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A more recent version of this article appeared on September 1, 2008
 (Investigative Ophthalmology and Visual Science. )
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.07-1126
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Article

A Genome-wide Scan Maps a Novel High Myopia Locus to 5p15

Ching Yan Lam 1, Pancy O.S. Tam 1, Dorothy S.P. Fan 2, Bao Jian Fan 3, Dan Yi Wang 3, Coral W.S. Lee 1, Chi-Pui Pang 4, and Dennis S.C. Lam 2*

1 Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong
2 Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong
3 Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States
4 Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China

* To whom correspondence should be addressed. E-mail: dennislam_pub{at}cuhk.edu.hk.


  Abstract

Purpose: This study investigated the genetic component of three Chinese pedigrees originating from Hong Kong with autosomal dominant high myopia. Methods: Whole genome scan was performed by using microsatellite marker spanning the whole genome with an average spacing of 10cM. Regions containing markers that yielded LOD scores > 1.0 were further analyzed by fine mapping with additional microsatellite markers. A fine scale mapping of the linkage region was performed by genotyping a set of gene-based SNP markers on a cohort of 94 high myopia cases and 94 control subjects. Results: Two point LOD score > 1 were observed at markers D5S630, D5S416, D7S510, D11S908 and D17S944. Additional microsatellite markers flanking the D5S630 revealed a maximum two point LOD score of 4.81 at D5S2505 at {theta}=0.00. Haplotype analysis narrowed the linkage region to 5p15.33-p15.2 with a 17.45cM interval. Coding sequences of 5 genes located within this region, IRX2, IRX1, POLS, CCT5 and CTNND2, were screened. No segregation of polymorphism with high myopia was found. Genotyping of 41 SNPs within this region in a Chinese cohort of 94 high myopia cases and 94 control subjects showed that the allele and genotypes distributions of one SNP, rs370010, was different between cases and controls (genotype P=0.01176, allele P=0.00271 and trend P=0.00375), but such association did not remain significant after FDR correction. This SNP is located within a hypothetical gene LOC442129. However, Conclusions: A novel autosomal dominant high myopia locus was mapped on chromosome 5p15.33-p15.2 with an interval of 17.45cM.

Key Words: locus 5p15, high myopia, genome wide scan




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