Heritability of refractive value and ocular biometrics

Abstract

The aim of this work was to analyse genetic influences on ocular refractive value and axial length using the hypothesis of a polygenic control. The genealogical records of 55 families were used in the analyses. The cohort included 723 individuals and clinical data were collected for 445 individuals with a mean age of 37.86years. Ocular refraction was determined by standard autorefractometry. Axial length was evaluated by scan ultrasonography. Gender, age and ethnic origin were included as covariates in the statistical analyses. Using variance component analysis via a Markov Chain Monte Carlo (MCMC) method, we estimated the heritability of refractive value and axial length in the pedigree. We then performed a segregation analysis, using Loki, a (MCMC) linkage analysis program for multilocus inheritance models, examining different inheritance models with polygenic components. Polygenic control was modelled under an additive infinitesimal model (which assumes infinite loci with small effects, with additive actions) and under a finite locus model (i.e. several causal loci). The estimates of heritability were 0.20 (95% confidence interval (CI) 0.04–0.36) for refractive value and 0.20 (95% CI 0.03–0.43) for axial length. Segregation analyses suggested that ocular refraction and axial length are under a polygenic control. A finite number of genes were identified with or without a polygenic, infinitesimal component. Ocular refraction is mildly-moderately heritable in the studied population.