Genetic Dissection of Myopia Evidence for Linkage of Ocular Axial Length to Chromosome 5q

Zhu, Gu, Hewitt, Alex W., Ruddle, Jonathan B., Kearns, Lisa S., Brown, Shayne A., Mackinnon, Jane R., Chen, Christine Y., Hammond, Christopher J., Craig, Jamie E., Montgomery, Grant W., Martin, Nicholas G. and Mackey, David A. (2008) Genetic Dissection of Myopia Evidence for Linkage of Ocular Axial Length to Chromosome 5q. Ophthalmology, 115 6: 1053-1057. doi:10.1016/j.ophtha.2007.08.013

Author Zhu, Gu
Hewitt, Alex W.
Ruddle, Jonathan B.
Kearns, Lisa S.
Brown, Shayne A.
Mackinnon, Jane R.
Chen, Christine Y.
Hammond, Christopher J.
Craig, Jamie E.
Montgomery, Grant W.
Martin, Nicholas G.
Mackey, David A.
Title Genetic Dissection of Myopia Evidence for Linkage of Ocular Axial Length to Chromosome 5q
Journal name Ophthalmology   Check publisher's open access policy
ISSN 0161-6420
Publication date 2008-06
Year available 2007
Sub-type Article (original research)
DOI 10.1016/j.ophtha.2007.08.013
Volume 115
Issue 6
Start page 1053
End page 1057
Total pages 5
Editor A. P. Schachat
Place of publication Philadelphia, PA, United States
Publisher Elsevier
Collection year 2008
Language eng
Subject 321011 Medical Genetics
730107 Inherited diseases (incl. gene therapy)
Abstract PURPOSE: To estimate heritability and locate quantitative trait loci influencing axial length. DESIGN: Classic twin study of monozygotic and dizygotic twins reared together. PARTICIPANTS: Eight hundred ninety-three 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. METHODS: 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. MAIN OUTCOME MEASURE: Ocular axial length. 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 (at 98 centimorgans [cM]). Additional regions with suggestive multipoint LOD scores were also identified on chromosome 6 (LOD scores, 2.13 at 76 cM and 2.05 at 83 cM), chromosome 10 (LOD score, 2.03 at 131 cM), and chromosome 14 (LOD score, 2.84 at 97 cM). CONCLUSION: 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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

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Created: Mon, 03 Mar 2008, 11:32:12 EST