May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Genetic Influence on Intraocular Pressure: The Twins Eye Study in Tasmania
L.S. Kearns; J.R. MacKinnon; A.W. Hewitt; S. Shekar; S.A. Brown; J.L. Pouslen; C.J. Hammond; O. Bigault; N.G. Martin; D.A. Mackey
Author Affiliations & Notes
  • L.S. Kearns
    Clinical Genetics Unit, Eye Research Australia, East Melbourne, Australia
    Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
  • J.R. MacKinnon
    Ophthalmology, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland, United Kingdom
  • A.W. Hewitt
    Ophthalmology, Flinders University, Adelaide, Australia
  • S. Shekar
    Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
  • S.A. Brown
    Menzies Institute, University of Tasmania, Hobart, Australia
    RANZCO Eye Foundation, Surry Hills, Australia
  • J.L. Pouslen
    Clinical Genetics Unit, Eye Research Australia, East Melbourne, Australia
    Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
  • C.J. Hammond
    Twin Research and Genetic Epidemiology Unit, St. Thomas' Hospital, London, United Kingdom.
  • O. Bigault
    Clinical Genetics Unit, Eye Research Australia, East Melbourne, Australia
  • N.G. Martin
    Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
  • D.A. Mackey
    Clinical Genetics Unit, Eye Research Australia, East Melbourne, Australia
    Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
  • Footnotes
    Commercial Relationships  L.S. Kearns, None; J.R. MacKinnon, None; A.W. Hewitt, None; S. Shekar, None; S.A. Brown, None; J.L. Pouslen, None; C.J. Hammond, None; O. Bigault, None; N.G. Martin, None; D.A. Mackey, Pfizer Australia Grant, F.
  • Footnotes
    Support  Clifford Craig Medical Research Trust, The Ophthalmic Research Institute of Australia, The NHMRC grant #350415.
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 178. doi:
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      L.S. Kearns, J.R. MacKinnon, A.W. Hewitt, S. Shekar, S.A. Brown, J.L. Pouslen, C.J. Hammond, O. Bigault, N.G. Martin, D.A. Mackey; Genetic Influence on Intraocular Pressure: The Twins Eye Study in Tasmania . Invest. Ophthalmol. Vis. Sci. 2006;47(13):178.

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Abstract

Purpose: : Elevated intraocular pressure (IOP) is an important risk factor for open–angle glaucoma and reducing IOP is associated with a reduction in the rate of visual field progression. The aim of this study was to examine the heritability and associations of IOP in the general population.

Methods: : A classical twin study design was adopted. Participants, who were recruited through the Twins Eye Study in Tasmania, underwent ocular phenotyping. IOP was measured either using a tonopen or Goldmann applanation tonometry. Covariance of IOP was compared between monozygotic (MZ) and dizygotic (DZ) twins. Best–fit structural equation modelling was performed using the Mx program.

Results: : In total 148 MZ twin pairs and 182 DZ twin pairs with a mean age of 22.1 ± 17.6 years, were examined. The mean ± SD IOP across all MZ twins was 15.5 ± 3.1 and did not significantly differ to that of DZ twins (15.8 ± 3.1; p=0.21). The maximum likelihood estimate of Pearson’s correlation coefficient for IOP was 0.57 (95%CI: 0.45–0.66) in the MZ twin pairs and 0.40 (95%CI: 0.27–0.51) in the DZ twin pairs. The best–fitting model adjusting for tonometry method, was one where additive genetic effects accounted for 34.1% (95%CI: 3.7–63.6%) of the variation, whilst common and unique environmental effects accounted for 22.7% (95%CI: 0.0–46.3%) and 43.2% (95%CI:34.0–54.9%) of the variance respectively. IOP was positively associated with central corneal thickness (CCT) (R2=0.0296, p=0.0005) and negatively associated with time of day (R2=0.0112, p=0.0116) and axial length (R2=0.0166, p=0.0098). There was a significant difference in CCT covariance between opposite sex twin pairs and same sex twin pairs.

Conclusions: : The estimated heritability for IOP in this study is similar to previous family based studies. Dominant genetic effects may be a source of variation, however, this cohort comprised of twins reared together and it was not possible to estimate this concurrently with common environmental effects.

Keywords: genetics • intraocular pressure • clinical (human) or epidemiologic studies: natural history 
© 2006, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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