April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Cone- Rod Dystrophy 3 Whole- Genome Association Study Identifies a Locus on Canine Chromosome 16
Author Affiliations & Notes
  • O. Goldstein
    James A Baker Institute,
    Cornell University, Ithaca, New York
  • J. G. Mezey
    Department of Biological Statistics and Computational Biology,
    Cornell University, Ithaca, New York
    Department of Genetic Medicine, Weill Cornell Medical College, New York, New York
  • A. R. Boyko
    Department of Biological Statistics and Computational Biology,
    Cornell University, Ithaca, New York
  • C. Gao
    Department of Biological Statistics and Computational Biology,
    Cornell University, Ithaca, New York
  • W. Wang
    Microarray Core Facility,
    Cornell University, Ithaca, New York
  • C. D. Bustamante
    Department of Biological Statistics and Computational Biology,
    Cornell University, Ithaca, New York
  • G. D. Aguirre
    School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
  • G. M. Acland
    James A Baker Institute,
    Cornell University, Ithaca, New York
  • Footnotes
    Commercial Relationships  O. Goldstein, None; J.G. Mezey, None; A.R. Boyko, None; C. Gao, None; W. Wang, None; C.D. Bustamante, None; G.D. Aguirre, Optigen LLC, I; Optigen LLC, C; G.M. Acland, Optigen LLC, I; Optigen LLC, C.
  • Footnotes
    Support  EY006855, -17549, GM082910, Foundation Fighting Blindness, Morris Animal Foundation, and Van Sloun Fund
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 1657. doi:
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      O. Goldstein, J. G. Mezey, A. R. Boyko, C. Gao, W. Wang, C. D. Bustamante, G. D. Aguirre, G. M. Acland; Cone- Rod Dystrophy 3 Whole- Genome Association Study Identifies a Locus on Canine Chromosome 16. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1657.

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Abstract

Introduction: : Canine cone- rod dystrophy 3 (crd3) is an adult onset hereditary disease recognized in the Glen of Imaal Terrier dog breed. The disease is characterized by dysfunction and degeneration of cone photoreceptors preceding that of rods, and progresses eventually to complete blindness. The mode of inheritance has not previously been conclusively established.

Purpose: : To identify the mode of inheritance and the locus responsible for canine crd3 in the Glen of Imaal Terrier breed by whole- genome association study (WGAS).

Methods: : DNA was extracted from 21 crd3 - affected dogs (cases) and 22 unaffected (controls) using standard protocols. Samples were genotyped using the Affymetrix Version 2, Canine SNP chip following the standard Affymetrix GeneChip® Mapping 250K Sty Assay protocol. Genotypes were called using the "MAGIC" algorithm and tested for association with the disease phenotype using Fisher’s Exact test, and a Bonferroni-corrected significance threshold set at -Log10(p) ≥ 6.39.

Results: : WGAS identified one locus on chromosome 16 with significant association to crd3 . The region extended over 6 Mb and included 31 SNPs that exceeded the Bonferroni corrected significance threshold (-Log10(p) range = 6.39 - 10.09). Haplotype analysis reduced the minimal Linkage Disequilibrium to a 2.7 Mb interval and suggests a recessive mode of inheritance. Candidate genes within this interval are now being evaluated.

Conclusions: : crd3 is a simple mendelian disease with an autosomal recessive mode of inheritance. WGAS using carefully selected cases and controls, with about 20 dogs per group, identified a region on canine chromosome 16 that potentially harbors the crd3 gene and mutation.

Keywords: retinal degenerations: hereditary • gene mapping • genetics 
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