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P.N. Baird, C.Y. Chen, P. Garoufalis, K.J. Scurrah, J. Stankovich, M. Dirani, H.R. Taylor; Genes in Myopia (GEM) Study: Heritability Estimates for Spherical Equivalent and Ocular Biometric Traits . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3262.
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To examine the heritability of Sperical Equivalent (SphE) and the important ocular biometric components that are associated with myopia: axial length, anterior chamber depth and corneal curvature in families collected through the Genes in Myopia (GEM) study in Australia.
290 myopic probands (SphE≤ –0.50D in both eyes) with a family history of myopia were recruited into this study. An additional 575 individuals recruited from the proband’s families were also examined. All individuals underwent a detailed eye examination including ocular biometric measurements using an IOL master, completed a risk factor questionnaire and had a blood sample taken. Univariate heritability estimates were derived using SOLAR 2.1 with proband ascertainment correction.
82 pedigrees (636 individuals) were available for this study. The pedigrees contained 3–38 family members with 1–18 myopic members. The mean age of subjects was 45 (range 5–92). The mean and SE of Spherical Equivalent (SphE) was –0.55D±0.13, axial length 25.76mm±0.12, anterior chamber depth 3.50mm±0.03 and corneal curvature 42.04D±0.18. The heritability estimates (±SE) for right SphE was 0.32±0.09, for right axial length was 0.61±0.09, for right anterior chamber depth was 0.28±0.10, and for right corneal curvature was 0.29±0.10. All heritability estimates differed significantly from zero.
There were significant heritable components of the variances of SphE, axial length, anterior chamber depth and corneal curvature. Furthermore axial length had the highest estimated heritability. We are currently assessing the impact on the heritabilities of these components allowing shared family environmental effects. Given the high correlation between axial length and SphE, further multivariate variance components modelling will be undertaken to explore the genetic relationships between various ocular biometric traits and SphE.
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