rs10490924 surrounding HTRA1/ARMS2 regulates the susceptibility of age-related macular degeneration

References

• Friedman DS, O'Colmain BJ, Munoz B, et al. Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol. 2004;122(4):564–572.
   PubMed Web of Science ®Google Scholar
• Xu L, Li YB, Wang YX, et al. Age-related macular degeneration and mortality: the Beijing eye study. Ophthalmologica. 2008;222(6):378–379.
   PubMed Web of Science ®Google Scholar
• Horie-Inoue K, Inoue S. Genomic aspects of age-related macular degeneration. Biochem Biophys Res Commun. 2014;452(2):263–275.
   PubMed Web of Science ®Google Scholar
• Khanamiri HN, Falavarjani KG, Sanati MH, et al. Complement factor H Y402H and LOC387715 A69S polymorphisms in association with age-related macular degeneration in Iran. J Ophthal Vision Res. 2014;9(2):181.
   PubMedGoogle Scholar
• Fritsche LG, Loenhardt T, Janssen A, et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet. 2008;40(7):892–896.
   PubMed Web of Science ®Google Scholar
• Francis PJ, Zhang H, DeWan A, et al. Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population. Mol Vision. 2008;14:1395.
   PubMed Web of Science ®Google Scholar
• Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314(5801):992–993.
   PubMed Web of Science ®Google Scholar
• Nakayama M, Iejima D, Akahori M, et al. Overexpression of HtrA1 and exposure to mainstream cigarette smoke leads to choroidal neovascularization and subretinal deposits in aged mice. Invest Ophthalmol Vis Sci. 2014;55(10):6514–6523.
   PubMed Web of Science ®Google Scholar
• Jones A, Kumar S, Zhang N, et al. Increased expression of multifunctional serine protease, HTRA1, in retinal pigment epithelium induces polypoidal choroidal vasculopathy in mice. Proc Natl Acad Sci USA. 2011;108(35):14578–14583.
   PubMed Web of Science ®Google Scholar
• Vierkotten S, Muether PS, Fauser S. Overexpression of HTRA1 leads to ultrastructural changes in the elastic layer of Bruch's membrane via cleavage of extracellular matrix components. PLoS One. 2011;6(8):e22959.
   PubMed Web of Science ®Google Scholar
• Almeida LN, Melilo-Carolino R, Veloso CE, et al. Association analysis of CFH and ARMS2 gene polymorphisms in a Brazilian cohort with age-related macular degeneration. Ophthalmic Res. 2013;50(2):117–122.
   PubMed Web of Science ®Google Scholar
• Bressler NM, Bressler SB, Fine SL. Age-related macular degeneration. Surv Ophthalmol. 1988;32(6):375–413.
   PubMed Web of Science ®Google Scholar
• 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(6):1037–1041.
   PubMed Web of Science ®Google Scholar
• Jakobsdottir J, Conley YP, Weeks DE, et al. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005;77(3):389–407.
   PubMed Web of Science ®Google Scholar
• Kanda A, Chen W, Othman M, 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(41):16227–16232.
   PubMed Web of Science ®Google Scholar
• Lin MT, Beal MF. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature. 2006;443(7113):787–795.
   PubMed Web of Science ®Google Scholar
• Pulido JS, Peterson LM, Mutapcic L, et al. LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic. Ophthalmic Genet. 2007;28(4):203–207.
   PubMed Web of Science ®Google Scholar
• 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. Hum Mol Genet. 2005;14(21):3227–3236.
   PubMed Web of Science ®Google Scholar
• Scholl HP, Fleckenstein M, Issa PC, et al. An update on the genetics of age-related macular degeneration. Mol Vision. 2007;13:196.
   PubMed Web of Science ®Google Scholar
• Spencer KL, Hauser MA, Olson LM, et al. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet. 2007;16(16):1986–1992.
   PubMed Web of Science ®Google Scholar
• Wang G, Scott WK, Agarwal A, et al. Coding variants in ARMS2 and the risk of age-related macular degeneration. JAMA Ophthalmol. 2013;131(6):804–805.
   PubMed Web of Science ®Google Scholar
• Wang G, Spencer KL, Scott WK, et al. Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration. Hum Genet. 2010;127(5):595–602.
   PubMed Web of Science ®Google Scholar
• Wang D, Zhou J, Hou X, et al. CETP gene may be associated with advanced age-related macular degeneration in the chinese population. Ophthalmic Genet. 2014;36(4):303–308.
   PubMed Web of Science ®Google Scholar
• Zhou J, Wang D, Zhang J, et al. RAD51 gene is associated with advanced age-related macular degeneration in Chinese population. Clin Biochem. 2013;46(16–17):1689–1693.
   PubMed Web of Science ®Google Scholar
• Higgins JP, Thompson SG, Deeks JJ, et al. Measuring inconsistency in meta-analyses. BMJ. 2003;327(7414):557–560.
   PubMed Web of Science ®Google Scholar
• Higgins J, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med. 2002;21(11):1539–1558.
   PubMed Web of Science ®Google Scholar
• DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7(3):177–188.
   PubMedGoogle Scholar
• Egger M, Smith GD, Schneider M, et al. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315(7109):629–634.
   PubMed Web of Science ®Google Scholar
• Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics. 1994;50(4):1088–1101.
   PubMed Web of Science ®Google Scholar
• Seddon JM, Gensler G, Rosner B. C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration. Ophthalmology. 2010;117(8):1560–1566.
   PubMed Web of Science ®Google Scholar
• Leveziel N, Souied EH, Richard F, et al. PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population. Mol Vis. 2007;13:2153–2159.
   PubMed Web of Science ®Google Scholar
• Chowers I, Meir T, Lederman M, 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 Vision. 2008;14:2263.
   PubMed Web of Science ®Google Scholar
• Zerbib J, Delcourt C, Puche N, et al. Risk factors for exudative age-related macular degeneration in a large French case–control study. Graefe Arch Clin Exp Ophthalmol. 2014;252(6):899–907.
   PubMed Web of Science ®Google Scholar
• Fourgeux C, Dugas B, Richard F, et al. Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2012;53(11):7026–7033.
   PubMed Web of Science ®Google Scholar
• Tanaka K, Nakayama T, Yuzawa M, et al. Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population. Mol Vis. 2011;17:2751–2758.
   PubMed Web of Science ®Google Scholar
• Kaur I, Katta S, Hussain A, et al. Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. Invest Ophthalmol Vis Sci. 2008;49(5):1771–1776.
   PubMed Web of Science ®Google Scholar
• Xu Y, Guan N, Xu J, et al. Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population. Mol Vision. 2008;14:1373.
   PubMed Web of Science ®Google Scholar
• Hirata FE, Vasconcellos JPCd, Medina FM, et al. Association of LOC387715/ARMS2 (rs10490924) gene polymorphism with age-related macular degeneration in the Brazilian population. Ophthalmic Genet. 2015; 36(3):224–225.
   PubMed Web of Science ®Google Scholar
• Kaur I, Cantsilieris S, Katta S, et al. Association of the del443ins54 at the ARMS2 locus in Indian and Australian cohorts with age-related macular degeneration. Mol Vision. 2013;19:822.
   PubMed Web of Science ®Google Scholar
• Oka C, Tsujimoto R, Kajikawa M, et al. HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins. Development. 2004;131(5):1041–1053.131].
   PubMed Web of Science ®Google Scholar
• Grau S, Richards PJ, Kerr B, et al. The role of human HtrA1 in arthritic disease. J Biol Chem. 2006;281(10):6124–6129.
   PubMed Web of Science ®Google Scholar