June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Genome-wide association study identifies a new genetic locus at 2q36.3 for polypoidal choroidal vasculopathy in East Asians: The GAMA consortium
Author Affiliations & Notes
  • Tien Yin Wong
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
    Duke-National University of Singapore School of Medicine, Singapore, Singapore
  • Masayuki Yasuda
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
  • Qiao Fan
    Duke-National University of Singapore School of Medicine, Singapore, Singapore
  • Chui Ming Gemmy Cheung
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
  • Masato Akiyama
    RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
  • Chiea Chuen Khor
    Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore
  • Chi Pui Pang
    Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong
  • Kyu Hyung Park
    Ophthalmology, Seoul National University Bundang Hospital, Seoul, Korea (the Republic of)
  • Nagahisa Yoshimura
    Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
  • Ching-Yu Cheng
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
  • Footnotes
    Commercial Relationships   Tien Wong, None; Masayuki Yasuda, None; Qiao Fan, None; Chui Ming Gemmy Cheung, Allergan (R), Bayer (F), Bayer (C), Bayer (R), Novartis (F), Novartis (C), Novartis (R), Topcon (R); Masato Akiyama, None; Chiea Chuen Khor, None; Chi Pui Pang, None; Kyu Hyung Park, None; Nagahisa Yoshimura, None; Ching-Yu Cheng, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 1228. doi:
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      Tien Yin Wong, Masayuki Yasuda, Qiao Fan, Chui Ming Gemmy Cheung, Masato Akiyama, Chiea Chuen Khor, Chi Pui Pang, Kyu Hyung Park, Nagahisa Yoshimura, Ching-Yu Cheng; Genome-wide association study identifies a new genetic locus at 2q36.3 for polypoidal choroidal vasculopathy in East Asians: The GAMA consortium. Invest. Ophthalmol. Vis. Sci. 2017;58(8):1228.

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

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Abstract

Purpose : Polypoidal choroidal vasculopathy (PCV) is the most common subtype of age-related macular degeneration (AMD) in East Asians. Genome-wide association studies (GWASs) have identified at least 30 genetic variants for AMD. However, it remains unclear whether there is any unique genetic variation for PCV. In this study, we aim to identify susceptibility loci unique to PCV in East Asian populations.

Methods : We conducted a GWAS of 1,062 PCV cases and 1,152 typical noevascular AMD (tAMD) cases versus 5,275 non-AMD controls, comprising individuals of East Asian ancestry recruited in the Genetics of AMD in Asians (GAMA) Consortium. Genetic variants were genotyped using the Illumina HumanOmniExpress bead chips and imputed with multi-ethnic 1000 genome data as reference panels. For the replication, we genotyped a total of 895 PCV cases, 721 tAMD cases and 5,734 non-AMD controls from 3 independent sample collections in East Asians.

Results : At the discovery stage, three loci showed genome-wide significant association with PCV (P < 5.0 × 10-8), including known loci of ARMS2 (rs11200634, P =9.97 x 10-14) and CFH (rs514591, P = 1.45 x 10-26), and a novel locus at 2q36.3 (odds ratio [OR] = 1.45, P = 2.88 × 10-8). We replicate the 2q36.3 regions in three independent sample collections (OR = 1.26, P = 3.35×10-4; overall P = 1.18 × 10-10). For tAMD, the association at the 2q36.3 locus was marginal (overall OR = 1.18; P = 1.02×10-3), with smaller effect size compared to PCV (Pdif = 0.048). The new genetic locus is involved in the structure of basement membrane in RPE and choriocapillaris.

Conclusions : We found a new genetic locus associated with PCV susceptibility and this locus is more closely involved in the pathogenesis of PCV than that of tAMD.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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