April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
Identification of a Novel Susceptibility Locus for Myopia on Chromosome 2q37 Reveals a Genetic Association of an Intergenic SNP With the Condition
M. Schache; C. Y. Chen; K. K. Pertile; P. Garoufalis; A. J. Richardson; P. N. Baird
Author Affiliations & Notes
  • M. Schache
    Centre for Eye Research Australia, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • C. Y. Chen
    Centre for Eye Research Australia, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • K. K. Pertile
    Centre for Eye Research Australia, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • P. Garoufalis
    Centre for Eye Research Australia, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • A. J. Richardson
    Centre for Eye Research Australia, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • P. N. Baird
    Centre for Eye Research Australia, East Melbourne, Australia
    Vision Cooperative Research Centre, Sydney, Australia
  • Footnotes
    Commercial Relationships  M. Schache, None; C.Y. Chen, None; K.K. Pertile, None; P. Garoufalis, None; A.J. Richardson, None; P.N. Baird, None.
  • Footnotes
    Support  Vision Cooperative Research Centre, Sydney, Australia
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 2314. doi:
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      M. Schache, C. Y. Chen, K. K. Pertile, P. Garoufalis, A. J. Richardson, P. N. Baird; Identification of a Novel Susceptibility Locus for Myopia on Chromosome 2q37 Reveals a Genetic Association of an Intergenic SNP With the Condition. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2314.

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Abstract

Purpose: : Myopia is a complex trait influenced by both genetic and environmental factors. To date, eighteen myopia susceptibility loci (MYP1-18) have been identified but no definitive gene has been pinpointed within these regions. This study reports on the methodological approach that we have taken to identify a novel locus for myopia on chromosome 2q37.

Methods: : Three large multigenerational families with autosomal dominant myopia were recruited into this study. Each consneting family member has undergone a comprehensive ophthalmic examination. Individuals with other eye diseases that may affect vision such as glaucoma and keratoconus have been excluded. Genome-wide genotyping was performed using 400 microsatellite markers spaced an average of 10 cM apart.

Results: : Linkage anlaysis was performed on the three families using DNA collected from 49 participants (35 affected). Using the software MERLIN a multipoint nonparametric LOD score of 3.43 was calculated on chromosome 2q37. Initial results suggested that this region overlapped with the MYP12 locus. However, further fine mapping and haplotype analysis narrowed the critical interval to a 0.8cM region that no longer overlaps MYP12. Hence, a novel locus for myopia has been identified on chromosome 2q37 between markers D2S1397 and D2S2968. Sequencing of all known and hypothetical genes in this region together with a comprehensive analysis of SNPs revealed a novel intergenic SNP associated with myopia.

Conclusions: : The linkage signal in this novel myopia locus is most likely explained by an intergenic SNP.

Keywords: myopia • gene mapping 
© 2009, 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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