September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
World-wide genome-wide association study for exfoliation syndrome identifies 4 novel genetic loci.
Author Affiliations & Notes
  • Tin Aung
    Glaucoma, Singapore National Eye Center, Singapore, Singapore
    Singapore Eye Research Insiitute, Singapore, Singapore
  • Mineo Ozaki
    Ozaki Eye Hospital, Hyuga, Japan
  • Francesca Pasutto
    Institute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany
  • Rand R Allingham
    Glaucoma, Duke University Eye Center, Durham, North Carolina, United States
  • Unnur Thorsteinsdottir
    Faculty of Medicine, , University of Iceland, Reykjavik , Iceland
  • Jamie E Craig
    Ophthalmology, Flinders University, Adelaide, Adelaide, South Australia, Australia
  • Fotis Topouzis
    Aristotle University of Thessaloniki, American Hellenic Educational Progressive Association Hospital, Thessaloniki, Greece
  • Yuri Astakhov
    First Pavlov State Medical University of St. Petersburg, St Petersburg, Russian Federation
  • Periasamy Sundaresan
    Aravind Medical Research Foundation, Madurai, India
  • Chiea-Chuen Khor
    Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore
    Singapore Eye Research Insiitute, Singapore, Singapore
  • Footnotes
    Commercial Relationships   Tin Aung, None; Mineo Ozaki, None; Francesca Pasutto, None; Rand Allingham, None; Unnur Thorsteinsdottir, None; Jamie Craig, None; Fotis Topouzis, None; Yuri Astakhov, None; Periasamy Sundaresan, None; Chiea-Chuen Khor, None
  • Footnotes
    Support  Genome Institute of Singapore, NMRC Singapore, NRF Singapore, Singapore National Eye Centre
Investigative Ophthalmology & Visual Science September 2016, Vol.57, No Pagination Specified. doi:
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      Tin Aung, Mineo Ozaki, Francesca Pasutto, Rand R Allingham, Unnur Thorsteinsdottir, Jamie E Craig, Fotis Topouzis, Yuri Astakhov, Periasamy Sundaresan, Chiea-Chuen Khor; World-wide genome-wide association study for exfoliation syndrome identifies 4 novel genetic loci.. Invest. Ophthalmol. Vis. Sci. 2016;57(12):No Pagination Specified.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : Exfoliation syndrome (XFS) is an age-related systemic disease that is associated with increased risk for glaucoma. We recently reported a genome-wide association study (GWAS) identifying CACNA1A as associated with XFS (Nature Genetics 2015; 47:387-92). To further dissect the genetic architecture underling XFS susceptibility, we now expand the GWAS to include a large number of cases and controls from 6 continents around the world.

Methods : We performed an expanded genome-wide association analysis (GWAS) on 9,700 XFS cases and 98,000 controls from 24 countries in 6 continents. Meta-analysis summarizing the results across all cohorts was performed using fixed effects modeling weighted in an inverse-variance manner.

Results : We confirm strong association at LOXL1 (multiple SNPs) and CACNA1A rs4926244 in this new, expanded GWAS discovery collection. We also note genome-wide significant association (P<1x10-8) at four novel genetic loci. These signals map to Chromosome 6p (P = 8.5 x 10-9), 6q (P = 1.1 x 10-9), 11q (P = 1.86 x 10-9), and 13p (P = 6 x 10-10). We also observed a significant excess of genetic markers surpassing P < 1 x 10-6, suggesting that many of them could represent true positive associations with XFS.

Conclusions : Our expanded GWAS conducted on 9,700 XFS cases and 98,000 controls confirmed earlier observations and identified at least four novel genetic loci for XFS. Replication experiments for robust verification of these new findings are now underway. Our findings will broaden current understanding of the disease pathways that underlie XFS.

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


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