Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy

Molecular Vision

Volumn 15, Issue , 2009, Pages 1107-1114

  Bessho, Hiroaki ^a   Kondo, Naoshi ^a   Honda, Shigeru ^a   Kuno, Shin Ichi ^a,b   Negi, Akira ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b FOUNDATION FOR BIOMEDICAL RESEARCH AND INNOVATION   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; THREONINE;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC MODEL; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; NEOVASCULAR AGE RELATED MACULAR DEGENERATION; PIGMENT EPITHELIUM DERIVED FACTOR GENE; POLYPOIDAL CHOROIDAL VASCULOPATHY; POPULATION STRUCTURE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; VALIDATION STUDY;

AGED; AGED, 80 AND OVER; CHINA; CHOROID; CHOROID DISEASES; DATA INTERPRETATION, STATISTICAL; EYE PROTEINS; FEMALE; HUMANS; JAPAN; LINKAGE DISEQUILIBRIUM; MACULAR DEGENERATION; MALE; MIDDLE AGED; MODELS, GENETIC; MUTATION; NERVE GROWTH FACTORS; POLYPLOIDY; REPRODUCIBILITY OF RESULTS; SERPINS;

EID: 66849119011     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (62)

1. Friedman DS, O'Colmain BJ, Munoz B, Tomany SC, McCarty C, de Jong PT, Nemesure B, Mitchell P, Kempen J, Eye Diseases Prevalence Research Group. Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol 2004; 122:564-72.
2. Jager RD, Mieler WF, Miller JW. Age-related macular degeneration. N Engl J Med 2008; 358:2606-17.
3. Ciardella AP, Donsoff IM, Huang SJ, Costa DL, Yannuzzi LA. Polypoidal choroidal vasculopathy. Surv Ophthalmol 2004; 49:25-37.
4. Yannuzzi LA, Sorenson J, Spaide RF, Lipson B. Idiopathic polypoidal choroidal vasculopathy (IPCV). Retina 1990; 10:1-8.
5. Yannuzzi LA, Wong DW, Sforzolini BS, Goldbaum M, Tang KC, Spaide RF, Freund KB, Slakter JS, Guyer DR, Sorenson JA, Fisher Y, Maberley D, Orlock DA. Polypoidal choroidal vasculopathy and neovascularized age-related macular degeneration. Arch Ophthalmol 1999; 117:1503-10.
6. Takahashi K, Ishibashi T, Ogur Y, Yuzawa M. Working Group for Establishing Diagnostic Criteria for Age-Related Macular Degeneration. Classification and diagnostic criteria of age-related macular degeneration. Nippon Ganka Gakkai Zasshi 2008; 112:1076-84.
7. Maruko I, Iida T, Saito M, Nagayama D, Saito K. Clinical characteristics of exudative age-related macular degeneration in Japanese patients. Am J Ophthalmol 2007; 144:15-22.
8. Kikuchi M, Nakamura M, Ishikawa K, Suzuki T, Nishihara H, Yamakoshi T, Nishio K, Taki K, Niwa T, Hamajima N, Terasaki H. Elevated C-reactive protein levels in patients with polypoidal choroidal vasculopathy and patients with neovascular age-related macular degeneration. Ophthalmology 2007; 114:1722-7.
9. Terasaki H, Miyake Y, Suzuki T, Nakamura M, Nagasaka T. Polypoidal choroidal vasculopathy treated with macular translocation: clinical pathological correlation. Br J Ophthalmol 2002; 86:321-7.
10. Tong JP, Chan WM, Liu DT, Lai TY, Choy KW, Pang CP, Lam DS. Aqueous humor levels of vascular endothelial growth factor and pigment epithelium-derived factor in polypoidal choroidal vasculopathy and choroidal neovascularization. Am J Ophthalmol 2006; 141:456-62.
11. Nakajima M, Yuzawa M, Shimada H, Mori R. Correlation between indocyanine green angiographic findings and histopathology of polypoidal choroidal vasculopathy. Jpn J Ophthalmol 2004; 48:249-55.
12. Nakashizuka H, Mitsumata M, Okisaka S, Shimada H, Kawamura A, Mori R, Yuzawa M. Clinicopathologic findings in polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci 2008; 49:4729-37.
13. Gomi F, Sawa M, Sakaguchi H, Tsujikawa M, Oshima Y, Kamei M, Tano Y. Efficacy of intravitreal bevacizumab for polypoidal choroidal vasculopathy. Br J Ophthalmol 2008; 92:70-3.
14. Silva RM, Figueira J, Cachulo ML, Duarte L, Faria de Abreu JR, Cunha-Vaz JG. Polypoidal choroidal vasculopathy and photodynamic therapy with verteporfin. Graefes Arch Clin Exp Ophthalmol 2005; 243:973-9.
15. Yuzawa M, Mori R, Kawamura A. The origins of polypoidal choroidal vasculopathy. Br J Ophthalmol 2005; 89:602-7.
16. Liu Y, Wen F, Huang S, Luo G, Yan H, Sun Z, Wu D. Subtype lesions of neovascular age-related macular degeneration in Chinese patients. Graefes Arch Clin Exp Ophthalmol 2007; 245:1441-5.
17. Klein R, Klein BE, Linton KL. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology 1992; 99:933-43.
18. Mitchell P, Smith W, Attebo K, Wang JJ. Prevalence of agerelated maculopathy in Australia. The Blue Mountains Eye Study. Ophthalmology 1995; 102:1450-60.
19. Oshima Y, Ishibashi T, Murata T, Tahara Y, Kiyohara Y, Kubota T. Prevalence of age related maculopathy in a representative Japanese population: the Hisayama study. Br J Ophthalmol 2001; 85:1153-7.
20. Haddad S, Chen CA, Santangelo SL, Seddon JM. The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol 2006; 51:316-63.
21. Scholl HP, Fleckenstein M, Charbel Issa P, Keilhauer C, Holz FG, Weber BH. An update on the genetics of age-related macular degeneration. Mol Vis 2007; 13:196-205.
22. Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and agerelated macular degeneration. Science 2005; 308:421-4.
23. 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 agerelated macular degeneration. Science 2005; 308:419-21.
24. 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; 308:385-9.
25. Magnusson KP, Duan S, Sigurdsson H, Petursson H, Yang Z, Zhao Y, Bernstein PS, Ge J, Jonasson F, Stefansson E, Helgadottir G, Zabriskie NA, Jonsson T, Björnsson A, Thorlacius T, Jonsson PV, Thorleifsson G, Kong A, Stefansson H, Zhang K, Stefansson K, Gulcher JR. CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med 2006; 3:e5.
26. Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly MJ, Seddon JM. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of agerelated macular degeneration. Nat Genet 2006; 38:1055-9.
27. 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; 6:1122-5.
28. 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; 40:892-6.
29. 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; 314:989-92.
30. 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; 314:992-3.
31. Kondo N, Honda S, Ishibashi K, Tsukahara Y, Negi A. LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population. Am J Ophthalmol 2007; 144:608-12.
32. 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; 116:304-10.
33. Kondo N, Honda S, Ishibashi K, Tsukahara Y, Negi A. Elastin gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci 2008; 49:1101-5.
34. Yang Z, Stratton C, Francis PJ, Kleinman ME, Tan PL, Gibbs D, Tong Z, Chen H, Constantine R, Yang X, Chen Y, Zeng J, Davey L, Ma X, Hau VS, Wang C, Harmon J, Buehler J, Pearson E, Patel S, Kaminoh Y, Watkins S, Luo L, Zabriskie NA, Bernstein PS, Cho W, Schwager A, Hinton DR, Klein ML, Hamon SC, Simmons E, Yu B, Campochiaro B, Sunness JS, Campochiaro P, Jorde L, Parmigiani G, Zack DJ, Katsanis N, Ambati J, Zhang K. Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med 2008; 359:1456-63.
35. 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:R174-82.
36. Lin JM, Wan L, Tsai YY, Lin HJ, Tsai Y, Lee CC, Tsai CH, Tseng SH, Tsai FJ. Pigment epithelium-derived factor gene Met72Thr polymorphism is associated with increased risk of wet age-related macular degeneration. Am J Ophthalmol 2008; 145:716-21.
37. Zarbin MA. Current concepts in the pathogenesis of age-related macular degeneration. Arch Ophthalmol 2004; 122:598-614.
38. Mattes D, Haas A, Renner W, Steinbrugger I, El-Shabrawi Y, Wedrich A, Werner C, Schmut O, Weger M. Analysis of three pigment epithelium-derived factor gene polymorphisms in patients with exudative age-related macular degeneration. Mol Vis 2009; 15:343-8.
39. Edwards AO, Chen D, Fridley BL, James KM, Wu Y, Abecasis G, Swaroop A, Othman M, Branham K, Iyengar SK, Sivakumaran TA, Klein R, Klein BE, Tosakulwong N. Tolllike receptor polymorphisms and age-related macular degeneration. Invest Ophthalmol Vis Sci 2008; 49:1652-9.
40. 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; 116:304-10.
41. Seddon JM, Sharma S, Adelman RA. Evaluation of the clinical age-related maculopathy staging system. Ophthalmology 2006; 113:260-6.
42. Wigginton JE, Cutler DJ, Abecasis GR. A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 2005; 76:887-93.
43. Balding DJ. A tutorial on statistical methods for population association studies. Nat Rev Genet 2006; 7:781-91.
44. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81:559-75.
45. Gauderman WJ. Sample size requirements for matched casecontrol studies of gene-environment interaction. Stat Med 2002; 21:35-50.
46. The International HapMap Project. Nature 2003; 426:789-96.
47. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-5.
48. Marchini J, Cardon LR, Phillips MS, Donnelly P. The effects of human population structure on large genetic association studies. Nat Genet 2004; 36:512-7.
49. Falush D, Stephens M, Pritchard JK. Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics 2003; 164:1567-87.
50. Kubo M, Hata J, Ninomiya T, Matsuda K, Yonemoto K, Nakano T, Matsushita T, Yamazaki K, Ohnishi Y, Saito S, Kitazono T, Ibayashi S, Sueishi K, Iida M, Nakamura Y, Kiyohara Y. A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction. Nat Genet 2007; 39:212-7.
51. Yamada K, Gerber DJ, Iwayama Y, Ohnishi T, Ohba H, Toyota T, Aruga J, Minabe Y, Tonegawa S, Yoshikawa T. Genetic analysis of the calcineurin pathway identifies members of the EGR gene family, specifically EGR3, as potential susceptibility candidates in schizophrenia. Proc Natl Acad Sci USA 2007; 104:2815-20.
52. Pritchard JK, Stephens M, Donnelly P. Inference of population structure using multilocus genotype data. Genetics 2000; 155:945-59.
53. Karakousis PC, John SK, Behling KC, Surace EM, Smith JE, Hendrickson A, Tang WX, Bennett J, Milam AH. Localization of pigment epithelium derived factor (PEDF) in developing and adult human ocular tissues. Mol Vis 2001; 7:154-63.
54. Chader GJ. PEDF: Raising both hopes and questions in controlling angiogenesis. Proc Natl Acad Sci USA 2001; 98:2122-4.
55. Dawson DW, Volpert OV, Gillis P, Crawford SE, Xu H, Benedict W, Bouck NP. Pigment epithelium-derived factor: a potent inhibitor of angiogenesis. Science 1999; 285:245-8.
56. Holekamp NM, Bouck N, Volpert O. Pigment epitheliumderived factor is deficient in the vitreous of patients with choroidal neovascularization due to age-related macular degeneration. Am J Ophthalmol 2002; 134:220-7.
57. Bhutto IA, Uno K, Merges C, Zhang L, McLeod DS, Lutty GA. Reduction of endogenous angiogenesis inhibitors in Bruch's membrane of the submacular region in eyes with age-related macular degeneration. Arch Ophthalmol 2008; 126:670-8.
58. Mori K, Gehlbach P, Yamamoto S, Duh E, Zack DJ, Li Q, Berns KI, Raisler BJ, Hauswirth WW, Campochiaro PA. AAVmediated gene transfer of pigment epithelium-derived factor inhibits choroidal neovascularization. Invest Ophthalmol Vis Sci 2002; 43:1994-2000.
59. Mori K, Gehlbach P, Ando A, McVey D, Wei L, Campochiaro PA. Regression of ocular neovascularization in response to increased expression of pigment epithelium-derived factor. Invest Ophthalmol Vis Sci 2002; 43:2428-34.
60. Campochiaro PA, Nguyen QD, Shah SM, Klein ML, Holz E, Frank RN, Saperstein DA, Gupta A, Stout JT, Macko J, DiBartolomeo R, Wei LL. Adenoviral vector-delivered pigment epithelium-derived factor for neovascular agerelated macular degeneration: results of a phase I clinical trial. Hum Gene Ther 2006; 17:167-76.
61. Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet 2003; 361:865-72.
62. NCI-NHGRI Working Group on Replication in Association Studies, Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni JF Jr, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hoh J, Hoover R, Kong CA, Merikangas KR, Morton CC, Palmer LJ, Phimister EG, Rice JP, Roberts J, Rotimi C, Tucker MA, Vogan KJ, Wacholder S, Wijsman EM, Winn DM, Collins FS. Replicating genotype-phenotype associations. Nature 2007; 447:655-60.