April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Combined Genotyping And Genome-wide Expression Analysis Of Peripheral Blood To Identify Biomarkers For Age-related Macular Degeneration
Atsuhiro Kanda; Wei Chen; Philip Ruzycki; Matthew Brooks; Emily Y. Chew; Gonçalo R. Abecasis; Dwight Stambolian; Anand Swaroop
Author Affiliations & Notes
  • Atsuhiro Kanda
    Laboratory of Ocular Cell Biology and Visual Science, Departments of Ophthalmology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Neurobiology Neurodegeneration & Repair Laboratory,
    National Eye Institute, National Institutes of Health, Bethesda, Maryland
  • Wei Chen
    Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan
  • Philip Ruzycki
    Neurobiology Neurodegeneration & Repair Laboratory,
    National Eye Institute, National Institutes of Health, Bethesda, Maryland
  • Matthew Brooks
    Neurobiology Neurodegeneration & Repair Laboratory,
    National Eye Institute, National Institutes of Health, Bethesda, Maryland
  • Emily Y. Chew
    Division of Epidemiology and Clinical Applications,
    National Eye Institute, National Institutes of Health, Bethesda, Maryland
  • Gonçalo R. Abecasis
    Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan
  • Dwight Stambolian
    Department of Ophthalmology and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania
  • Anand Swaroop
    Neurobiology Neurodegeneration & Repair Laboratory,
    National Eye Institute, National Institutes of Health, Bethesda, Maryland
  • Footnotes
    Commercial Relationships  Atsuhiro Kanda, None; Wei Chen, None; Philip Ruzycki, None; Matthew Brooks, None; Emily Y. Chew, None; Gonçalo R. Abecasis, None; Dwight Stambolian, None; Anand Swaroop, None
  • Footnotes
    Support  NEI intramural program, JSPS KAKENHI-22890007 and Japan Intractable Disease Research Foundation
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5251. doi:
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      Atsuhiro Kanda, Wei Chen, Philip Ruzycki, Matthew Brooks, Emily Y. Chew, Gonçalo R. Abecasis, Dwight Stambolian, Anand Swaroop; Combined Genotyping And Genome-wide Expression Analysis Of Peripheral Blood To Identify Biomarkers For Age-related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5251.

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Abstract

Purpose: : Susceptibility to AMD is a multi-factorial trait involving aging associated changes, genetic and environmental factors. Our goal is to identify genetic biomarkers that can be diagnostic of different stages of AMD pathogenesis.

Methods: : Sixty four blood samples [twenty four aged controls, twenty four early AMD (large drusen) and sixteen late AMD (GA or CNV) subjects] were collected from Caucasian individuals and purified RNA and genomic DNA. Gene expressions and genotyping were performed with whole-transcript sense target assay and genome-wide human SNP Nsp/Sty assay 5.0.

Results: : We have generated global RNA expression profiles of 64 samples using exon arrays and are completing the genotyping. The correlation of differentiation gene expression data with genotypes and early vs late AMD stages is in progress and will be presented.

Conclusions: : Our studies have a potential to identify novel genetic markers that can be used for presymptomatic analysis.

Keywords: age-related macular degeneration • genetics • gene/expression 
© 2011, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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