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Laboratory science
Clarifying the role of ATOH7 in glaucoma endophenotypes
  1. Cristina Venturini1,2,
  2. Abhishek Nag2,
  3. Pirro G Hysi2,
  4. Jie Jin Wang3,4,
  5. Tien Y Wong5,6,
  6. Paul R Healey7,
  7. Paul Mitchell4,7,
  8. Christopher J Hammond2,
  9. Ananth C Viswanathan8,9,
  10. Wellcome Trust Case Control Consortium 2, BMES GWAS Group
  1. 1UCL Institute of Ophthalmology, London, UK
  2. 2Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas’ Hospital, London, UK
  3. 3Department of Ophthalmology, Centre for Eye Research Australia (CERA), University of Melbourne, Melbourne, New South Wales, Australia
  4. 4Department of Ophthalmology, University of Sydney Centre for Vision Research, Sydney, New South Wales, Australia
  5. 5Department of Epidemiology and Public Health, National University of Singapore, Singapore, Singapore
  6. 6Singapore Eye Research Institute, Singapore, Singapore
  7. 7Department of Ophthalmology, University of Sydney, Sydney, New South Wales, Australia
  8. 8Glaucoma Service, Moorfields Eye Hospital, London, UK
  9. 9NIHR Biomedical Research Centre, Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK
  1. Correspondence to Ananth Viswanathan, Glaucoma Service, Moorfields Eye Hospital, London, England, UK, NIHR Biomedical Research Centre, Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, EC1V 2PD. UK; a.viswanathan{at}ucl.ac.uk

Abstract

Background/aims The ATOH7 gene has been previously associated with glaucoma and glaucoma-related traits, such as disc size and cup/disc ratio (CDR). CDR is an important part of the glaucoma phenotype, whereas the relationship between the disc size and the disease is not well understood. The aim of this study was to investigate whether ATOH7 is associated independently with CDR or merely with the size of the optic disc.

Method We carried out an association analysis for a candidate region, including ATOH7 for two populations: the Blue Mountains Eye Study and the TwinsUK cohort. We performed three linear regression models for (1) disc size adjusted on age, sex and intraocular pressure (IOP), (2) CDR adjusted on age, sex and IOP and (3) CDR adjusted on age, sex, IOP and disc size.

Results A strong signal was found at rs7916697 for disc size. This single nucleotide polymorphism (SNP) was also associated with CDR adjusted on age, sex and IOP.

However, this SNP was not associated with CDR when adjusted on age, sex, IOP and also disc size.

Conclusions This study finds that ATOH7 is associated with optic disc size but not independently with CDR.

https://doi.org/10.1136/bjophthalmol-2013-304080

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