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Linkage Replication of the MYP12 Locus in Common Myopia

¹From Eye Research Australia, the ⁵Department of Physiology, and the ⁶Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, University of Melbourne, East Melbourne, Victoria, Australia; the ²Vision Cooperative Research Centre, Sydney, New South Wales, Australia; the ³Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia; and the ⁴Menzies Research Institute, University of Tasmania, Hobart, Australia.

PURPOSE. Myopia is a common disorder with a large public health impact. Although 12 myopia loci have been reported and heterogeneity for high myopia loci have been demonstrated, replication of high-myopia loci with a common myopia phenotype has not been successful. This study reports the successful replication of MYP12 in three large, multigenerational families with autosomal dominant (AD) common myopia (spherical equivalent [SphE] –0.50 D).

METHODS. These families contained 49 participants (35 affected). The average spherical equivalent was –2.76 D (range, –0.50 to –10.25 D), average axial length was 24.52 mm (range, 23.05–27.11 mm), and average keratometry was 43.21 D (range, 39.12–47.31 D). Only five individuals in the three families presented with myopia of SphE –6.00 D. Glaucoma, keratoconus, lenticonus, and dislocated lens were not present in any study participants. A genomewide scan was performed using a mapping set with 400 markers at 10 cM coverage. Merlin software was used for multipoint linkage analysis based on an AD model with a penetrance of 0.9 and disease allele frequency of 0.013.

RESULTS. Significant linkage with a multipoint parametric LOD score of 3.428 (P = 0.000035) and a multipoint nonparametric (Kong and Cox) LOD score of 2.37 (empiric P < 0.001) was obtained on 2q37.1, with a 1-LOD support interval that overlapped the previously reported MYP12 locus for high myopia.

CONCLUSIONS. This study provided evidence that some high-myopia loci may contribute to all degrees of myopia and indicated the likely location of a myopia gene for the low/moderate as well as the high form of myopia.

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