American Journal of Ophthalmology
Volume 148, Issue 6 , Pages 869-874 , December 2009

Comprehensive Analysis of Complement Factor H and LOC387715/ARMS2/HTRA1 Variants With Respect to Phenotype in Advanced Age-Related Macular Degeneration

  • Michael T. Andreoli

      Affiliations

    • Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
    • ,
  • Margaux A. Morrison

      Affiliations

    • Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
    • ,
  • Ben J. Kim

      Affiliations

    • Retina Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
    • ,
  • Ling Chen

      Affiliations

    • Retina Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
    • ,
  • Scott M. Adams

      Affiliations

    • Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
    • ,
  • Joan W. Miller

      Affiliations

    • Retina Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
    • ,
  • Margaret M. DeAngelis

      Affiliations

    • Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
    • ,
  • Ivana K. Kim

      Affiliations

    • Retina Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
    • Corresponding Author InformationInquiries to Ivana K. Kim, Retina Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114

,Accepted 1 July 2009.

References 

  1. DeAngelis MM, Ji F, Kim IK, et al. Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol. 2007;125:49–54
  2. Edwards AO, Ritter R, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421–424
  3. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385–389
  4. 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
  5. Zareparsi S, Branham KE, Li M, et al. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet. 2005;77:149–153
  6. 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
  7. Souied EH, Leveziel N, Richard F, et al. Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis. 2005;11:1135–1140
  8. Sepp T, Khan JC, Thurlby DA, et al. Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci. 2006;47:536–540
  9. Wegscheider BJ, Weger M, Renner W, et al. Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. Ophthalmology. 2007;114:738–742
  10. Brantley MA, Edelstein SL, King JM, Apte RS, Kymes SM, Shiels A. Clinical phenotypes associated with the complement factor H Y402H variant in age-related macular degeneration. Am J Ophthalmol. 2007;144:404–408
  11. Droz I, Mantel I, Ambresin A, Faouzi M, Schorderet DF, Munier FL. Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism. Br J Ophthalmol. 2008;92:513–517
  12. Goverdhan SV, Hannan S, Newsom RB, Luff AJ, Griffiths H, Lotery AJ. An analysis of the CFH Y402H genotype in AMD patients and controls from the United Kingdom, and response to PDT treatment. Eye. 2008;22:849–854
  13. Leveziel N, Zerbib J, Richard F, et al. Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes. Invest Ophthalmol Vis Sci. 2008;49:3090–3094
  14. Brantley MA, 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;114:2168–2173
  15. Brantley MA, Edelstein SL, King JM, et al. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy. Eye. 2009;23:626–631
  16. Shuler RK, Schmidt S, Gallins P, et al. Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration. Am J Ophthalmol. 2008;145:303–307
  17. Chen H, Yang Z, Gibbs D, et al. Association of HTRA1 polymorphism and bilaterality in advanced age-related macular degeneration. Vision Res. 2008;48:690–694
  18. Gotoh N, Yamada R, Nakanishi H, et al. 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
  19. Age-Related Eye Disease Study Research Group. The age-related eye disease study system for classifying age-related macular degeneration from stereoscopic color fundus photographs: the Age-Related Eye Disease Study Report No. 6. Am J Ophthalmol. 2001;132:668–681
  20. Macular Photocoagulation Study Group. Risk factors for choroidal neovascularization in the second eye of patients with juxtafoveal or subfoveal choroidal neovascularization secondary to age-related macular degeneration. Arch Ophthalmol. 1997;115:741–747
  21. Age-Related Eye Disease Study Research Group. The age-related eye disease study severity scale for age-related macular degeneration: AREDS Report No. 17. Arch Ophthalmol. 2005;123:1484–1498
  22. DeAngelis MM, Ji F, Adams S, et al. Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology. 2008;115:1209–1215.e7
  23. Zhang H, Morrison MA, Dewan A, et al. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC Med Genet. 2008;9:51
  24. Fisher SA, Abecasis GR, Yashar BM, et al. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. 2005;14:2257–2264
  25. Shuler RK, Hauser MA, Caldwell J, et al. Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. Arch Ophthalmol. 2007;125:63–67
  26. 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

PII: S0002-9394(09)00496-6

doi: 10.1016/j.ajo.2009.07.002

American Journal of Ophthalmology
Volume 148, Issue 6 , Pages 869-874 , December 2009

Article Tools