Association of ARMS2/HTRA1 variants with polypoidal choroidal vasculopathy phenotype in a Korean population
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To investigate whether ARMS2 (rs10490924)/HTRA1 (rs11200638) variants are associated with polypoidal choroidal vasculopathy (PCV) in a Korean population and with various PCV phenotypes.
A case–control study comprised of 103 patients with PCV and 112 control subjects. The PCV and control groups were genotyped for ARMS2 (rs10490924) and HTRA1 (rs11200638) polymorphisms. Clinical characteristics were evaluated, including best-corrected visual acuity (BCVA), fundus findings, and angiographic findings, at first visit.
Two single nucleotide polymorphisms generated highly significant allelic associations with PCV. The frequency of vitreous hemorrhage (VH) was different among the genotypes with respect to both rs10490924 and rs11200638. The frequency of the T allele of rs10490924 was higher in PCV patients with VH than in PCV patients without VH. The frequency of the A allele of rs11200638 was higher in PCV patients with VH than in PCV patients without VH. In rs10490924, the mean BCVA of the GG genotype group was better than that of the TT and TG genotype groups. In rs11200638, the mean BCVA of the GG genotype group was better than that of the AA and AG genotype groups.
The ARMS2 (rs10490924)/HTRA1 (rs11200638) variants are significantly associated with the risk of PCV in a Korean population. ARMS2/HTRA1 variants contribute significantly to the PCV phenotypes, including frequency of VH and mean BCVA at baseline.
- Yannuzzi LA, Sorenson J, Spaide RF, Lipson B. Idiopathic polypoidal choroidal vasculopathy (IPCV). Retina. 1990;10:1–8. CrossRef
- Yannuzzi LA, Ciardella A, Spaide RF, Rabb M, Freund KB, Orlock DA. The expanding clinical spectrum of idiopathic polypoidal choroidal vasculopathy. Arch Ophthalmol. 1997;115:478–85. CrossRef
- Byeon SH, Lee SC, Oh HS, Kim SS, Koh HJ, Kwon OW. Incidence and clinical patterns of polypoidal choroidal vasculopathy in Korean patients. Jpn J Ophthalmol. 2008;52:57–62. CrossRef
- 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. CrossRef
- Sho K, Takahashi K, Yamada H, Wada M, Nagai Y, Otsuji T, et al. Polypoidal choroidal vasculopathy: incidence, demographic features, and clinical characteristics. Arch Ophthalmol. 2003;121:1392–6. CrossRef
- Ciardella AP, Donsoff IM, Huang SJ, Costa DL, Yannuzzi LA. Polypoidal choroidal vasculopathy. Surv Ophthalmol. 2004;49:25–37. CrossRef
- Imaizumi H, Takeda M. Knobby-like choroidal neovascularization accompanied with retinal pigment epithelial detachment. Nippon Ganka Gakkai Zasshi. 1999;103:527–37.
- Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314:989–92. CrossRef
- Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, 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. 2005;14:3227–36. CrossRef
- 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.
- Tanimoto S, Tamura H, Ue T, Yamane K, Maruyama H, Kawakami H, et al. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population. Neurosci Lett. 2007;414:71–4. CrossRef
- Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314:992–3. CrossRef
- Yoshida T, DeWan A, Zhang H, Sakamoto R, Okamoto H, Minami M, et al. HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration. Mol Vis. 2007;13:545–8.
- 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. CrossRef
- Lee KY, Vithana EN, Mathur R, Yong VH, Yeo IY, Thalamuthu A, et al. 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. CrossRef
- Lima LH, Schubert C, Ferrara DC, Merriam JE, Imamura Y, Freund KB, et al. Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy. Ophthalmology. 2010;117:1567–70. CrossRef
- 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. 2007;114:2168–73. CrossRef
- Seddon JM, Francis PJ, George S, Schultz DW, Rosner B, Klein ML. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA. 2007;297:1793–800. CrossRef
- Shuler RK Jr, Schmidt S, Gallins P, Hauser MA, Scott WK, Caldwell J, et al. Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration. Am J Ophthalmol. 2008;145:303–7. CrossRef
- Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419–21. CrossRef
- Holladay JT. Proper method for calculating average visual acuity. J Refract Surg. 1997;13:388–91.
- Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263–5. CrossRef
- Whittemore AS. Estimating attributable risk from case–control studies. Am J Epidemiol. 1983;117:76–85.
- 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. CrossRef
- Gotoh N, Nakanishi H, Hayashi H, Yamada R, Otani A, Tsujikawa A, et al. ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy. Am J Ophthalmol. 2009;147:1037–41. CrossRef
- Goto A, Akahori M, Okamoto H, Minami M, Terauchi N, Haruhata Y, et al. 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. CrossRef
- Hayashi H, Yamashiro K, Gotoh N, Nakanishi H, Nakata I, Tsujikawa A, et al. CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. Invest Ophthalmol Vis Sci. 2010;51:5914–9. CrossRef
- Lee SJ, Kim NR, Chin HS. LOC387715/HTRA1 polymorphisms, smoking and combined effects on exudative age-related macular degeneration in a Korean population. Clin Exp Ophthalmol. 2010;38:698–704. CrossRef
- Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, et al. 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. CrossRef
- Pallen MJ, Wren BW. The HtrA family of serine proteases. Mol Microbiol. 1997;26:209–21. CrossRef
- Grau S, Richards PJ, Kerr B, Hughes C, Caterson B, Williams AS, et al. The role of human HtrA1 in arthritic disease. J Biol Chem. 2006;281:6124–9. CrossRef
- Odergren A, Ming Y, Kvanta A. Photodynamic therapy of experimental choroidal neovascularization in the mouse. Curr Eye Res. 2006;31:765–74. CrossRef
- Uyama M, Matsubara T, Fukushima I, Matsunaga H, Iwashita K, Nagai Y, et al. Idiopathic polypoidal choroidal vasculopathy in Japanese patients. Arch Ophthalmol. 1999;117:1035–42.
- Mori K, Horie-Inoue K, Gehlbach PL, Takita H, Kabasawa S, Kawasaki I, et al. Phenotype and genotype characteristics of age-related macular degeneration in a Japanese population. Ophthalmology. 2010;117:928–38. CrossRef
- Sakurada Y, Kubota T, Imasawa M, Tsumura T, Mabuchi F, Tanabe N, et al. Angiographic lesion size associated with LOC387715 A69S genotype in subfoveal polypoidal choroidal vasculopathy. Retina. 2009;29:1522–6. CrossRef
- Chowers I, Meir T, Lederman M, Goldenberg-Cohen N, Cohen Y, Banin E, et al. Sequence variants in HTRA1 and LOC387715/ARMS2 and phenotype and response to photodynamic therapy in neovascular age-related macular degeneration in populations from Israel. Mol Vis. 2008;14:2263–71.
- Association of ARMS2/HTRA1 variants with polypoidal choroidal vasculopathy phenotype in a Korean population
Japanese Journal of Ophthalmology
Volume 56, Issue 1 , pp 60-67
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- Polypoidal choroidal vasculopathy
- Single nucleotide polymorphism
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