April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Genome Wide Association Study With Dna Pooling Identifies Variants at Cntnap2 Associated With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma
F. Pasutto; M. Krumbiegel; U. Schloetzer-Schrehardt; S. Uebe; M. Zenkel; C. Y. Mardin; N. Weisschuh; D. Paoli; F. E. Kruse; A. Reis
Author Affiliations & Notes
  • F. Pasutto
    Human Genetics,
    Erlangen-Nuremberg University Hospital, Erlangen, Germany
  • M. Krumbiegel
    Human Genetics,
    Erlangen-Nuremberg University Hospital, Erlangen, Germany
  • U. Schloetzer-Schrehardt
    Ophthalmology,
    Erlangen-Nuremberg University Hospital, Erlangen, Germany
  • S. Uebe
    Human Genetics,
    Erlangen-Nuremberg University Hospital, Erlangen, Germany
  • M. Zenkel
    Ophthalmology,
    Erlangen-Nuremberg University Hospital, Erlangen, Germany
  • C. Y. Mardin
    Ophthalmology,
    Erlangen-Nuremberg University Hospital, Erlangen, Germany
  • N. Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, Tübingen, Germany
  • D. Paoli
    Ophthalmology, Azienda Ospedaliera, Monfalcone, Italy
  • F. E. Kruse
    Ophthalmology,
    Erlangen-Nuremberg University Hospital, Erlangen, Germany
  • A. Reis
    Human Genetic,
    Erlangen-Nuremberg University Hospital, Erlangen, Germany
  • Footnotes
    Commercial Relationships  F. Pasutto, None; M. Krumbiegel, None; U. Schloetzer-Schrehardt, None; S. Uebe, None; M. Zenkel, None; C.Y. Mardin, None; N. Weisschuh, None; D. Paoli, None; F.E. Kruse, None; A. Reis, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2158. doi:
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      F. Pasutto, M. Krumbiegel, U. Schloetzer-Schrehardt, S. Uebe, M. Zenkel, C. Y. Mardin, N. Weisschuh, D. Paoli, F. E. Kruse, A. Reis; Genome Wide Association Study With Dna Pooling Identifies Variants at Cntnap2 Associated With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2158.

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Abstract

Purpose: : Genetic and non-genetic factors contribute to the development of pseudoexfoliation (PEX) syndrome, a complex, age-related, generalized matrix process which is frequently associated with glaucoma. In order to identify specific genetic variants underlying its aetiology, we performed a genome-wide association study (GWAS) using a DNA pooling approach.

Methods: : Equimolar amounts of DNA samples of 80 subjects with PEX syndrome, 80 with PEX glaucoma (PEXG) and 80 controls, respectively, were combined into three separate pools and hybridized to 500K SNP arrays (Affymetrix). Array probe intensity data was analyzed and visualized with specially developed software tools GPFrontend and GPGraphics in combination with the GenePool program. For replication, independent German cohorts of 610 unrelated patients with PEX/PEXG and 364 controls as well as Italian cohorts of 249 patients and 190 controls were used.

Results: : Genotyping of selected SNPs in the CNTNAP2 locus revealed significant association between PEX syndrome/PEXG and two SNPs as well as their haplotype. The association found was confirmed in an independent German cohort but not in an Italian cohort. In the combined German cohorts the two SNPs remained significant after correction with permutation test (rs2107856: Pc=0.0044, rs2141388: Pc=0.0029).CNTNAP2 was found to be ubiquitously expressed in all human ocular tissues, particularly in the retina, and localized to cell membranes of epithelial, endothelial, smooth muscle, glial and neuronal cells.

Conclusions: : Confirming efficiency of GWAS with DNA pooling approach, our data show compelling evidence for the association of CNTNAP2 with PEX syndrome and PEXG in German patients.

Keywords: genetics • clinical (human) or epidemiologic studies: risk factor assessment • clinical (human) or epidemiologic studies: biostatistics/epidemiology methodology 
© 2010, 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 © 2024 Association for Research in Vision and Ophthalmology.
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