June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
Genome-wide Association Study of Primary Angle Closure Glaucoma Quantitative Traits
Author Affiliations & Notes
  • Monisha Esther Nongpiur
    Glaucoma, Singapore Eye Research Inst, Singapore, Singapore
    Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  • Chiea Chuen Khor
    Genome Institute of Singapore, Singapore, Singapore
    Centre for Molecular Epidemiology, National University of Singapore, Singapore, Singapore
  • Ya Xing Wang
    Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Beijing, China
  • Jost B Jonas
    Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University, Heidelberg, Germany
  • Ching-Yu Cheng
    Glaucoma, Singapore Eye Research Inst, Singapore, Singapore
    Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  • Yik-Ying Teo
    Genome Institute of Singapore, Singapore, Singapore
    Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore
  • Liang Xu
    Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Beijing, China
  • Tien Yin Wong
    Glaucoma, Singapore Eye Research Inst, Singapore, Singapore
    Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  • Eranga Nishanthie Vithana
    Glaucoma, Singapore Eye Research Inst, Singapore, Singapore
    Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  • Tin Aung
    Glaucoma, Singapore Eye Research Inst, Singapore, Singapore
    Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  • Footnotes
    Commercial Relationships Monisha Nongpiur, None; Chiea Chuen Khor, None; Ya Xing Wang, None; Jost Jonas, None; Ching-Yu Cheng, None; Yik-Ying Teo, None; Liang Xu, None; Tien Wong, None; Eranga Vithana, None; Tin Aung, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 5010. doi:https://doi.org/
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      Monisha Esther Nongpiur, Chiea Chuen Khor, Ya Xing Wang, Jost B Jonas, Ching-Yu Cheng, Yik-Ying Teo, Liang Xu, Tien Yin Wong, Eranga Nishanthie Vithana, Tin Aung; Genome-wide Association Study of Primary Angle Closure Glaucoma Quantitative Traits. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):5010. doi: https://doi.org/.

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

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Abstract

Purpose: A susceptible locus for primary angle closure glaucoma (PACG) was recently identified through the analysis of one of its quantitative traits, the anterior chamber depth. The purpose of this study is to identify the genetic determinants of other PACG-related quantitative traits, namely anterior vault (AV) and anterior chamber width (ACW), derived from anterior segment optical coherence tomography (ASOCT).

Methods: Customized software (Zhongshan Angle Assessment Program, Guangzhou, China) was used to measure ACW and AV from horizontal ASOCT scans of subjects from four population based samples namely Singapore Malay Eye Study (SiMES), Singapore Indian Eye Study (SINDI), Singapore Chinese Eye Study (SCES) and the Beijing Eye Study (BES). ACW was defined as the distance between the scleral spurs; and AV as the perpendicular distance between the corneal endothelium and the ACW. Pseudophakc or aphakic eyes were excluded. Genotyping was done using the Illumina Human 610Quad BeadChips.

Results: After quality checks, 1371 SCES, 782 SINDI, 590 SiMES and 729 BES samples remained with both genotype and ASOCT data; and these were evaluated for the association between the traits and individual SNP genotypes using linear regression, modeling for a trend-per-copy effect on the minor allele. Meta-analysis of ACW data in the four sample collections (overall N=3472) revealed several regions showing promising SNPs of borderline significance, with the most significant associations being at a locus on chromosome 1q43, an intergenic region (Pmeta = 1.16x10-6 β meta = 0.05mm per-copy of the minor allele, Phet=0.11); and another locus (Pmeta = 2.40x10-6 , β meta = -0.049mm per-copy of the minor allele, Phet=0.41) at a sequence variant on Chromosome 13q32.1. Meta-analysis of AV (overall N=3472) also identified several regions showing potential associations with AV, with the most significant being at a locus on chromosome 10q24.31 (Pmeta = 2.27x10-6 β meta =-0.02mm per-copy of the minor allele, Phet=0.17).

Conclusions: We identified several potential loci influencing ACW and AV using three ethnic Asian populations. Replication in additional independent cohorts is pending to identify the true association signals for ACW and AV.

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