The age-related maculopathy susceptibility 2 polymorphism and polypoidal choroidal vasculopathy: a systemic review and meta-analysis_Chinese Journal of Ocular Fundus Diseases

Authors：

LiuRan , YangYu , WeiChunyi , 李梓敬 ,  丁小燕

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China;

Corresponding author：

丁小燕, Email: dingxy75@gmail.com

Keywords：

Choroid diseases/etiology; Polymorphism, single nucleotide; Meta-analysis

DOI：

10.3760/cma.j.issn.1005-1015.2014.03.017

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Objective To investigate the relationship of the age-related maculopathy susceptibility 2 (ARMS2) A69S polymorphism and polypoidal choroidal vasculopathy (PCV), and to explore the distribution of risk allele in PCV and exudative age-related macular degeneration (wAMD). Methods This is a systemic review and meta-analysis. A literature research was performed in Pubmed, Embase, Web of Knowledge, Chinese national Knowledge Infrastructure and Wanfang Medicine Database by the key words of "ARMS2, LOC387715, A69S, rs10490924, age related macular degeneration, polypoidal choroidal vasculopathy, single nucleotide polymorphism". Case-control studies were included, while review, case report, or systemic reviews were excluded. The latest one of multiple articles was included only which published by the same group. The results of individual studies were pooled using the software Review Manager 5.1.4, and the correlation between allele frequencies, genotype and phenotype were analyzed. Results A total of 14 articles, consisting 2007 PCV patients, 1308 wAMD patients and 3286 controls were recruited. The pooled odds ratio (OR) in random-effects models for genotype TT versus wild homozygous genotype GG is 5.20 (95% CI: 3.90-6.95). Heterozygous genotype GT mildly increased the risk in affecting PCV, and the OR of GT versus GG is 1.85 (95% CI: 1.42-2.40. The frequency of T allele in wAMD was higher than in PCV, pool OR=1.60 (95% CI: 1.31-1.96). Conclusions The ARMS2 A69S variant is associated with PCV. Genotypes of TT and GT had an effect in increasing the risk of PCV, and the effect is even greater in genotype of TT. T allele had an effect in increasing the risk of PCV and wAMD, and the risk for wAMD is slightly greater than for PCV.

Citation： LiuRan, YangYu, WeiChunyi. The age-related maculopathy susceptibility 2 polymorphism and polypoidal choroidal vasculopathy: a systemic review and meta-analysis. Chinese Journal of Ocular Fundus Diseases, 2014, 30(3): 299-303. doi: 10.3760/cma.j.issn.1005-1015.2014.03.017 Copy

1.	Laude A, Cackett PD, Vithana EN, et al. Polypoidal choroidal vasculopathy and neovascular age-related macular degeneration: same or different disease?[J]. Prog Retin Eye Res,2010,29:19-29.
2.	Yannuzzi LA, Sorenson J, Spaide RF, et al. Idiopathic polypoidal choroidal vasculopathy (IPCV)[J]. Retina,1990,10:1-8.
3.	Bessho H, Honda S, Kondo N, et al. The association of age-related maculopathy susceptibility 2 polymorphisms with phenotype in typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy[J]. Mol Vis,2011,17:977-982.
4.	Cheng Y, Huang L, Li X, et al. Genetic and functional dissection of ARMS2 in age-related macular degeneration and polypoidal choroidal vasculopathy[J/OL]. PLoS One,2013,8:E53665[2014-01-31]. http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0053665.
5.	Fuse N, Mengkegale M, Miyazawa A, et al. Polymorphisms in ARMS2(LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration[J]. Am J Ophthalmol,2011,151:550-556.
6.	Goto A, Akahori M, Okamoto H, et al. Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population[J]. J Ocul Biol Dis Infor,2009,2:164-175.
7.	Hayashi H, Yamashiro K, Gotoh N, et al. CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation[J]. Invest Ophthalmol Vis Sci,2010,51:5914-5919.
8.	Kondo N, Honda S, Ishibashi K, et al. LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population[J]. Am J Ophthalmol,2007,144:608-612.
9.	Liang XY, Lai TY, Liu DT, et al. Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus[J]. Invest Ophthalmol Vis Sci,2012,53:3175-3182.
10.	Lima LH, Schubert C, Ferrara DC, et al. Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy[J]. Ophthalmology,2010,117:1567-1570.
11.	Chen H, Liu K, Chen LJ, et al. Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis[J]. Mol Vis,2012,18:816-829.
12.	Jiang JJ, Wu X, Zhou P, et al. Meta-analysis of the relationship between the LOC387715/ARMS2 polymorphism and polypoidal choroidal vasculopathy[J]. Genet Mol Res,2012,11:4256-4267.
13.	Yuan D, Yuan D, Yuan S, et al. The age-related maculopathy susceptibility 2 polymorphism and polypoidal choroidal vasculopathy in Asian populations: a meta-analysis[J]. Ophthalmology,2013,120:2051-2057.
14.	Wells GA, Shea B, O’Connell D, et al. The Newcastle-Ottawa Scale (NOS) for assessing the quality of nonrandomised studies in meta-analyses[EB/OL].[2014-01-31].http://www.ohri.ca/programs/clinical_epidemiology/oxford.asp.
15.	Lee KY, Vithana EN, Mathur R, et al. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy[J]. Invest Ophthalmol Vis Sci,2008,49:2613-2619.
16.	Sakurada Y, Kubota T, Mabuchi F, et al. Association of LOC387715 A69S with vitreous hemorrhage in polypoidal choroidal vasculopathy[J]. Am J Ophthalmol,2008,145:1058-1062.
17.	Park DH, Kim IT. Association of ARMS2/HTRA1 variants with polypoidal choroidal vasculopathy phenotype in a Korean population[J]. Jpn J Ophthalmol,2012,56:60-67.
18.	Tanaka K, Nakayama T, Mori R, et al. Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2(ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy[J]. Invest Ophthalmol Vis Sci,2011,52:7441-7444.
19.	Chantaren P, Ruamviboonsuk P, Ponglikitmongkol M, et al. Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations[J]. Clin Ophthalmol,2012,6:465-471.
20.	Miki A, Honda S, Kondo N, et al. The association of age-related maculopathy susceptibility 2(ARMS2) and complement factor H (CFH) variants with two angiographic subtypes of polypoidal choroidal vasculopathy[J]. Ophthalmic Genet,2013,34:146-150.
21.	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[J]. Hum Mol Genet,2005,14:3227-3236.
22.	刘冉,李加青,曾婧,等.渗出型老年性黄斑变性与息肉样脉络膜血管病变患者年龄、性别及发病眼别的比较[J].中华眼底病杂志,2012,28:445-448.
23.	Ciardella AP, Donsoff IM, Yannuzzi LA. Polypoidal choroidal vasculopathy[J]. Ophthalmol Clin North Am,2002,15:537-554.
24.	Gomi F, Ohji M, Sayanagi K, et al. One-year outcomes of photodynamic therapy in age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese patients[J]. Ophthalmology,2008,115:141-146.
25.	Honda S, Imai H, Yamashiro K, et al. Comparative assessment of photodynamic therapy for typical age-related macular degeneration and polypoidal choroidal vasculopathy: a multicenter study in Hyogo prefecture, Japan[J]. Ophthalmologica,2009,223:333-338.
26.	Hatz K, Prünte C. Polypoidal choroidal vasculopathy in Caucasian patients with presumed neovascular age-related macular degeneration and poor ranibizumab response[J]. Br J Ophthalmol, 2014,98:188-194.
27.	Matsumiya W, Honda S, Kusuhara S, et al. Effectiveness of intravitreal ranibizumab in exudative age-related macular degeneration (AMD): comparison between typical neovascular AMD and polypoidal choroidal vasculopathy over a 1 year follow-up[J/OL]. BMC Ophthalmol,2013,13:10[2014-01-31]. http://www.biomedcentral.com/1471-2415/13/10.

1. Laude A, Cackett PD, Vithana EN, et al. Polypoidal choroidal vasculopathy and neovascular age-related macular degeneration: same or different disease?[J]. Prog Retin Eye Res,2010,29:19-29.
2. Yannuzzi LA, Sorenson J, Spaide RF, et al. Idiopathic polypoidal choroidal vasculopathy (IPCV)[J]. Retina,1990,10:1-8.
3. Bessho H, Honda S, Kondo N, et al. The association of age-related maculopathy susceptibility 2 polymorphisms with phenotype in typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy[J]. Mol Vis,2011,17:977-982.
4. Cheng Y, Huang L, Li X, et al. Genetic and functional dissection of ARMS2 in age-related macular degeneration and polypoidal choroidal vasculopathy[J/OL]. PLoS One,2013,8:E53665[2014-01-31]. http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0053665.
5. Fuse N, Mengkegale M, Miyazawa A, et al. Polymorphisms in ARMS2(LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration[J]. Am J Ophthalmol,2011,151:550-556.
6. Goto A, Akahori M, Okamoto H, et al. Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population[J]. J Ocul Biol Dis Infor,2009,2:164-175.
7. Hayashi H, Yamashiro K, Gotoh N, et al. CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation[J]. Invest Ophthalmol Vis Sci,2010,51:5914-5919.
8. Kondo N, Honda S, Ishibashi K, et al. LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population[J]. Am J Ophthalmol,2007,144:608-612.
9. Liang XY, Lai TY, Liu DT, et al. Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus[J]. Invest Ophthalmol Vis Sci,2012,53:3175-3182.
10. Lima LH, Schubert C, Ferrara DC, et al. Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy[J]. Ophthalmology,2010,117:1567-1570.
11. Chen H, Liu K, Chen LJ, et al. Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis[J]. Mol Vis,2012,18:816-829.
12. Jiang JJ, Wu X, Zhou P, et al. Meta-analysis of the relationship between the LOC387715/ARMS2 polymorphism and polypoidal choroidal vasculopathy[J]. Genet Mol Res,2012,11:4256-4267.
13. Yuan D, Yuan D, Yuan S, et al. The age-related maculopathy susceptibility 2 polymorphism and polypoidal choroidal vasculopathy in Asian populations: a meta-analysis[J]. Ophthalmology,2013,120:2051-2057.
14. Wells GA, Shea B, O’Connell D, et al. The Newcastle-Ottawa Scale (NOS) for assessing the quality of nonrandomised studies in meta-analyses[EB/OL].[2014-01-31].http://www.ohri.ca/programs/clinical_epidemiology/oxford.asp.
15. Lee KY, Vithana EN, Mathur R, et al. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy[J]. Invest Ophthalmol Vis Sci,2008,49:2613-2619.
16. Sakurada Y, Kubota T, Mabuchi F, et al. Association of LOC387715 A69S with vitreous hemorrhage in polypoidal choroidal vasculopathy[J]. Am J Ophthalmol,2008,145:1058-1062.
17. Park DH, Kim IT. Association of ARMS2/HTRA1 variants with polypoidal choroidal vasculopathy phenotype in a Korean population[J]. Jpn J Ophthalmol,2012,56:60-67.
18. Tanaka K, Nakayama T, Mori R, et al. Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2(ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy[J]. Invest Ophthalmol Vis Sci,2011,52:7441-7444.
19. Chantaren P, Ruamviboonsuk P, Ponglikitmongkol M, et al. Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations[J]. Clin Ophthalmol,2012,6:465-471.
20. Miki A, Honda S, Kondo N, et al. The association of age-related maculopathy susceptibility 2(ARMS2) and complement factor H (CFH) variants with two angiographic subtypes of polypoidal choroidal vasculopathy[J]. Ophthalmic Genet,2013,34:146-150.
21. 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[J]. Hum Mol Genet,2005,14:3227-3236.
22. 刘冉,李加青,曾婧,等.渗出型老年性黄斑变性与息肉样脉络膜血管病变患者年龄、性别及发病眼别的比较[J].中华眼底病杂志,2012,28:445-448.
23. Ciardella AP, Donsoff IM, Yannuzzi LA. Polypoidal choroidal vasculopathy[J]. Ophthalmol Clin North Am,2002,15:537-554.
24. Gomi F, Ohji M, Sayanagi K, et al. One-year outcomes of photodynamic therapy in age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese patients[J]. Ophthalmology,2008,115:141-146.
25. Honda S, Imai H, Yamashiro K, et al. Comparative assessment of photodynamic therapy for typical age-related macular degeneration and polypoidal choroidal vasculopathy: a multicenter study in Hyogo prefecture, Japan[J]. Ophthalmologica,2009,223:333-338.
26. Hatz K, Prünte C. Polypoidal choroidal vasculopathy in Caucasian patients with presumed neovascular age-related macular degeneration and poor ranibizumab response[J]. Br J Ophthalmol, 2014,98:188-194.
27. Matsumiya W, Honda S, Kusuhara S, et al. Effectiveness of intravitreal ranibizumab in exudative age-related macular degeneration (AMD): comparison between typical neovascular AMD and polypoidal choroidal vasculopathy over a 1 year follow-up[J/OL]. BMC Ophthalmol,2013,13:10[2014-01-31]. http://www.biomedcentral.com/1471-2415/13/10.

Chinese Journal of Ocular Fundus Diseases

The age-related maculopathy susceptibility 2 polymorphism and polypoidal choroidal vasculopathy: a systemic review and meta-analysis

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