variant in age-related macular degeneration. Am J Ophthalmol 2007; 144: 404-408.
165. Goverdhan SV, Hannan S, Newsom RB, Luff AJ, Griffiths H, Lotery AJ: An analysis of the CFH Y402H genotype in AMD patients and controls from the UK, and response to PDT treatment. Eye (Lond) 2008; 22: 849-854. (Pubitemid 351850525)
166. Sobrin L, Reynolds R, Yu Y, Fagerness J, Leveziel N, Bernstein PS, Souied EH, Daly MJ, Seddon JM: ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. Am J Ophthalmol 2011; 151: 345-352.
167. Nakanishi H, Yamashiro K, Yamada R, Gotoh N, Hayashi H, Nakata I, Saito M, Iida T, Oishi A, Kurimoto Y, Matsuo K, Tajima K, Matsuda F, Yoshimura N: Joint effect of cigarette smoking and CFH and LOC387715/HTRA1 polymorphisms on polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci 2010; 51: 6183-6187.
168. Seddon JM, Reynolds R, Rosner B: Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies. Invest Ophthalmol Vis Sci 2009; 50: 586-591.
169. Munch IC, Ek J, Kessel L, Sander B, Almind GJ, Brndum-Nielsen K, Linneberg A, Larsen M: Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study. Invest Ophthalmol Vis Sci 2010; 51: 2317-2321.
170. Grassi MA, Folk JC, Scheetz TE, Taylor CM, Sheffield VC, and Stone EM: Complement factor H polymorphism p.Tyr402His and cuticular drusen. Arch Ophthalmol 2007; 125: 93-97. (Pubitemid 46072383)
171. Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI: Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am J Hum Genet 2008; 82: 516-523. (Pubitemid 351726101)
172. Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, Moore AT, Bird AC, Yates JR: 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. (Pubitemid 46768378)
173. Hughes AE, Orr N, Patterson C, Esfandiary H, Hogg R, McConnell V, Silvestri G, Chakravarthy U: Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. PLoS Med 2007; 4:e355.
174. Francis PJ, George S, Schultz DW, Rosner B, Hamon S, Ott J, Weleber RG, Klein ML, Seddon JM: The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered 2007; 63: 212-218. (Pubitemid 46457590)
175. Wang JJ, Ross RJ, Tuo J, Burlutsky G, Tan AG, Chan CC, Favaloro EJ, Williams A, Mitchell P: The LOC387715 polymorphism, inflammatory markers, smoking, and age-related macular degeneration. A population-based case-control study. Ophthalmology 2008; 115: 693-699. (Pubitemid 351443012)
176. Lee SJ, Kim NR, Chin HS: LOC387715/ HTRA1 polymorphisms, smoking and combined effects on exudative age-related macular degeneration in a Korean population. Clin Experiment Ophthalmol 2010; 38: 698-704.
177. Age-related Eye Disease Study Report Number 3. Ophthalmology 2000; 107: 2224-2232.
178. Delcourt C, Michel F, Colvez A, Lacroux A, Delage M, Vernet MH; POLA Study Group: Associations of cardiovascular disease and its risk factors with age-related macular degeneration: the POLA study. Ophthalmic Epidemiol 2001; 8: 237-249. (Pubitemid 32681944)
179. Seddon JM, Cote J, Davis N, Rosner B: Progression of age-related macular degeneration: association with body mass index, waist circumference, and waist-hip ratio. Arch Ophthalmol 2003; 121: 785-792. (Pubitemid 36676214)
180. Clemons TE, Milton RC, Klein R, Seddon JM, Ferris FL 3rd; Age-related Eye Disease Study Research Group: 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. (Pubitemid 41108849)
181. 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. (Pubitemid 44385444)
182. Lee SY, McLeod HL: Pharmacogenetic tests in cancer chemotherapy: what physicians should know for clinical application. J Pathol 2011; 223: 15-27.
183. Ellsworth RE, Decewicz DJ, Shriver CD, Ellsworth DL: Breast cancer in the personal genomics era. Curr Genomics 2010; 11: 146-161.
184. Age-Related Eye Disease Study Research Group: A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, -carotene, and zinc for age-related macular degeneration and vision loss: AREDS report No 8. Arch Ophthalmol 2001; 119: 1417-1436.
185. Klein ML, Francis PJ, Rosner B, Reynolds R, Hamon SC, Schultz DW, Ott J, Seddon JM: CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology 2008; 115: 1019-1025.
186. Tsuchihashi T, Mori K, Horie-Inoue K, Gehlbach PL, Kabasawa S, Takita H, Ueyama K, Okazaki Y, Inoue S, Awata T, Katayama S, Yoneya S: Complement factor H and high-temperature requirement A-1 genotypes and treatment response of agerelated macular degeneration. Ophthalmology 2011; 118: 93-100.
187. Kloeckener-Gruissem B, Barthelmes D, Labs S, Schindler C, Kurz-Levin M, Michels S, Fleischhauer J, Berger W, Sutter F, Menghini M: Genetic association with response to intravitreal ranibizumab (Lucentis) in neovascular AMD patients. Invest Ophthalmol Vis Sci 2011. Epub ahead of print.
188. Wickremasinghe SS, Xie J, Lim J, Chauhan DS, Robman L, Richardson AJ, Hageman G, Baird PN, Guymer R: Variants in the APOE Gene are Associated with Improved Treatment Outcome Following Anti-VEGF Therapy for Neovascular AMD. Invest Ophthalmol Vis Sci 2011. Epub ahead of print.
189. McDermott U, Downing JR, Stratton MR: Genomics and the continuum of cancer care. N Engl J Med 2011; 364: 340-350.
190. Janssens AC, Moonesinghe R, Yang Q, Steyerberg EW, van Duijn CM, Khoury MJ: The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases. Genet Med 2007; 9: 528-535. (Pubitemid 47282041)
191. Gu J, Pauer GJ, Yue X, Narendra U, Sturgill GM, Bena J, Gu X, Peachey NS, Salomon RG, Hagstrom SA, Crabb JW; Clinical Genomic and Proteomic AMD Study Group: Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers. Mol Cell Proteomics 2009; 8: 1338-1349.