Eye Department, Eye and ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, China.
Ophthalmologica. 2012;228(2):123-9. doi: 10.1159/000338188. Epub 2012 Jun 29.
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.
病理性近视是一种可导致法律失明的屈光不正，在中国很常见。许多基因组座与病理性近视有关，但只有少数得到了验证。本研究进一步评估了 CTNND2 基因和 11q24.1 基因组区域的多态性与病理性近视的关联。这两个区域先前都与携带这种眼部疾病易感基因有关。对 321 名病理性近视患者和 310 名正常视力对照者的 CTNND2 和 11q21.1 基因组区域中的 24 个单核苷酸多态性（SNP）进行了基因分型和关联分析，使用基质辅助激光解吸/电离飞行时间质谱法。等位基因和基因型频率分析发现，位于 CTNND2 基因中的 SNP rs1479617 的变异分布在病理性近视组和对照组之间存在显著差异。11q24.1 中的连锁分析确定了与病理性近视独立相关的 2 个基因组块。在中国人群中，CTNND2 基因和 11q24.1 基因组区域的特定多态性与病理性近视显著相关，进一步支持这些基因组区域携带该疾病易感基因的观点。
