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Christine Y. Chen, Jim Stankovich, Katrina J. Scurrah, Pam Garoufalis, Mohamed Dirani, Kelly K. Pertile, Andrea J. Richardson, Paul N. Baird; Linkage Replication of the MYP12 Locus in Common Myopia. Invest. Ophthalmol. Vis. Sci. 2007;48(10):4433-4439. doi: 10.1167/iovs.06-1188.
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© 2016 Association for Research in Vision and Ophthalmology.
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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