Association of genetic variants on 8p21 and 4q12 with age-related macular degeneration in Asian populations

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 10, 2012, Pages 6576-6581

  Nakata, Isao ^a   Yamashiro, Kenji ^a   Akagi Kurashige, Yumiko ^a   Miyake, Masahiro ^a   Kumagai, Kyoko ^a   Tsujikawa, Akitaka ^a   Liu, Ke ^b   Chen, Li Jia ^b   Liu, David T L ^b   Lai, Timothy Y Y ^b   Sakurada, Yoichi ^c   Yoneyama, Seigo ^c   Cheng, Ching Yu ^d,e,f,g   Cackett, Peter ^d   Yeo, Ian Y ^d   Tay, Wan Ting ^d   Cornes, Belinda K ^d   Vithana, Eranga N ^d,e   Aung, Tin ^d,e   Matsuo, Keitaro ^h   Matsuda, Fumihiko ^a   Wong, Tien Yin ^d,e,i   Iijima, Hiroyuki ^c   Pang, Chi Pui ^b   Yoshimura, Nagahisa ^a   more..

^a KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c UNIVERSITY OF YAMANASHI   (Japan)

^d SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^e NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^f NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^g DUKE NUS MEDICAL SCHOOL   (Singapore)

^h AICHI CANCER CENTER HOSPITAL   (Japan)

ⁱ UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AGE; AGED; ARTICLE; ASIAN; CASE CONTROL STUDY; CHOROIDAL NEOVASCULAR MEMBRANE VASCULOPATHY; CHROMOSOME 4Q; CHROMOSOME 8P; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HONG KONG; HUMAN; MAJOR CLINICAL STUDY; MALE; META ANALYSIS; POLYPOIDAL CHOROIDAL VASCULOPATHY; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RISK; SINGAPORE; SINGLE NUCLEOTIDE POLYMORPHISM; VASCULAR DISEASE; ADULT; CHOROID DISEASE; CHROMOSOME 4; CHROMOSOME 8; GENETICS; JAPAN; MIDDLE AGED; POLYP; REAL TIME POLYMERASE CHAIN REACTION; RISK FACTOR; SUBRETINAL NEOVASCULARIZATION;

ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHOROID DISEASES; CHOROIDAL NEOVASCULARIZATION; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; GENOTYPE; HUMANS; JAPAN; MACULAR DEGENERATION; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYPS; REAL-TIME POLYMERASE CHAIN REACTION; RISK FACTORS;

EID: 84871877464     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-10219     Document Type: Article

References (40)

1. de Jong PT. Age-related macular degeneration. N Engl J Med. 2006;355:1474-1485.
2. 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.
3. Rivera A, Fisher SA, Fritsche LG, et al. Hypothetical LOC387715 is a second major susceptibility gene for agerelated macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005; 14:3227-3236.
4. Edwards AO, Ritter R, 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and agerelated macular degeneration. Science. 2005;308:421-424.
5. 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 U S A. 2005;102:7227-7232.
6. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421.
7. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389.
8. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006;38:458-462.
9. Baird PN, Robman LD, Richardson AJ, et al. Gene-environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection. Hum Mol Genet. 2008;17: 1299-1305.
10. Seitsonen SP, Onkamo P, Peng G, et al. 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.
11. Anderson DH, Radeke MJ, Gallo NB, et al. 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.
12. Rohrer B, Long Q, Coughlin B, et al. A targeted inhibitor of the alternative complement pathway reduces angiogenesis in a mouse model of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2009;50:3056-3064.
13. Smailhodzic D, Klaver CC, Klevering BJ, et al. Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration. Ophthalmology. 2012;119:339-346.
14. Kawasaki R, Yasuda M, Song SJ, et al. The prevalence of agerelated macular degeneration in Asians: a systematic review and meta-analysis. Ophthalmology. 2010;117:921-927.
15. Lavanya R, Jeganathan VS, Zheng Y, et al. Methodology of the Singapore Indian Chinese Cohort (SICC) eye study: quantifying ethnic variations in the epidemiology of eye diseases in Asians. Ophthalmic Epidemiol. 2009;16:325-336.
16. Laude A, Cackett PD, Vithana EN, et al. Polypoidal choroidal vasculopathy and neovascular age-related macular degeneration: same or different disease? Prog Retin Eye Res. 2010;29: 19-29.
17. Mori K, Horie-Inoue K, Gehlbach PL, et al. Phenotype and genotype characteristics of age-related macular degeneration in a Japanese population. Ophthalmology. 2010;117:928-938.
18. Gotoh N, Nakanishi H, Hayashi H, et al. ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy. Am J Ophthalmol. 2009;147:1037-1041. 1041 e1031-1032.
19. Nakata I, Yamashiro K, Yamada R, et al. Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population. Invest Ophthalmol Vis Sci. 2012;53:794-798.
20. Hayashi H, Yamashiro K, Gotoh N, et al. CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. Invest Ophthalmol Vis Sci. 2010;51:5914-5919.
21. Spaide RF, Yannuzzi LA, Slakter JS, Sorenson J, Orlach DA. Indocyanine green videoangiography of idiopathic polypoidal choroidal vasculopathy. Retina. 1995;15:100-110.
22. 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.
23. Ciardella AP, Donsoff IM, Huang SJ, Costa DL, Yannuzzi LA. Polypoidal choroidal vasculopathy. Surv Ophthalmol. 2004; 49:25-37.
24. Liu Y, Wen F, Huang S, et al. Subtype lesions of neovascular age-related macular degeneration in Chinese patients. Graefes Arch Clin Exp Ophthalmol. 2007;245:1441-1445.
25. 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.
26. Terasaki H, Miyake Y, Suzuki T, Nakamura M, Nagasaka T. Polypoidal choroidal vasculopathy treated with macular translocation: clinical pathological correlation. Br J Ophthalmol. 2002;86:321-327.
27. Arakawa S, Takahashi A, Ashikawa K, et al. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nat Genet. 2011;43:1001-1004.
28. Bird AC, Bressler NM, Bressler SB, et al. An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol. 1995;39: 367-374.
29. Japanese Study Group of Polypoidal Choroidal Vasculopathy. Criteria for diagnosis of polypoidal choroidal vasculopathy [in Japanese]. Nippon Ganka Gakkai Zasshi. 2005;109:417-427.
30. Miyagishima T, Gushima H, Sumino Y. Research on pharmacokinetics related genetic polymorphism among Japanese population (Pharma SNP Consortium: PCS). Xenobiotic Metabolism and Disposition. 2001;16:340-345.
31. Hamajima N, Matsuo K, Saito T, et al. Gene-environment interactions and polymorphism studies of cancer risk in the hospital-based epidemiologic research program at Aichi cancer center II (HERPACC-II). Asian Pac J Cancer Prev. 2001;2:99-107.
32. Hirakawa M, Tanaka T, Hashimoto Y, Kuroda M, Takagi T, Nakamura Y. JSNP: a database of common gene variations in the Japanese population. Nucleic Acids Res. 2002;30:158-162.
33. Cackett P, Yeo I, Cheung CM, et al. Relationship of smoking and cardiovascular risk factors with polypoidal choroidal vasculopathy and age-related macular degeneration in Chinese persons. Ophthalmology. 2011;118:846-852.
34. Cheung CY, Chen D, Wong TY, et al. Determinants of quantitative optic nerve measurements using spectral domain optical coherence tomography in a population-based sample of non-glaucomatous subjects. Invest Ophthalmol Vis Sci. 2011;52:9629-9635.
35. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient metaanalysis of genomewide association scans. Bioinformatics. 2010;26:2190-2191.
36. Gauderman WJ. Sample size requirements for matched casecontrol studies of gene-environment interaction. Statistics in Medicine. 2002;21:35-50.
37. 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;85:1153-1157.
38. Kawasaki A, Ito I, Hikami K, et al. Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region. Arthritis Res Ther. 2008;10:R113.
39. Parihar A, Parihar MS, Chen Z. Ghafourifar P. mAtNOS1 induces apoptosis of human mammary adenocarcinoma cells. Life Sci. 2008;82:1077-1082.
40. Johnstone RW, Frew AJ, Smyth MJ. The TRAIL apoptotic pathway in cancer onset, progression and therapy. Nat Rev Cancer. 2008;8:782-798.