July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Meta-analysis of genome-wide association studies on retinal nerve fber layer thickness in multi-ethnic Asians
Author Affiliations & Notes
  • Ching-Yu Cheng
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
    Ophthalmology & Visual Sciences Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore
  • Munemitsu Yoshikawa
    Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
  • Yih Chung Tham
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
  • Ya Xing Wang
    Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China
  • Wanting Zhao
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
  • Yoshikatsu Hosoda
    Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
  • Fumihiko Matsuda
    Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
  • Yasuharu Tabara
    Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
  • Akitaka Tsujikawa
    Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
  • Chiea Chuen Khor
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
    Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore
  • Tin Aung
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
    Ophthalmology & Visual Sciences Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore
  • Jost B Jonas
    Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China
    Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University of Heidelberg, Heidelberg, Heidelberg, Germany
  • Tien Yin Wong
    Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore
    Ophthalmology & Visual Sciences Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore
  • Kenji Yamashiro
    Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan
  • Footnotes
    Commercial Relationships   Ching-Yu Cheng, None; Munemitsu Yoshikawa, None; Yih Chung Tham, None; Ya Xing Wang, None; Wanting Zhao, None; Yoshikatsu Hosoda, None; Fumihiko Matsuda, None; Yasuharu Tabara, None; Akitaka Tsujikawa, None; Chiea Chuen Khor, None; Tin Aung, None; Jost Jonas, None; Tien Wong, None; Kenji Yamashiro, None
  • Footnotes
    Support  NMRC/CIRG/1442/2016, NMRC/CIRG/1417/2015 and NMRC/CSA-SI/0012/2017
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 1817. doi:https://doi.org/
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      Ching-Yu Cheng, Munemitsu Yoshikawa, Yih Chung Tham, Ya Xing Wang, Wanting Zhao, Yoshikatsu Hosoda, Fumihiko Matsuda, Yasuharu Tabara, Akitaka Tsujikawa, Chiea Chuen Khor, Tin Aung, Jost B Jonas, Tien Yin Wong, Kenji Yamashiro; Meta-analysis of genome-wide association studies on retinal nerve fber layer thickness in multi-ethnic Asians. Invest. Ophthalmol. Vis. Sci. 2018;59(9):1817. doi: https://doi.org/.

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

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Abstract

Purpose : Glaucoma is the leading cause of irreversible blindness worldwide and is characterized by optic nerve degeneration. Retinal nerve fiber layer (RNFL) thickness measurement is an important clinical measurement used for diagnosis and monitoring of glaucoma. In this study, we conducted a meta-analysis of genome-wide association studies for RNFL in multi-ethnic Asian populations.

Methods : In this multi-ethnic meta-analysis, we enrolled 1,024 Malay, 1,406 Indian, 2,289 Chinese and 4,074 Japanese individuals, from 5 population-based studies across three countries, including Singapore Malay Eye Study, Singapore Indian Eye Study, Singapore Chinese Eye Study, Beijing Eye Study, and Nagahama Study. Peripapillary RNFL thickness was measured using spectral domain optical coherence tomography. Genome-wide genotyping was performed using Illumina Human610-Quad, OmniExpress, or HumanOmni2.5M arrays. Genotype imputation was performed using the 1000 Genomes Project as the reference panel. In each cohort, association analyses were first performed using linear regression model, with RNFL thickness as outcome, adjusting for age, gender axial length and the first 3 principal components of genetic ancestry. Fixed effect meta-analysis was then performed across study cohorts.

Results : We identified 3 genome-wide significant loci for average peripapillary RNFL thickness, including CDKN2B-AS1 (P = 5.96 x 10-9), ATOH7 (P = 3.13 x 10-8) and PBLD (P = 4.67 x 10-8). These 3 loci were previously reported to be associated with vertical cup-disc ratio, another important optic nerve parameter for glaucoma assessment. In addition, CDKN2B-AS1 was also reported to be a risk locus for primary open-angle glaucoma.

Conclusions : We discovered 3 loci significantly associated with RNFL thickness in Asian populations. These findings may provide further insights into the genetic architecture of glaucoma.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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