September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Genome-wide association study comparing patients with exfoliation syndrome and exfoliation glaucoma.
Mineo Ozaki; Francesca Pasutto; Takanori Mizoguchi; Michael A Hauser; Fotis Topouzis; Michael Dubina; Deepak P Edward; Ningli Wang; Tin Aung; Chiea Chuen Khor
Author Affiliations & Notes
  • Mineo Ozaki
    Ozaki Eye Hospital, Hyuga, Japan
    Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan
  • Francesca Pasutto
    Institute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany
  • Takanori Mizoguchi
    Mizoguchi Eye Clinic, Sasebo, Japan
  • Michael A Hauser
    Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, United States
    Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States
  • Fotis Topouzis
    Department of Ophthalmology, Faculty of Medicine, Aristotle University of Thessaloniki, American Hellenic Educational Progressive Association Hospital, Thessaloniki, Greece
  • Michael Dubina
    Department of Ophthalmology, First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russian Federation
    St. Petersburg Academic University, St. Petersburg, Russian Federation
  • Deepak P Edward
    King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
  • Ningli Wang
    Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital,Capital Medical University, Beijing, China
  • Tin Aung
    Singapore Eye Research Institute, Singapore, Singapore
    Singapore National Eye Center, Singapore, Singapore
  • Chiea Chuen Khor
    Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore
    Singapore Eye Research Institute, Singapore, Singapore
  • Footnotes
    Commercial Relationships   Mineo Ozaki, None; Francesca Pasutto, None; Takanori Mizoguchi, None; Michael Hauser, None; Fotis Topouzis, None; Michael Dubina, None; Deepak Edward, None; Ningli Wang, None; Tin Aung, None; Chiea Chuen Khor, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 788. doi:
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      Mineo Ozaki, Francesca Pasutto, Takanori Mizoguchi, Michael A Hauser, Fotis Topouzis, Michael Dubina, Deepak P Edward, Ningli Wang, Tin Aung, Chiea Chuen Khor; Genome-wide association study comparing patients with exfoliation syndrome and exfoliation glaucoma.. Invest. Ophthalmol. Vis. Sci. 2016;57(12):788.

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Abstract

Purpose : A high percentage of patients with exfoliation syndrome (XFS) progress to develop exfoliation glaucoma (XFG). We recently reported a genome-wide association study (GWAS) identifying CACNA1A as associated with XFS, as well as confirming strong association at LOXL1 (Nature Genetics 2015; 47:387-92). The aim of this study was to perform a genome wide, case-only comparison between XFS cases and XFG cases.

Methods : We performed age-matched, case-only genome-wide association study contrasting genome-wide genotypes of patients with XFG (N = 3000) against patients with XFS only (N = 3000). The XFG and XFS cases were enrolled from 7 countries. Meta-analysis summarizing the results across all cohorts was performed using fixed effects modeling weighted in an inverse-variance manner.

Results : Genome-wide analysis revealed a nominally significant excess of genetic markers showing suggestive evidence of association (P < 1 x 10-5) with XFG as opposed to XFS alone. These markers map to chromosome 2p near LGALSL (OR = 0.62, P = 2.9 x 10-6), chromosome 15q near GABRB3 (OR = 1.45, P = 4 x 10-6), Chromosome 3q terminus (OR = 1.55, P = 6 x 10-6), Chromosome 8q near RSPO2 (OR = 1.45, P = 4 x 10-6), Chromosome 21q (OR = 0.68, P = 6.4 x 10-6), and chromosome 2p near RNF144A (OR = 1.4, P = 9.8 x 10-6). No genome-wide significant association difference was observed for XFG vs XFS.

Conclusions : Our current GWAS study did not detect genetic differences between XFS and XFG. Studies involving deployment of larger sample sizes and precise clinical phenotyping could provide with more statistical power to evaluate potential genetic differences between XFS and XFG.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
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Copyright © 2015 Association for Research in Vision and Ophthalmology.
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