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S. E. Staffieri, J. B. Ruddle, A. W. Hewitt, L. S. Kearns, P. G. Sanfilippo, S. MacGregor, N. G. Martin, T. L. Young, C. J. Hammond, D. A. Mackey; Genome Wide Analysis Identifies Putative Loci Associated With Interpupillary Distance. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1649.
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Interpupillary distance (IPD) is the clinical parameter marking the distance between the globes. Its measurement is essential in areas such as dysmorphology, spectacle lens fitting and design of instrument eyepieces. In this study we performed a genome wide association study of IPD.
A total of 1880 participants from 919 families were recruited from the Twin Eye Study in Tasmania and the Brisbane Adolescent Twin Study. As part of a comprehensive ophthalmic examination, IPD was measured using the Humphrey-598 auto-refractor during pre-cycloplegic and post-cycloplegic refractions. Subjects were excluded if their repeat measurements differed by >4mm. DNA was extracted from peripheral blood or saliva samples and genotyping was performed using the Illumina HumanHap 610W Quad arrays (Illumina Inc., San Diego, USA). Following quality control and imputation, data for the 2.74 million HapMap SNPs were available. Association analysis was performed using Merlin to account for the relatedness of individuals.
The mean IPD in our cohort was 61.0±3.8mm (range 44-74mm) and approximated a normal distribution. Structural equation modelling revealed the heritability of IPD is approximately 0.47. Following genome-wide association, suggestive association (p<10-6) was found for five novel loci. Interestingly, deletion of a gene at one of these putative regions has been previously found to cause a syndromic form of hypertelorism.
In this study of Australian twins, several genetic loci associated with interpupillary distance were identified and following replication, these findings may have future importance in morphology.
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