Featured distribution of AMD-susceptibility SNPs between ethnicities and the modifying effect of SNPs on AMD therapy

Expert Review of Ophthalmology

Volumn 4, Issue 4, 2009, Pages 377-386

  Guan, Huaijin ^a   Yang, Xiaozhao ^a   Hu, Jiangyan ^a   Lu, Hong ^a   Tuo, Jingsheng ^a  

^a NANTONG UNIVERSITY   (China)

Author keywords

Age related macular degeneration; Ethnically specific risk; Han Chinese; Pharmacogenomics; Single nucleotide polymorphism

Indexed keywords

ALPHA TOCOPHEROL; ANTIOXIDANT; ASCORBIC ACID; BETA CAROTENE; BEVACIZUMAB; CHEMOKINE RECEPTOR CX3CR1; COMPLEMENT FACTOR H; GENE PRODUCT; MELANIN; PROTEIN ARMS 2; PROTEIN HTRA 1; SERINE PROTEINASE; SMALL INTERFERING RNA; TOLL LIKE RECEPTOR; TOLL LIKE RECEPTOR 3; UNCLASSIFIED DRUG; VASCULOTROPIN INHIBITOR; ZINC;

ALLELE; ARTICLE; ASIAN; CAUCASIAN; CHINESE; COMBINATION CHEMOTHERAPY; COMPLEMENT SYSTEM; DRUG MEGADOSE; DRUG RESPONSE; ETHNICITY; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MICROGLIA; MONOTHERAPY; NONHUMAN; NUTRITION; OFF LABEL DRUG USE; PHOTOTHERAPY; RETINA; RETINA MACULA AGE RELATED DEGENERATION; RNA INTERFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY;

EID: 70049087731     PISSN: 17469899     EISSN: 17469902     Source Type: Journal    
DOI: 10.1586/eop.09.29     Document Type: Article

References (92)

1. Ambati J, Ambati BK, Yoo SH, Ianchulev S, Adamis AP. Age-related macular degeneration: etiology, pathogenesis, and therapeutic strategies. Surv. Ophthalmol. 48, 257-293 (2003).
2. Yuzawa M, Hagita K, Egawa T, Minato H, Matsui M. Macular lesions predisposing to senile disciform macular degeneration. Jpn. J. Ophthalmol. 35, 87-95 (1991).
3. Maruo T, Ikebukuro N, Kawanabe K, Kubota N. Changes in causes of visual handicaps in Tokyo. Jpn. J. Ophthalmol. 35, 268-272 (1991).
4. Xu L, Wang S, Wang YX, Wang YS, Jonas JB. Prevalence of Arterial hypertension in the adult population in rural and urban China: The Beijing Eye Study. Am. J. Hypertens 21, 1117-1123 (2008).
5. Tuo J, Bojanowski CM, Chan CC. Genetic factors of age-related macular degeneration. Prog. Retin. Eye Res. 23, 229-249 (2004).
6. Chang MA, Bressler SB, Munoz B, West SK. Racial differences and other risk factors for incidence and progression of age-related macular degeneration: Salisbury Eye Evaluation (SEE) Project. Invest. Ophthalmol. Vis. Sci. 49, 2395-2402 (2008).
7. Chang TS, Hay D, Courtright P. Agerelated macular degeneration in Chinese- Canadians. Can. J. Ophthalmol. 34, 266-271 (1999).
8. 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 106, 1049-1055 (1999).
9. Munoz B, Klein R, Rodriguez J, Snyder R, West SK. Prevalence of age-related macular degeneration in a population-based sampl of Hispanic people in Arizona: Proyecto VER. Arch. Ophthalmol. 123, 1575-1580 (2005).
10. Schachat AP, Hyman L, Leske MC, Connell AM, Wu SY. The Barbados Eye Study Group. Features of age-related macular degeneration in a black population. Arch. Ophthalmol. 113, 728-735 (1995).
11. Sommer A, Tielsch JM, Katz J et al. Racial differences in the cause-specific prevalence of blindness in east Baltimore. N. Engl. J. Med. 325, 1412-1417 (1991).
12. Andersen MV, Rosenberg T, la CM et al. Prevalence of age-related maculopathy and age-related macular degeneration among the inuit in Greenland. The Greenland Inuit Eye Study. Ophthalmology 115, 700-707 (2008).
13. Yang CS, Lin CL, Lee FL, Tsai SC, Chung YM, Liu JH. Digital indocyanine green angiography in chorioretinal diseases. Zhonghua Yi Xue Za Zhi (Taipei) 56, 411-417 (1995).
14. Chen SN, Liu KR, Tsai CB, Yang CH, Yang CM, Chen MS. Indocyanine green videoangiography of choroidal neovascular membrane in age-related macular degeneration. J. Formos. Med. Assoc. 92, 823-828 (1993).
15. Age-Related Eye Disease Study Research Group. Risk factors associated with age-related macular degeneration. A case-control study in the age-related eye disease study: age-related eye disease study report number 3. Ophthalmology 107, 2224-2232 (2000).
16. Yoshida A, Yoshida M, Yoshida S, Shiose S, Hiroishi G, Ishibashi T. Familial cases with age-related macular degeneration. Jpn. J. Ophthalmol. 44, 290-295 (2000).
17. Allikmets R, Shroyer NF, Singh N et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277, 1805-1807 (1997).
18. Majewski J, Schultz DW, Weleber RG et al. Age-related macular degeneration-a genome scan in extended families. Am. J. Hum. Genet. 73, 540-550 (2003).
19. 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. 116, 1082-1088 (1998).
20. 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. 132, 682-692 (2001).
21. Dewan A, Liu M, Hartman S et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314, 989-992 (2006).
22. 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. 77, 389-407 (2005).
23. Hageman GS, Anderson DH, Johnson LV et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc. Natl Acad. Sci. USA 102, 7227-7232 (2005).
24. Haines JL, Hauser MA, Schmidt S et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 308, 419-421 (2005).
25. Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science 308, 421-424 (2005).
26. Klein RJ, Zeiss C, Chew EY et al. Complement factor H polymorphism in age-related macular degeneration. Science 308, 385-389 (2005).
27. Yang Z, Camp NJ, Sun H et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 314, 992-993 (2006).
28. Cameron DJ, Yang Z, Tong Z et al. 10q26 is associated with increased risk of age-related macular degeneration in the Utah population. Adv. Exp. Med. Biol. 613, 253-258 (2008).
29. 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 115, 1019-1025 (2008).
30. Smith TC, Lee L. Age related macular degeneration - new developments in treatment. Aust. Fam. Physician 36, 359-361 (2007).
31. 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 22, 849-854 (2008).
32. Brantley MA Jr, Edelstein SL, King JM et al. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy. Eye 23, 626-631 (2008).
33. Seitsonen SP, Jarvela IE, Meri S, Tommila PV, Ranta PH, Immonen IJ. The effect of complement factor H Y402H polymorphism on the outcome of photodynamic therapy in age-related macular degeneration. Eur. J. Ophthalmol. 17, 943-949 (2007).
34. Parmeggiani F, Costagliola C, Gemmati D et al. Predictive role of coagulation-balance gene polymorphisms in the efficacy of photodynamic therapy with verteporfin for classic choroidal neovascularization secondary to age-related macular degeneration. Pharmacogenet. Genomics 17, 1039-1046 (2007).
35. Parmeggiani F, Costagliola C, Gemmati D et al. Coagulation gene predictors of photodynamic therapy for occult choroidal neovascularization in age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 49, 3100-3106 (2008).
36. Scott IU, Brown GC et al. Anti-vascular endothelial growth factor pharmacotherapy for age-related macular degeneration: a report by the American Academy of Ophthalmology. Ophthalmology 115, 1837-1846 (2008).
37. Alsenz J, Schulz TF, Lambris JD, Sim RB, Dierich MP. Structural and functional analysis of the complement component factor H with the use of different enzymes and monoclonal antibodies to factor H. Biochem. J. 232, 841-850 (1985).
38. Johnson LV, Leitner WP, Staples MK, Anderson DH. Complement activation and inflammatory processes in Drusen formation and age related macular degeneration. Exp. Eye Res. 73, 887-896 (2001).
39. Mandal MN, Ayyagari R. Complement factor H: spatial and temporal expression and localization in the eye. Invest. Ophthalmol. Vis. Sci. 47, 4091-4097 (2006).
40. 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. 77, 149-153 (2005).
41. Magnusson KP, Duan S, Sigurdsson H et al. CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med. 3, 5-7 (2006).
42. 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. 14, 1991-2002 (2005).
43. 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. 61, 157-165 (2006).
44. Sepp T, Khan JC, Thurlby DA et al. Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest. Ophthalmol. Vis. Sci. 47, 536-540 (2006).
45. Schaumberg DA, Christen WG, Kozlowski P, Miller DT, Ridker PM, Zee RY. A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 47, 2336-2340 (2006).
46. Souied EH, Leveziel N, Richard F et al. Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol. Vis. 11, 1135-1140 (2005).
47. 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. 38, 1049-1054 (2006).
48. Fisher SA, Rivera A, Fritsche LG, Babadjanova G, Petrov S, Weber BH. Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate. Br. J. Ophthalmol. 91, 576-578 (2007).
49. Xu Y, Guan N, Xu J et al. Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population. Mol. Vis. 14, 1373-1381 (2008).
50. Chen LJ, Liu DT, Tam PO et al. Association of complement factor H polymorphisms with exudative age-related macular degeneration. Mol. Vis. 12, 1536-1542 (2006).
51. 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. 48, 5315-5319 (2007).
52. 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. 49, 2071-2076 (2008).
53. Ng TK, Chen LJ, Liu DT et al. Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese. Invest. Ophthalmol. Vis. Sci. 49, 3312-3317 (2008).
54. Okamoto H, Umeda S, Obazawa M et al. Complement factor H polymorphisms in Japanese population with age-related macular degeneration. Mol. Vis. 12, 156-158 (2006).
55. Uka J, Tamura H, Kobayashi T et al. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population. Retina 26, 985-987 (2006).
56. Fuse N, Miyazawa A, Mengkegale M et al. Polymorphisms in complement factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration. Am. J. Ophthalmol. 142, 1074-1076 (2006).
57. Clausen T, Southan C, Ehrmann M. The HtrA family of proteases: implications for protein composition and cell fate. Mol. Cell 10, 443-455 (2002).
58. Tocharus J, Tsuchiya A, Kajikawa M, Ueta Y, Oka C, Kawaichi M. Developmentally regulated expression of mouse HtrA3 and its role as an inhibitor of TGF-β signaling. Dev. Growth Differ. 46, 257-274 (2004).
59. Ly DH, Lockhart DJ, Lerner RA, Schultz PG. Mitotic misregulation and human aging. Science 287, 2486-2492 (2000).
60. Grau S, Richards PJ, Kerr B et al. The role of human HtrA1 in arthritic disease. J. Biol. Chem. 281, 6124-6129 (2006).
61. Oka C, Tsujimoto R, Kajikawa M et al. HtrA1 serine protease inhibits signaling mediated by TGFβ family proteins. Development 131, 1041-1053 (2004).
62. Weger M, Renner W, Steinbrugger I et al. Association of the HTRA1 -625G>A promoter gene polymorphism with exudative age-related macular degeneration in a Central European population. Mol. Vis. 13, 1274-1279 (2007).
63. Chan CC, Shen D, Zhou M et al. Human HtrA1 in the archived eyes with age-related macular degeneration. Trans. Am. Ophthalmol. Soc. 105, 92-97 (2007).
64. Ross RJ, Bojanowski CM, Wang JJ et al. The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples. Invest. Ophthalmol. Vis. Sci. 48, 1128-1132 (2007).
65. Cameron DJ, Yang Z, Gibbs D et al. HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration. Cell Cycle 6, 1122-1125 (2007).
66. Tam PO, Ng TK, Liu DT et al. HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH. Invest. Ophthalmol. Vis. Sci. 49, 2357-2365 (2008).
67. 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. 52, 636-641 (2007).
68. Kaur I, Katta S, Hussain A et al. Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. Invest. Ophthalmol. Vis. Sci. 49, 1771-1776 (2008).
69. Yu J, Wiita P, Kawaguchi R et al. Biochemical analysis of a common human polymorphism associated with age-related macular degeneration. Biochemistry 46, 8451-8461 (2007).
70. 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. 78, 852-864 (2006).
71. 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. 14, 3227-3236 (2005).
72. Neuner B, Wellmann J, Dasch B et al. LOC387715, smoking and their prognostic impact on visual functional status in age-related macular degeneration - The Muenster Aging and Retina Study (MARS) cohort. Ophthalmic Epidemiol 15, 148-154 (2008).
73. 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 104, 16227-16232 (2007).
74. 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. 63, 212-218 (2007).
75. Francis PJ, Zhang H, Dewan A, Hoh J, Klein ML. Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population. Mol. Vis. 14, 1395-1400 (2008).
76. Tanimoto S, Tamura H, Ue T et al. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population. Neurosci. Lett. 414, 71-74 (2007).
77. Poltorak A, He X, Smirnova I et al. Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 282, 2085-2088 (1998).
78. Diebold SS, Kaisho T, Hemmi H, Akira S, Reis e Sousa LC. Innate antiviral responses by means of TLR7-mediated recognition of single-stranded RNA. Science 303, 1529-1531 (2004).
79. Alexopoulou L, Holt AC, Medzhitov R, Flavell RA. Recognition of double-stranded RNA and activation of NF-κB by Toll-like receptor 3. Nature 413, 732-738 (2001).
80. Ebihara N, Chen L, Tokura T, Ushio H, Iwatsu M, Murakami A. Distinct functions between Toll-like receptors 3 and 9 in retinal pigment epithelial cells. Ophthalmic Res. 39, 155-163 (2007).
81. Yang Z, Stratton C, Francis PJ et al. Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N. Engl. J. Med. 359, 1456-1463 (2008).
82. Edwards AO, Chen D, Fridley BL et al. Toll-like receptor polymorphisms and age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 49, 1652-1659 (2008).
83. Combadiere C, Feumi C, Raoul W et al. CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration. J. Clin Invest. 117, 2920-2928 (2007).
84. Tuo J, Smith BC, Bojanowski CM et al. The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. FASEB J. 18, 1297-1299 (2004).
85. Age-Related Eye Disease Study Research Group. A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, β carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8. Arch. Ophthalmol. 119, 1417-1436 (2001).
86. Blom AM, Kask L, Ramesh B, Hillarp A. Effects of zinc on factor I cofactor activity of C4b-binding protein and factor H. Arch. Biochem. Biophys 418, 108-118 (2003).
87. 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 114, 2168-2173 (2007).
88. 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 93(5), 610-613 (2009).
89. Sledz CA, Williams BR. RNA interference and double-stranded-RNA-activated pathways. Biochem. Soc. Trans. 32, 952-956 (2004).
90. Reich SJ, Fosnot J, Kuroki A et al. Small interfering RNA (siRNA) targeting VEGF effectively inhibits ocular neovascularization in a mouse model. Mol. Vis. 9, 210-216 (2003).
91. Cashman SM, Bowman L, Christofferson J, Kumar-Singh R. Inhibition of choroidal neovascularization by adenovirus-mediated delivery of short hairpin RNAs targeting VEGF as a potential therapy for AMD. Invest. Ophthalmol. Vis. Sci. 47, 3496-3504 (2006).
92. Kleinman ME, Yamada K, Takeda A et al. Sequence- and target-independent angiogenesis suppression by siRNA via TLR3. Nature 452, 591-597 (2008).