Ophthalmology
Volume 117, Issue 8 , Pages 1567-1570, August 2010

Three Major Loci Involved in Age-Related Macular Degeneration Are Also Associated with Polypoidal Choroidal Vasculopathy

  • Luiz H. Lima, MD

      Affiliations

    • The Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York
    • ,
  • Carl Schubert, BA

      Affiliations

    • Department of Ophthalmology, Columbia University, New York
    • ,
  • Daniela C. Ferrara, MD

      Affiliations

    • The Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York
    • ,
  • Joanna E. Merriam, MD, PhD

      Affiliations

    • Department of Ophthalmology, Columbia University, New York
    • ,
  • Yutaka Imamura, MD

      Affiliations

    • The Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York
    • ,
  • K. Bailey Freund, MD

      Affiliations

    • The Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York
    • ,
  • Richard F. Spaide, MD

      Affiliations

    • The Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York
    • ,
  • Lawrence A. Yannuzzi, MD

      Affiliations

    • The Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York
    • ,
  • Rando Allikmets, PhD

      Affiliations

    • Department of Ophthalmology, Columbia University, New York
    • Department of Pathology & Cell Biology, Columbia University, New York
    • Corresponding Author InformationCorrespondence: Rando Allikmets, PhD, Eye Institute Research Addition, Columbia University, 160 Fort Washington Avenue, 7th Floor, Room 715, New York, NY, 10032

Received 16 September 2009; received in revised form 2 November 2009; accepted 9 November 2009. published online 08 April 2010.

Available online: April 8, 2010.

Purpose

To investigate the frequency of variants in 3 major age-related macular degeneration (AMD)-associated loci in patients of European-American descent with polypoidal choroidal vasculopathy (PCV).

Design

Cross-sectional, case-control association study.

Participants

Fifty-five patients with PCV, 368 patients with advanced AMD, and 368 age-matched and ethnically matched unaffected controls of European-American descent.

Methods

Association analysis of allele and genotype frequencies, determined by TaqMan assays, was performed for the following haplotype-tagging single nucleotide polymorphisms (htSNPs): risk alleles in the complement factor H (CFH) gene (Y402H and IVS14) in the ARMS2/HTRA1 locus on 10q26 (A69S) and protective alleles in CFH (IVS1 and IVS6) and in the complement factor B/complement component C2 (CFB/C2) locus (IVS10 and H9L).

Main Outcome Measures

Allele and genotype frequencies of the htSNPs in the CFH, CFB/C2, and ARMS2/HTRA1 loci.

Results

Four AMD-associated haplotype-tagging alleles (rs547154, rs1061170, rs1410996, rs10490924) in the 3 major loci, CFH, CFB/C2, and ARMS2/HTRA1, also were statistically significantly associated with the PCV phenotype (P<0.05). Three other alleles from the same loci (rs4151667, rs529825, rs3766404) showed a trend toward association (P<0.2) but did not reach statistical significance, possibly because of the combined effects of a relatively small sample size and low minor allele frequency in the screened populations.

Conclusions

The PCV phenotype in Caucasian patients is associated with the major alleles/genotypes in the AMD-associated loci, suggesting that PCV and AMD are genetically similar in the tested loci.

Financial Disclosure(s)

The author(s) have no proprietary or commercial interest in any materials discussed in this article.

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 Manuscript no. 2009-1288.

 Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

 Supported by grants National Institutes of Health EY13435, EY017404, The Macula Foundation, Inc., and an unrestricted grant to the Department of Ophthalmology, Columbia University, from Research to Prevent Blindness, Inc. Dr. Imamura was funded by grants from Koureisha Ganshikkan Kenkyu Zaidan, Mishima Saiichi-kinen Gankakenkyu Kokusaikouryu Kikin, and Takeda Kagaku Shinkou Zaidan.

PII: S0161-6420(09)01443-2

doi:10.1016/j.ophtha.2009.12.018

Ophthalmology
Volume 117, Issue 8 , Pages 1567-1570, August 2010

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