科研之友
微信
新浪微博
Facebook
分享链接
摘要
PURPOSE. The lumican gene (LUM) encodes a major extracellular component of the fibrous mammalian sclera. Alteration in the expression levels of extracellular matrix components may influence scleral shape, which in turn could affect visual acuity. Single-nucleotide polymorphisms (SNPs) in the LUM gene were determined in an investigation of whether LUM gene polymorphisms correlate with high myopia. METHODS. Sequences spanning all three exons, intron-exon boundaries, and promoter regions were determined in 50 normal individuals. Five SNPs were identified, one of which was found to be a newly identified polymorphism. Genomic DNA was prepared from peripheral blood obtained from 201 patients with high myopia and 86 control subjects. Genotypes of the SNPs -1554 T/C (rs3759223), -628 A/-(rs17018757), -59 CC/-(rs3832846), c. 601 T/C (rs17853500), and the novel SNP c. 1567 C>T were determined by polymerase chain reaction. RESULTS. Of the five SNPs, one showed a significant difference between patients and control subjects (c. 1567 C>T, P = 0.0016). Haplotype analysis revealed a significantly higher presence of polymorphisms in patients with myopia (P < 0.0001). Moreover, the c. 1567 T polymorphism was determined to have lower reporter gene activity than that of c. 1567 C. CONCLUSIONS. These observations suggest that LUM gene polymorphisms contribute to the development of high myopia. (Invest Ophthalmol Vis Sci. 2010; 51: 96-102) DOI: 10.1167/iovs.09-3612
- 出版日期2010-1
- 单位中国医科大学
