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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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© ARVO (1962-2015); The Authors (2016-present)
To estimate heritability and locate quantitative trait loci influencing axial length as an endophenotype of refractive error using a classic twin study.
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.
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).
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.
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