American Journal of Ophthalmology
Volume 147, Issue 6 , Pages 1037-1041.e2 , June 2009

ARMS2 (LOC387715) Variants in Japanese Patients with Exudative Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy

  • Norimoto Gotoh

      Affiliations

    • Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • ,
  • Hideo Nakanishi

      Affiliations

    • Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • ,
  • Hisako Hayashi

      Affiliations

    • Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • ,
  • Ryo Yamada

      Affiliations

    • Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan
    • ,
  • Atsushi Otani

      Affiliations

    • Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • ,
  • Akitaka Tsujikawa

      Affiliations

    • Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • ,
  • Kenji Yamashiro

      Affiliations

    • Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • ,
  • Hiroshi Tamura

      Affiliations

    • Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • ,
  • Masaaki Saito

      Affiliations

    • Department of Ophthalmology, Fukushima Medical University, Fukushima, Japan
    • ,
  • Kuniharu Saito

      Affiliations

    • Department of Ophthalmology, Fukushima Medical University, Fukushima, Japan
    • ,
  • Tomohiro Iida

      Affiliations

    • Department of Ophthalmology, Fukushima Medical University, Fukushima, Japan
    • ,
  • Fumihiko Matsuda

      Affiliations

    • Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • Centre National de Génotypage, Evry Cedex, France
    • ,
  • Nagahisa Yoshimura

      Affiliations

    • Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
    • Corresponding Author InformationInquiries to Nagahisa Yoshimura, Department of Ophthalmology, Kyoto University Graduate School of Medicine, Shogoin Kawahara-cho 54, Sakyo-ku, Kyoto 606-8507, Japan

,Accepted 30 December 2008.

References 

  1. Swaroop A, Branham KE, Chen W, Abecasis G. Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet. 2007;16:R174–R182
  2. Gorin MB. A clinician's view of the molecular genetics of age-related maculopathy. Arch Ophthalmol. 2007;125:21–29
  3. 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;297:1793–1800
  4. Edwards AO, Ritter R, Abel KJ, et al. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421–424
  5. 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
  6. Jakobsdottir J, Conley YP, Weeks DE, et al. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005;77:389–407
  7. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385–389
  8. 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;14:3227–3236
  9. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314:992–993
  10. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314:989–992
  11. Mori K, Gehlbach PL, Kabasawa S, et al. Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population. Invest Ophthalmol Vis Sci. 2007;48:5315–5319
  12. Byeon SH, Lee SC, Oh HS, et al. Incidence and clinical patterns of polypoidal choroidal vasculopathy in Korean patients. Jpn J Ophthalmol. 2008;52:57–62
  13. Maruko I, Iida T, Saito M, et al. Clinical characteristics of exudative age-related macular degeneration in Japanese patients. Am J Ophthalmol. 2007;144:15–22
  14. Gotoh 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;36:437–442
  15. Kondo N, Honda S, Ishibashi K, et al. LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population. Am J Ophthalmol. 2007;144:608–612
  16. 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. Invest Ophthalmol Vis Sci. 2008;49:2613–2619
  17. Fritsche LG, Loenhardt T, Janssen A, et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet. 2008;40:892–896
  18. The International HapMap Consortium. The International HapMap Project. Nature. 2003;426:789–796
  19. 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
  20. Takahashi M, Matsuda F, Margetic N, Lathrop M. Automated identification of single nucleotide polymorphisms from sequencing data. J Bioinform Comput Biol. 2003;1:253–265
  21. Gibbs D, Yang Z, Constantine R, et al. Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration. Vision Res. 2008;48:685–689
  22. 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 U S A. 2007;104:16227–16232
  23. Baer CA, Rickman CB, Srivastava S, et al. Recurrent choroidal neovascularization after macular translocation surgery with 360-degree peripheral retinectomy. Retina. Forthcoming.
  24. Eandi CM, Ober MD, Freund KB, et al. Selective photodynamic therapy for neovascular age-related macular degeneration with polypoidal choroidal neovascularization. Retina. 2007;27:825–831
  25. Yannuzzi LA, Wong DW, Sforzolini BS, et al. Polypoidal choroidal vasculopathy and neovascularized age-related macular degeneration. Arch Ophthalmol. 1999;117:1503–1510
  26. 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. Ophthalmology. 2008;115:141–146
  27. Uyama M, Wada M, Nagai Y, et al. Polypoidal choroidal vasculopathy: natural history. Am J Ophthalmol. 2002;133:639–648
  28. Kondo N, Honda S, Ishibashi K, et al. Elastin gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2008;49:1101–1105
  29. Lafaut BA, Aisenbrey S, van den Broecke C, et al. Polypoidal choroidal vasculopathy pattern in age-related macular degeneration: a clinicopathologic correlation. Retina. 2000;20:650–654
  30. Rosa RH, Davis JL, Eifrig CW. Clinicopathologic reports, case reports, and small case series: clinicopathologic correlation of idiopathic polypoidal choroidal vasculopathy. Arch Ophthalmol. 2002;120:502–508
  31. Mori K, Horie-Inoue K, Kohda M, et al. Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population. J Hum Genet. 2007;52:636–641
  32. Yoshida T, DeWan A, Zhang H, et al. HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration. Mol Vis. 2007;13:545–548
  33. Gotoh N, Yamada R, Hiratani H, et al. No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. Hum Genet. 2006;120:139–143
  34. Hayashi H, Gotoh N, Ueda Y, et al. Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. Am J Ophthalmol. 2008;145:582–585
  35. Ozaki M, Lee KY, Vithana EN, et al. Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese. Invest Ophthalmol Vis Sci. 2008;49:3976–3980

 Supplemental Material available at AJO.com.

PII: S0002-9394(09)00005-1

doi: 10.1016/j.ajo.2008.12.036

American Journal of Ophthalmology
Volume 147, Issue 6 , Pages 1037-1041.e2 , June 2009

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