Pathological myopia is a refractive error that can result in legal blindness and is prevalent in China. A number of genomic loci have been associated with pathological myopia, but only a few have been validated. This study further evaluated the association of polymorphisms in the CTNND2 gene and the 11q24.1 genomic region with pathological myopia. Both regions had previously been implicated in carrying susceptibility genes for this eye disorder. Genotypic and association analyses were performed on 24 single-nucleotide polymorphisms (SNPs) in the CTNND2 and 11q21.1 genomic regions of 321 subjects with pathological myopia and 310 control subjects with normal vision using matrix-assisted laser desorption/ionization-time of flight mass spectrometry. Allele and genotype frequency analyses found that the distribution of variants of the SNP rs1479617 located in the CTNND2 gene significantly differed between the pathological myopia and control groups. Haplotype linkage analysis identified 2 genomic blocks in 11q24.1 that were independently associated with pathological myopia. Specific polymorphisms in the CTNND2 gene and 11q24.1 genomic region were found to be significantly associated with pathological myopia in this Chinese population, further supporting the idea that these genomic regions carry susceptibility loci for this disease.

Keywords:
Pathological myopia, CTNND2 gene, 11q24.1 genomic region, Single-nucleotide polymorphism, Association analysis
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2012
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