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Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q


Zhu, G and Hewitt, AW and Ruddle, JB and Kearns, LS and Brown, SA and Mackinnon, JR and Chen, CY and Hammond, CJ and Craig, JE and Montgomery, GW and Martin, NG and Mackey, DA, Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q, Ophthalmology, 115, (6) pp. 1053-1057. ISSN 0161-6420 (2008) [Refereed Article]

DOI: doi:10.1016/j.optha.2007.08.013


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 the 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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:52926
Year Published:2008
Web of Science® Times Cited:38
Deposited By:Medicine
Deposited On:2008-10-13
Last Modified:2016-11-30

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