Linkage replication of the MYP12 locus in common myopia

Chen, CY; Stankovich, J; Scurrah, KJ; Garoufalis, P; Dirani, M; Pertile, KK; Richardson, AJ; Baird, PN

Author(s): Chen, CY; Stankovich, J; Scurrah, KJ; Garoufalis, P; Dirani, M; Pertile, KK; Richardson, AJ; Baird, PN;
Details: Publication Year 2007-10,Volume 48,Issue #10,Page 4433-4439
Journal Title: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Publication Type: Journal Article
Abstract: 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 similar to 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 non-parametric (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.
Publisher: ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Keywords: OCULAR REFRACTION; PARENTAL MYOPIA; CHROMOSOME 18P; MAPS; POPULATION; PREVALENCE; GENES; ERROR; SCAN; EYE
Publisher's Version: https://doi.org/10.1167/iovs.06-1188
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2007-10-01 12:00:00