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. 2009:15:722-30.
Epub 2009 Apr 10.

Fine mapping linkage analysis identifies a novel susceptibility locus for myopia on chromosome 2q37 adjacent to but not overlapping MYP12

Maria Schäche  1 , Christine Y Chen, Kelly Kathleen Pertile, Andrea Jane Richardson, Mohamed Dirani, Paul Mitchell, Paul Nigel Baird
Affiliations

Fine mapping linkage analysis identifies a novel susceptibility locus for myopia on chromosome 2q37 adjacent to but not overlapping MYP12

Maria Schäche et al. Mol Vis. 2009.

Abstract

Purpose: Myopia (shortsightedness) is one of the most common ocular conditions worldwide and results in blurred distance vision. It is a complex trait influenced by both genetic and environmental factors. We have previously reported linkage of myopia to a 13.01 cM region of chromosome 2q37 in three large multigenerational Australian families that initially overlapped with the known myopia locus, MYP12. The purpose of this study was to perform fine mapping of this region and identify single nucleotide polymorphisms (SNPs) associated with myopia.

Methods: Fine mapping linkage analysis was performed on three multigenerational families with common myopia to refine the previously mapped critical interval. SNPs in the region were also genotyped to assess for association with myopia using an independent case-control cohort.

Results: The disease interval was refined to a 1.83 cM region that is adjacent to rather than overlapping with the MYP12 locus. Subsequent sequencing of all known and hypothetical genes as well as an association study using an independent myopia case-control cohort showed suggestive but not statistically significant association to two intronic SNPs.

Conclusions: We have identified a novel locus for common myopia on chromosome 2q37.

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Figures

Figure 1
Figure 1
LOD Scores for the fine mapping linkage analysis on chromosome 2q37. Parametric (solid line) and nonparametric (dashed line) LOD scores are shown for the three GEM families (GEM0046, GEM0251, and GEM0206).
Figure 2
Figure 2
Haplotype analysis in the chromosome 2q37 linkage region for the three GEM families. Haplotype analysis in the chromosome 2q37 linkage region is shown for GEM0206 (A), GEM0046 (B), and GEM0251 (C).
Figure 3
Figure 3
Ideogram of human chromosome 2 showing the location of the newly fine mapped region relative to the original linkage region and MYP12. Fine mapping linkage analysis now clearly indicates that the region of interest is adjacent to but does not overlap MYP12.
See this image and copyright information in PMC

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References

    1. Wang Q, Klein BEK, Klein R, Moss SE. Refractive Status in the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 1994;35:4344–7. - PubMed
    1. He M, Huang W, Zheng Y, Huang L, Ellwein LB. Refractive error and visual impairment in school children in rural southern China. Ophthalmology. 2007;114:374–82. - PubMed
    1. Katz J, Tielsch JM, Sommer A. Prevalence and risk factors for refractive errors in an adult inner city population. Invest Ophthalmol Vis Sci. 1997;38:334–40. - PubMed
    1. Raju P, Ramesh SV, Arvind H, George R, Baskaran M, Paul PG, Kumaramanickavel G, McCarty C, Vijaya L. Prevalence of refractive errors in a rural South Indian population. Invest Ophthalmol Vis Sci. 2004;45:4268–72. - PubMed
    1. Saw SM, Gazzard G, Koh D, Farook M, Widjaja D, Lee J, Tan DTH. Prevalence rates of refractive errors in Sumatra, Indonesia. Invest Ophthalmol Vis Sci. 2002;43:3174–80. - PubMed

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