May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Linkage Replication of the MYP12 Locus in Common Myopia in the Genes in Myopia (GEM) Study
Author Affiliations & Notes
  • P. N. Baird
    Ctr for Eye Res-Australia, University of Melbourne, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • J. Stankovich
    Bioinformatics, Walter & Eliza Hall Institute of Medical Research, Parkville, Melbourne, Australia
    Menzies Research Institute, University of Tasmania, Hobart, Tasmania, Australia
  • K. J. Scurrah
    Physiology, University of Melbourne, Parkville, Melbourne, Australia
    Centre for Molecular, Environmental, Genetic and Analytical Epidemiology, University of Melbourne, Carlton, Melbourne, Australia
  • P. Garoufalis
    Ctr for Eye Res-Australia, University of Melbourne, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • M. Dirani
    Ctr for Eye Res-Australia, University of Melbourne, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • K. K. Pertile
    Ctr for Eye Res-Australia, University of Melbourne, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • A. J. Richardson
    Ctr for Eye Res-Australia, University of Melbourne, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • C. Y. Chen
    Ctr for Eye Res-Australia, University of Melbourne, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • Footnotes
    Commercial Relationships P.N. Baird, None; J. Stankovich, None; K.J. Scurrah, None; P. Garoufalis, None; M. Dirani, None; K.K. Pertile, None; A.J. Richardson, None; C.Y. Chen, None.
  • Footnotes
    Support This research was supported through the Australian Government Cooperative Research Centre Program
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 4636. doi:
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      P. N. Baird, J. Stankovich, K. J. Scurrah, P. Garoufalis, M. Dirani, K. K. Pertile, A. J. Richardson, C. Y. Chen; Linkage Replication of the MYP12 Locus in Common Myopia in the Genes in Myopia (GEM) Study. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4636.

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

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Abstract

Purpose:: Myopia is a common disorder with a significant public health impact. While 12 myopia loci have so far been reported, the majority of these have been linked to the more extreme (high) forms of myopia. We wished to undertake linkage analysis using pedigrees that exhibited mild to severe myopia and collected as part of the genes in myopia (GEM) study.

Methods:: Index cases (probands) with a spherical equivalent refraction of -0.50D or worse in both eyes and a positive family history of myopia were recruited through a Melbourne excimer laser clinic. All available family members of probands were recruited, given a full eye exam, undertook a medical questionnaire and donated a blood sample. DNA was extracted and a 10cM genomewide scan undertaken.

Results:: 916 participants from 290 different pedigrees were recruited into the GEM study. Three of the largest pedigrees (with 35 affected individuals in total) were genotyped. Significant linkage with a parametric LOD score of 3.428 (p=0.000035) and a non-parametric LOD score of 2.37 was obtained on chromosome 2q37.1 with a 1 LOD support interval that overlapped the previously reported MYP12 locus for high myopia.

Conclusions:: This study represents only the second replication of a myopia locus and indicates the likely location of a myopia gene for both low/moderate as well as high forms of myopia.

Keywords: myopia • linkage analysis • gene mapping 
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