April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Genome Wide Analysis Identifies Putative Loci Associated With Interpupillary Distance
Author Affiliations & Notes
  • S. E. Staffieri
    University of Melbourne Dept of Ophthal, Centre for Eye Research Australia, East Melbourne, Australia
  • J. B. Ruddle
    University of Melbourne Dept of Ophthal, Centre for Eye Research Australia, East Melbourne, Australia
    Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
  • A. W. Hewitt
    University of Melbourne Dept of Ophthal, Centre for Eye Research Australia, East Melbourne, Australia
    Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
  • L. S. Kearns
    University of Melbourne Dept of Ophthal, Centre for Eye Research Australia, East Melbourne, Australia
  • P. G. Sanfilippo
    University of Melbourne Dept of Ophthal, Centre for Eye Research Australia, East Melbourne, Australia
  • S. MacGregor
    Genetics and Population Health, Queensland Institute for Medical Research, Brisbane, Australia
  • N. G. Martin
    Genetics and Population Health, Queensland Institute for Medical Research, Brisbane, Australia
  • T. L. Young
    Duke Center for Human Genetics, Durham, North Carolina
  • C. J. Hammond
    Twin Research & Genetic Epidemiology, Kings College London, London, United Kingdom
  • D. A. Mackey
    University of Melbourne Dept of Ophthal, Centre for Eye Research Australia, East Melbourne, Australia
    Centre for Ophthalmology and Visual Sciences, Lion's Eye Institute, University of Western Australia, Perth, Australia
  • Footnotes
    Commercial Relationships  S.E. Staffieri, None; J.B. Ruddle, None; A.W. Hewitt, None; L.S. Kearns, None; P.G. Sanfilippo, None; S. MacGregor, None; N.G. Martin, None; T.L. Young, None; C.J. Hammond, None; D.A. Mackey, Pfizer Australia Research Fellowship, F.
  • Footnotes
    Support  NHMRC, NIH RO1EY018246-01, American Health Assistance Foundation, Peggy and Leslie Cranbourne Foundation, Clifford Craig Medical Research Trust, Ophthalmic Research Institute of Australia
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 1649. doi:
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      S. E. Staffieri, J. B. Ruddle, A. W. Hewitt, L. S. Kearns, P. G. Sanfilippo, S. MacGregor, N. G. Martin, T. L. Young, C. J. Hammond, D. A. Mackey; Genome Wide Analysis Identifies Putative Loci Associated With Interpupillary Distance. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1649.

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

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Abstract

Purpose: : Interpupillary distance (IPD) is the clinical parameter marking the distance between the globes. Its measurement is essential in areas such as dysmorphology, spectacle lens fitting and design of instrument eyepieces. In this study we performed a genome wide association study of IPD.

Methods: : A total of 1880 participants from 919 families were recruited from the Twin Eye Study in Tasmania and the Brisbane Adolescent Twin Study. As part of a comprehensive ophthalmic examination, IPD was measured using the Humphrey-598 auto-refractor during pre-cycloplegic and post-cycloplegic refractions. Subjects were excluded if their repeat measurements differed by >4mm. DNA was extracted from peripheral blood or saliva samples and genotyping was performed using the Illumina HumanHap 610W Quad arrays (Illumina Inc., San Diego, USA). Following quality control and imputation, data for the 2.74 million HapMap SNPs were available. Association analysis was performed using Merlin to account for the relatedness of individuals.

Results: : The mean IPD in our cohort was 61.0±3.8mm (range 44-74mm) and approximated a normal distribution. Structural equation modelling revealed the heritability of IPD is approximately 0.47. Following genome-wide association, suggestive association (p<10-6) was found for five novel loci. Interestingly, deletion of a gene at one of these putative regions has been previously found to cause a syndromic form of hypertelorism.

Conclusions: : In this study of Australian twins, several genetic loci associated with interpupillary distance were identified and following replication, these findings may have future importance in morphology.

Keywords: genetics • orbit • anatomy 
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