Genetic associations in polypoidal choroidal vasculopathy: A systematic review and meta-analysis

Molecular Vision

Volumn 18, Issue , 2012, Pages 816-829

  Chen, Haoyu ^a   Liu, Ke ^a   Chen, Li Jia ^a   Hou, Ping ^a   Chen, Weiqi ^a   Pang, Chi Pui ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

C2 GENE; CFH GENE; CLINICAL FEATURE; EXUDATIVE MACULAR DEGENERATION; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DIFFERENCE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HTRA1 GENE; HUMAN; LOC387715 GENE; MEDICAL LITERATURE; MOLECULAR PATHOLOGY; POLYPOIDAL CHOROIDAL VASCULOPATHY; PRIORITY JOURNAL; PROMOTER REGION; RETINA MACULA AGE RELATED DEGENERATION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW; TREATMENT RESPONSE; VITREOUS HEMORRHAGE;

EID: 84859463748     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Review

References (49)

1. Yannuzzi LA, Sorenson J, Spaide RF, Lipson B. Idiopathic polypoidal choroidal vasculopathy (IPCV). Retina 1990; 10:1-8.
2. Spaide RF, Yannuzzi LA, Slakter JS, Sorenson J, Orlach DA. Indocyanine green videoangiography of idiopathic polypoidal choroidal vasculopathy. Retina 1995; 15:100-10.
3. 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.
4. 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.
5. 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.
6. 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 age-related macular degeneration. Proc Natl Acad Sci USA 2005; 102:7227-32.
7. Zareparsi S, Branham KE, Li M, Shah S, Klein RJ, Ott J, Hoh J, Abecasis GR, Swaroop A. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet 2005; 77:149-53.
8. 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.
9. 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.
10. 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; 14:3227-36.
11. 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.
12. Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT, 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; 38:458-62.
13. 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; 39:1200-1.
14. Ennis S, Jomary C, Mullins R, Cree A, Chen X, Macleod A, Jones S, Collins A, Stone E, Lotery A. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. Lancet 2008; 372:1828-34.
15. 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; 138:567-73.
16. 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.
17. 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.
18. Sakurada Y, Kubota T, Imasawa M, Mabuchi F, Tanabe N, Iijima H. Association of LOC387715 A69S genotype with visual prognosis after photodynamic therapy for polypoidal choroidal vasculopathy. Retina 2010; 30:1616-21.
19. Lima LH, Merriam JE, Freund KB, Barbazetto IA, Spaide RF, Yannuzzi LA, Allikmets R. Elastin rs2301995 polymorphism is not associated with polypoidal choroidal vasculopathy in caucasians. Ophthalmic Genet 2011; 32:80-2.
20. Yamashiro K, Mori K, Nakata I, Tsuchihashi T, Horie-Inoue K, Nakanishi H, Tsujikawa A, Saito M, Iida T, Yamada R, Matsuda F, Inoue S, Awata T, Yoneya S, Yoshimura N. Association of elastin gene polymorphism to age-related macular degeneration and polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci 2011; 52:8780-4.
21. 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.
22. Lima LH, Schubert C, Ferrara DC, Merriam JE, Imamura Y, Freund KB, Spaide RF, Yannuzzi LA, Allikmets R. Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy. Ophthalmology 2010; 117:1567-70.
23. Sakurada Y, Kubota T, Imasawa M, Mabuchi F, Tateno Y, Tanabe N, Iijima H. Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy. Ophthalmology 2011; 118:1402-7.
24. Gotoh N, Nakanishi H, Hayashi H, Yamada R, Otani A, Tsujikawa A, Yamashiro K, Tamura H, Saito M, Saito K, Iida T, Matsuda F, Yoshimura N. ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy. Am J Ophthalmol 2009; 147:1037-41.
25. Gotoh N, Yamashiro K, Nakanishi H, Saito M, Iida T, Yoshimura N. Haplotype analysis of the ARMS2/HTRA1 region in Japanese patients with typical neovascular agerelated macular degeneration or polypoidal choroidal vasculopathy. Jpn J Ophthalmol 2010; 54:609-14.
26. 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; 51:6183-7.
27. 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; 51:5914-9.
28. Fuse N, Mengkegale M, Miyazawa A, Abe T, Nakazawa T, Wakusawa R, Nishida K. Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with agerelated macular degeneration. Am J Ophthalmol 2011; 151:550-6.
29. 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; 2:164-75.
30. Sakurada Y, Kubota T, Mabuchi F, Imasawa M, Tanabe N, Iijima H. Association of LOC387715 A69S with vitreous hemorrhage in polypoidal choroidal vasculopathy. Am J Ophthalmol 2008; 145:1058-62.
31. Tanaka K, Nakayama T, Mori R, Sato N, Kawamura A, Mizutani Y, Yuzawa M. Associations of Complement Factor H (CFH) and Age-Related Maculopathy Susceptibility 2 (ARMS2) Genotypes with Subtypes of Polypoidal Choroidal Vasculopathy. Invest Ophthalmol Vis Sci 2011; 52:7441-4.
32. 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; 49:2613-9.
33. Park DH, Kim IT. Association of ARMS2/HTRA1 variants with polypoidal choroidal vasculopathy phenotype in a Korean population. Jpn J Ophthalmol 2012; 56:60-7.
34. Bessho H, Honda S, Kondo N, Negi A. The association of agerelated maculopathy susceptibility 2 polymorphisms with phenotype in typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Mol Vis 2011; 17:977-82.
35. Gotoh N, Yamada R, Nakanishi H, Saito M, Iida T, Matsuda F, Yoshimura N. 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; 36:437-42.
36. Li M, Wen F, Zuo C, Zhang X, Chen H, Huang S, Luo G. SERPING1 polymorphisms in polypoidal choroidal vasculopathy. Mol Vis 2010; 16:231-9.
37. Nakata I, Yamashiro K, Yamada R, Gotoh N, Nakanishi H, Hayashi H, Tsujikawa A, Otani A, Saito M, Iida T, Oishi A, Matsuo K, Tajima K, Matsuda F, Yoshimura N. Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese. PLoS ONE 2011; 6:e19108.
38. Bessho H, Kondo N, Honda S, Kuno S, Negi A. Coding variant Met72Thr in the PEDF gene and risk of neovascular agerelated macular degeneration and polypoidal choroidal vasculopathy. Mol Vis 2009; 15:1107-14.
39. Wu K, Wen F, Zuo C, Li M, Zhang X, Chen H, Zeng R. Lack of association with PEDF Met72Thr variant in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Han Chinese population. Curr Eye Res 2012; 37:68-72.
40. Kondo N, Bessho H, Honda S, Negi A. SOD2 gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Mol Vis 2009; 15:1819-26.
41. Sng CC, Cackett PD, Yeo IY, Thalamuthu A, Venkatraman A, Venkataraman D, Koh AH, Tai ES, Wong TY, Aung T, Vithana EN. Toll-like receptor 3 polymorphism rs3775291 is not associated with choroidal neovascularization or polypoidal choroidal vasculopathy in Chinese subjects. Ophthalmic Res 2011; 45:191-6.
42. Zhang X, Wen F, Zuo C, Li M, Chen H, Wu K. Association of genetic variation on chromosome 9p21 with polypoidal choroidal vasculopathy and neovascular age-related macular degeneration. Invest Ophthalmol Vis Sci 2011; 52:8063-7.
43. Park DH, Kim IT. Loc387715/Htra1 variants and the response to combined photodynamic therapy with intravitreal bevacizumab for polypoidal choroidal vasculopathy. Retina 2012; 32:299-307.
44. Sakurada Y, Kubota T, Imasawa M, Tsumura T, Mabuchi F, Tanabe N, Iijima H. Angiographic lesion size associated with LOC387715 A69S genotype in subfoveal polypoidal choroidal vasculopathy. Retina 2009; 29:1522-6.
45. Tsujikawa A, Ojima Y, Yamashiro K, Nakata I, Ooto S, Tamura H, Nakanishi H, Hayashi H, Otani A, Yoshimura N. Association of lesion size and visual prognosis to polypoidal choroidal vasculopathy. Am J Ophthalmol 2011; 151:961-72.
46. 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; 104:16227-32.
47. Jones A, Kumar S, Zhang N, Tong Z, Yang JH, Watt C, Anderson J, Amrita, Fillerup H, McCloskey M, Luo L, Yang Z, Ambati B, Marc R, Oka C, Zhang K, Fu Y. Increased expression of multifunctional serine protease, HTRA1, in retinal pigment epithelium induces polypoidal choroidal vasculopathy in mice. Proc Natl Acad Sci USA 2011; 108:14578-83.
48. Laude A, Cackett PD, Vithana EN, Yeo IY, Wong D, Koh AH, Wong TY, Aung T. Polypoidal choroidal vasculopathy and neovascular age-related macular degeneration: same or different disease? Prog Retin Eye Res 2010; 29:19-29.
49. Nakata I, Yamashiro K, Yamada R, Gotoh N, Nakanishi H, Hayashi H, Tsujikawa A, Otani A, Ooto S, Tamura H, Saito M, Saito K, Iida T, Oishi A, Kurimoto Y, Matsuda F, Yoshimura N. Genetic variants in pigment epitheliumderived factor influence response of polypoidal choroidal vasculopathy to photodynamic therapy. Ophthalmology 2011; 118:1408-15.