June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Genome-wide association analyses identify novel loci influencing age-at-onset of glaucoma
Author Affiliations & Notes
  • Marion Chiariglione
    Department of Ophthalmology and Visual Sciences, The Ohio State University, Columbus, Ohio, United States
  • David Reed
    Department of Ophthalmology and Visual Sciences, The Ohio State University, Columbus, Ohio, United States
  • Sayoko E Moroi
    Department of Ophthalmology and Visual Sciences, The Ohio State University, Columbus, Ohio, United States
  • Xiaoyi Raymond Gao
    Department of Ophthalmology and Visual Sciences, The Ohio State University, Columbus, Ohio, United States
    Department of Biomedical Informatics and Division of Human Genetics, The Ohio State University, Columbus, Ohio, United States
  • Footnotes
    Commercial Relationships   Marion Chiariglione, None; David Reed, None; Sayoko Moroi, Wolters Kluwer Health (R); Xiaoyi Gao, None
  • Footnotes
    Support  NIH Grant R01EY027315
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 1592. doi:
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    • Get Citation

      Marion Chiariglione, David Reed, Sayoko E Moroi, Xiaoyi Raymond Gao; Genome-wide association analyses identify novel loci influencing age-at-onset of glaucoma. Invest. Ophthalmol. Vis. Sci. 2021;62(8):1592.

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

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Abstract

Purpose : Glaucoma is an insidious, asymptomatic and progressive eye disease that damages the optic nerve, and is one of the leading causes of blindness worldwide. People over the age of 60 are at highest risk, but it can occur in younger adults as well. Our research aims to identify novel loci influencing the age-at-onset (AAO) of glaucoma. Previous studies have identified susceptibility genes for glaucoma, i.e. those associated with glaucoma as a binary trait. Here, we examine a large dataset to identify specific genes that might influence the variation of AAO of glaucoma.

Methods : With large amounts of data available from the UK Biobank, a cohort of half a million individuals, we selected participants of European ancestry that presented with AAO for glaucoma as a case-only design study (n = 13,000). Over 800,000 genotyped and 92 million imputed single nucleotide polymorphisms were available in the dataset. We used Bayesian mixed-model association analysis (BOLT-LMM) to test for associations between the AAO and genotypes. Genetic variants withP< 5 x 10-8were declared genome-wide significant.

Results : We identified two novel associations to AAO on chromosomes 9 and 18. SNPs rs7866318 at GLIS3and rs72899117 at LINC01477 both show significant association with AAO of glaucoma, P= 2.4x 10-8and P= 1.4x 10-8respectively. Mutations in GLIS3 (GLI-similar zinc finger protein family, chr9), which encodes a protein involved in the development of the eye, have been previously associated with many diseases, such as neonatal diabetes, congenital hypothyroidism, Alzheimer’s, and congenital glaucoma. LINC01477 (Long Intergenic Non-Protein Coding RNA 1477, chr18) has no known associated eye disorders, but it has been associated with mathematical ability and intelligence.

Conclusions : These discoveries further our understanding of the genetic loci influencing AAO of glaucoma, and shed new light on the biological processes underlying glaucoma.

This is a 2021 ARVO Annual Meeting abstract.

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