September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
ABCG1 as a new susceptibility gene for neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese and Japanese
Author Affiliations & Notes
  • Chi Pui Calvin Pang
    Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Kowloon, Hong Kong
  • Li Ma
    Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Kowloon, Hong Kong
  • Motokazu Tsujikawa
    Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan
  • Haoyu Chen
    Joint Shantou International Eye Center, Shantou, China
  • Marten Erik Brelen
    Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Kowloon, Hong Kong
  • Pancy OS Tam
    Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Kowloon, Hong Kong
  • Kohji Nishida
    Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan
  • Li Jia Chen
    Ophthalmology & Visual Sciences, Chinese University of Hong Kong, Kowloon, Hong Kong
  • Footnotes
    Commercial Relationships   Chi Pui Pang, None; Li Ma, None; Motokazu Tsujikawa, None; Haoyu Chen, None; Marten Brelen, None; Pancy OS Tam, None; Kohji Nishida, None; Li Jia Chen, None
  • Footnotes
    Support  The National Natural Science Foundation of China (81500764 (L.J.C.)) and a Direct Grant of the Chinese University of Hong Kong (4054119 (C.P.P.))
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 2631. doi:
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      Chi Pui Calvin Pang, Li Ma, Motokazu Tsujikawa, Haoyu Chen, Marten Erik Brelen, Pancy OS Tam, Kohji Nishida, Li Jia Chen; ABCG1 as a new susceptibility gene for neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in Chinese and Japanese. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2631.

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

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Abstract

Purpose : To determine the association of the ATP-binding cassette, subfamily G, member 1 (ABCG1) gene with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in Chinese and Japanese.

Methods : Eleven haplotype-tagging single-nucleotide polymorphisms (SNPs) and the SNP rs57137919 in the ABCG1 gene were genotyped using TaqMan genotyping technology in three cohorts, including a Hong Kong Chinese cohort of over 230 nAMD patients, 230 PCV patients and 360 controls, a Shantou Chinese cohort of 180 nAMD, 180 PCV and 670 controls, and an Osaka Japanese cohort of 190 nAMD, 200 PCV and 150 controls.

Results : In the Hong Kong cohort, SNP rs57137919 was associated with PCV (odds ratio [OR]=1.3). A tagging SNP rs225396 was associated with both nAMD (OR=1.2) and PCV (OR=1.3). In the Shantou cohort, the effect of rs225396 for nAMD (OR=1.05) and PCV (OR=1.2) were toward the same trend with that in the Hong Kong cohort, though not reaching statistical significance. In the Osaka cohort, SNP rs225396 was associated with both nAMD (OR=1.4) and PCV (OR=1.7), while rs183436 was associated with PCV (OR=1.6). In the meta-analysis involving the 3 cohorts, rs225396 showed an enhanced, significant association with both nAMD (P=0.01; OR=1.2; I2=14%) and PCV (P<0.005; OR=1.3; I2=46%). Also, a haplotype A-T, defined by rs183436 and rs225396, conferred increased risks for nAMD (P=0.04; OR=1.1; I2=8%) and PCV (P=0.01; OR=1.3; I2=54%) in the pooled subjects.

Conclusions : Results of this study confirmed ABCG1 as a new susceptibility gene for PCV and nAMD in Chinese and Japanese, with a stronger effect on PCV.

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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