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Dong-Hui Lim, Gyule Han, Eui-Sang Chung, Tae-Young Chung; Heritability of Ocular and Corneal Higher Order Aberrations in Koreans: The Healthy Twin Study. Invest. Ophthalmol. Vis. Sci. 2014;55(13):4508.
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To estimate the genetic influences of ocular and corneal higher-order aberrations (HoAs) among different family types in the Korean population
This is a family-based cohort study. We studied 1,233 adults in the Healthy Twin Study, who underwent ophthalmologic examinations at Samsung Medical Center from 2007 to 2011. Ocular aberrations were measured by wavefront aberrometer (WASCA, Carl Zeiss Meditec) and corneal aberrations were computed using conversion software (VOLCT, Sarver & Associates) from corneal height data of corneal topography (Orbscan IIz; Bausch & Lomb). Variance-components model in the Seuquential Oligogenic Linkage Analysis Routines (SOLAR) software package were applied to estimate the genetic contributions to HoAs as heritability, adjusting for age and sex. Narrow sense heritability was calculated as the proportion of the total phenotypic variance explained by additive genetic effects. To see the degree of relatedness among different types of family relationships, intraclass correlation coefficients (ICC) were calculated.
A total of 264 monozygotic twin pairs, 50 dizygotic twin pairs, and 711 singleton adult family members who were first-degree relatives of twins in 356 families were included. All ocular HoAs showed significant differences among age groups other than horizontal coma (P < 0.0001). For corneal HoAs, coma and trefoil showed significant differences among age groups (P < 0.05). The estimated narrow sense heritability (95% confidence interval, CI) of spherical aberrations (SA) showed 0.75 (0.06) with the highest estimates among ocular HoAs. For more than half of corneal HoAs, the narrow sense heritability estimates were not significant. The ICCs of SA from monozygotic (MZ) twins, pooled first-degree pairs, and spouse pairs were 0.64, 0.14, and 0.27, respectively, which were highly heritable among ocular HoAs. For horizontal coma, which were highly heritable among corneal HoAs, the ICCs from MZ twin pairs, pooled first degree pairs, and spouse pairs were 0.44, 0.10 and 0.00, respectively.
Ocular and corneal HoAs showed a tendency to increase with age in the Korean population. Ocular HoAs were moderately heritable, particularly SA showed the highest estimates. Corneal HoAs showed high unique environment effects. This is the first population based cohort study to investigate the heritability of ocular and corneal HoAs.
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