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P. N. Baird, J. Stankovich, K. J. Scurrah, P. Garoufalis, M. Dirani, K. K. Pertile, A. J. Richardson, C. Y. Chen; Linkage Replication of the MYP12 Locus in Common Myopia in the Genes in Myopia (GEM) Study. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4636.
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Myopia is a common disorder with a significant public health impact. While 12 myopia loci have so far been reported, the majority of these have been linked to the more extreme (high) forms of myopia. We wished to undertake linkage analysis using pedigrees that exhibited mild to severe myopia and collected as part of the genes in myopia (GEM) study.
Index cases (probands) with a spherical equivalent refraction of -0.50D or worse in both eyes and a positive family history of myopia were recruited through a Melbourne excimer laser clinic. All available family members of probands were recruited, given a full eye exam, undertook a medical questionnaire and donated a blood sample. DNA was extracted and a 10cM genomewide scan undertaken.
916 participants from 290 different pedigrees were recruited into the GEM study. Three of the largest pedigrees (with 35 affected individuals in total) were genotyped. Significant linkage with a parametric LOD score of 3.428 (p=0.000035) and a non-parametric LOD score of 2.37 was obtained on chromosome 2q37.1 with a 1 LOD support interval that overlapped the previously reported MYP12 locus for high myopia.
This study represents only the second replication of a myopia locus and indicates the likely location of a myopia gene for both low/moderate as well as high forms of myopia.
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