American Journal of Ophthalmology
Volume 144, Issue 3 , Pages 404-408.e1 , September 2007

Clinical Phenotypes Associated with the Complement Factor H Y402H Variant in Age-related Macular Degeneration

  • Milam A. Brantley, Jr

      Affiliations

    • Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri
    • Barnes Retina Institute, St Louis, Missouri.
    • Corresponding Author InformationInquiries to Milam A. Brantley, Jr, Department of Ophthalmology and Visual Sciences/Campus Box 8096, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110
    • ,
  • Sean L. Edelstein

      Affiliations

    • Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri
    • ,
  • Jennifer M. King

      Affiliations

    • Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri
    • ,
  • Rajendra S. Apte

      Affiliations

    • Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri
    • Barnes Retina Institute, St Louis, Missouri.
    • ,
  • Steven M. Kymes

      Affiliations

    • Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri
    • ,
  • Alan Shiels

      Affiliations

    • Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri

,Accepted 15 May 2007.

References 

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  2. Hageman GS, Luthert PJ, Chong VNH, et al. An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch’s membrane interface in aging and age-related macular degeneration. Prog Retin Eye Res. 2001;20:705–732
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  13. Schaumberg DA, Christen WG, Kozlowski P, et al. A prospective assessment of the Y402H variant in complement factor H, genetic variants in c-reactive protein, and risk of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006;47:2336–2340
  14. Simonelli F, Frisso G, Testa F, et al. Polymorphism p.402Y→H in the complement factor H protein is a risk factor for age-related macular degeneration in an Italian population. Br J Ophthalmol. 2006;90:1142–1145
  15. Despriet DDG, Klaver CCW, Witteman JCM, et al. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA. 2006;296:301–309
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  17. Postel EA, Agarwal A, Caldwell J, et al. Complement factor H increases risk for atrophic age-related macular degeneration. Ophthalmology. 2006;113:1504–1507
  18. Kaur I, Hussain A, Hussain N, et al. Analysis of CFh, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006;47:3729–3735
  19. Seddon JM, George S, Rosner B, Klein ML. CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered. 2006;61:157–165
  20. 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
  21. Uka J, Tamura H, Kobayashi T, et al. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population. Retina. 2006;26:985–987
  22. Thakkinstian A, Han P, McEvoy M, et al. Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet. 2006;15:2784–2790
  23. Li M, Atmaca-Sonmez P, Othman M, et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet. 2006;38:1049–1054
  24. Maller J, George S, Purcell S, et al. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet. 2006;38:1055–1059
  25. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006;38:458–462
  26. Shuler RK, Hauser MA, Caldwell J, et al. Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphisms. Arch Ophthalmol. 2007;125:63–67
  27. Age-Related Eye Disease Study Group. Risk factors associated with age-related macular degeneration. A case-control study in the age-related eye disease study. Age-Related Eye Disease Study Report No 3. Ophthalmology. 2000;107:2224–2232
  28. Pauleikhoff D. Neovascular age-related macular degeneration. Retina. 2005;25:10065–10084
  29. Haddad WM, Coscas G, Soubrane G. Eligibility for treatment and angiographic features at the early stage of exudative age-related macular degeneration. Br J Ophthalmol. 2002;86:663–669
  30. Gragoudas ES, Adamis AP, Cunningham ET, et al. Pegaptanib for neovascular age-related macular degeneration. N Engl J Med. 2004;351:2805–2816

PII: S0002-9394(07)00484-9

doi: 10.1016/j.ajo.2007.05.018

American Journal of Ophthalmology
Volume 144, Issue 3 , Pages 404-408.e1 , September 2007

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