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24. Nozaki M, Raisler BJ, Sakurai E, Sarma JV, Barnum SR, Lambris
JD, Chen Y, Zhang K, Ambati BK, Baffi JZ, Ambati J. Drusen
complement components C3a and C5a promote choroidal neo-
vascularization. Proc Natl Acad Sci U S A 2006; 103 (7): 2328-33.
25. Despriet DD, van Duijn CM, Oostra BA, Uitterlinden AG, Hof-
man 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
(3):474-480.e2.
26. Weeks DE, Conley YP, Tsai HJ, Mah TS, Schmidt S, Postel EA,
Agarwal A, Haines JL, Pericak-Vance MA, Rosenfeld PJ, Paul
TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, Gorin MB. 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.
27. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin
MB. Susceptibility genes for age-related maculopathy on chromo-
some 10q26. Am J Hum Genet 2005; 77 (3): 389-407.
28. Allikmets R, Dean M. Bringing age-related macular degeneration
into focus. Nat Genet 2008; 40 (7): 820-1.
29. 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 age-related maculopathy:
AREDS and CHS cohorts and meta-analyses. Hum Mol Genet
2006; 15 (21): 3206-18.
30. Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Mei-
tinger T, Weber BH. Hypothetical LOC387715 is a second major
susceptibility gene for age-related macular degeneration, contrib-
uting independently of complement factor H to disease risk. Hum
Mol Genet 2005; 14 (21): 3227-36.
31. Ross RJ, Bojanowski CM, Wang JJ, Chew EY, Rochtchina E, Fer-
ris FL 3rd, Mitchell P, Chan CC, Tuo J. The LOC387715 poly-
morphism and age-related macular degeneration: replication in
three case-control samples. Invest Ophthalmol Vis Sci 2007; 48
(3): 1128-32.
32. Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna
R, He S, Lyons R, Abecasis GR, Swaroop A. A variant of mito-
chondrial protein LOC387715/ARMS2, not HTRA1, is strongly
associated with age-related macular degeneration. Proc Natl Acad
Sci U S A. 2007; 104 (41): 16227-32.
33. Wang JJ, Ross RJ, Tuo J, Burlutsky G, Tan AG, Chan CC, Faval-
oro EJ, Williams A, Mitchell P. The LOC387715 polymorphism,
inflammatory markers, smoking, and age-related macular degen-
eration. A population-based case-control study. Ophthalmology
2008; 115 (4): 693-9.
34. 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, Bern-
stein 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 (5801): 992-3.
35. 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 age-related macular
degeneration. Science 2006; 314 (5801): 989-92.
36. Oka C, Tsujimoto R, Kajikawa M, Koshiba-Takeuchi K, Ina J,
Yano M, Tsuchiya A, Ueta Y, Soma A, Kanda H, Matsumoto M,
Kawaichi M. HtrA1 serine protease inhibits signaling mediated by
Tgfbeta family proteins. Development 2004; 131 (5): 1041-53.
37. Launay S, Maubert E, Lebeurrier N, Tennstaedt A, Campioni M,
Docagne F, Gabriel C, Dauphinot L, Potier MC, Ehrmann M,
Baldi A, Vivien D. HtrA1-dependent proteolysis of TGF-beta
controls both neuronal maturation and developmental survival.
Cell Death Differ 2008; 15 (9): 1408-16.
38. Cameron DJ, Yang Z, Gibbs D, Chen H, Kaminoh Y, Jorgensen
A, Zeng J, Luo L, Brinton E, Brinton G, Brand JM, Bernstein PS,
Zabriskie NA, Tang S, Constantine R, Tong Z, Zhang K. HTRA1
variant confers similar risks to geographic atrophy and neovascular
age-related macular degeneration. Cell Cycle 2007; 6 (9): 1122-5.
39. Mori K, Horie-Inoue K, Kohda M, Kawasaki I, Gehlbach PL,
Awata T, Yoneya S, Okazaki Y, Inoue S. Association of the HTRA1
gene variant with age-related macular degeneration in the Japanese
population. J Hum Genet 2007; 52(7): 636-41.
40. Tam PO, Ng TK, Liu DT, Chan WM, Chiang SW, Chen LJ, De-
Wan A, Hoh J, Lam DS, Pang CP. HTRA1 variants in exudative
age-related macular degeneration and interactions with smoking
and CFH. Invest Ophthalmol Vis Sci 2008; 49 (6): 2357-65.
41. Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Swee-
ney MO, Capone A Jr, Miller JW, Dryja TP, Ott J, Kim IK. Alleles
in the HtrA serine peptidase 1 gene alter the risk of neovascular
age-related macular degeneration. Ophthalmology 2008; 115 (7):
1209-1215.e7.
42. Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keil-
hauer CN, Weber BH. Age-related macular degeneration is associ-
ated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet
2008; 40 (7): 892-6.
43. Barreau C, Paillard L, Osborne HB. AU-rich elements and associ-
ated factors: are there unifying principles? Nucleic Acids Res 2006;
33 (22): 7138-50.
44. Garneau NL, Wilusz J, Wilusz CJ. The highways and byways of
mRNA decay. Nat Rev Mol Cell Biol 2007; 8 (2): 113-26.
45. Khabar KS. The AU-rich transcriptome: more than interferons
and cytokines, and its role in disease. J Interferon Cytokine Res
2005; 25 (1): 1-10.
46. Ding X, Patel M, Chan CC. Molecular pathology of age-related
macular degeneration. Prog Retin Eye Res 2009; 28 (1): 1-18.
47. Schmidt S, Klaver C, Saunders A, Postel E, De La PM, Agarwal
A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C,
Domurath R, Hogan M, Mah T et al. A pooled case-control study
of the apolipoprotein E (APOE) gene in age-related maculopathy.
Ophthalmic Genet 2002; 23 (4): 209-223.
48. Baird PN, Richardson AJ, Robman LD, Dimitrov PN, Tikellis
G, McCarty CA, Guymer RH. Apolipoprotein (APOE) gene is
associated with progression of age-related macular degeneration
(AMD). Hum Mutat 2006; 27 (4): 337-342.
Genetics of AMD
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