May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Endophenotypes to Tackle Complex Genetic Diseases: Axial Length vs. Refraction in the Twins Eye Study
D. A. Mackey; G. Zhu; A. W. Hewitt; J. B. Ruddle; L. S. Kearns; S. A. Brown; C. Y. Chen; C. J. Hammond; J. E. Craig; N. G. Martin
Author Affiliations & Notes
  • D. A. Mackey
    Ophthalmology, University of Melbourne, East Melbourne, Australia
  • G. Zhu
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia
  • A. W. Hewitt
    Ophthalmology, Flinders University, Adelaide, Australia
  • J. B. Ruddle
    Ophthalmology, University of Melbourne, East Melbourne, Australia
  • L. S. Kearns
    Ophthalmology, University of Melbourne, East Melbourne, Australia
  • S. A. Brown
    Ophthalmology, University of Melbourne, East Melbourne, Australia
  • C. Y. Chen
    Ophthalmology, University of Melbourne, East Melbourne, Australia
  • C. J. Hammond
    Twin Research and Genetic Epidemiology Unit, St. Thomas’ Hospital, London, United Kingdom
  • J. E. Craig
    Ophthalmology, Flinders University, Adelaide, Australia
  • N. G. Martin
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia
  • Footnotes
    Commercial Relationships  D.A. Mackey, Pfizer Australia Fellowship, F; G. Zhu, None; A.W. Hewitt, None; J.B. Ruddle, None; L.S. Kearns, None; S.A. Brown, None; C.Y. Chen, None; C.J. Hammond, None; J.E. Craig, None; N.G. Martin, None.
  • Footnotes
    Support  American Health Assistance Foundation, Australian NHMRC, ORIA, Glaucoma Australia, Australian Twin Registry
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 5423. doi:
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      D. A. Mackey, G. Zhu, A. W. Hewitt, J. B. Ruddle, L. S. Kearns, S. A. Brown, C. Y. Chen, C. J. Hammond, J. E. Craig, N. G. Martin; Endophenotypes to Tackle Complex Genetic Diseases: Axial Length vs. Refraction in the Twins Eye Study. Invest. Ophthalmol. Vis. Sci. 2008;49(13):5423.

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Abstract

Purpose: : To estimate heritability and locate quantitative trait loci influencing axial length as an endophenotype of refractive error using a classic twin study.

Methods: : 893 individuals from 460 families were recruited through the Twin Eye Study in Tasmania and Brisbane Adolescent Twin Study (BATS) and had ocular axial length measured. Structural equation modeling on the entire sample was used to estimate genetic and environmental components of variation in axial length. Analysis of existing microsatellite marker genomewide linkage scan data was performed on 318 individuals from 142 BATS families.

Results: : The heritability estimate for axial length, adjusted for age and sex, in the full sample was 0.81. The highest multipoint logarithm of the odds (LOD) score observed was 3.40 (genomewide P = 0.0004), on chromosome 5q. Additional regions with suggestive multipoint LOD scores were also identified on chromosome 6 (LOD scores, 2.13 and 2.05), chromosome 10 (LOD score, 2.03), and chromosome 14 (LOD score, 2.84).

Conclusions: : Axial length, a major endophenotype for refractive error, is highly heritable and is likely to be influenced by one or more genes on the long arm of chromosome 5.

Keywords: clinical (human) or epidemiologic studies: biostatistics/epidemiology methodology • myopia • gene mapping 
© 2008, 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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