Association of the Lumican Gene Functional 3′-UTR Polymorphism with High Myopia
Association of the Lumican Gene Functional 3′-UTR Polymorphism with High Myopia
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DOI：
10.1167/iovs.09-3612
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发表时间：
2010-01-01
影响因子：
4.4
通讯作者：
Tsai, Fuu Jen
中科院分区：
文献类型：
--
作者：
Lin, Hui-Ju;Kung, Yung-Jen;Tsai, Fuu Jen
目的. Lumican基因（LUM）编码纤维性哺乳动物巩膜的主要细胞外组分。细胞外基质成分表达水平的改变可能会影响巩膜形状，进而影响视力。在LUM基因多态性是否与高度近视相关的调查中，确定LUM基因的单核苷酸多态性（SNPs）。序列跨越所有三个外显子，内含子-外显子边界，和启动子区确定在50个正常人。发现了5个SNP，其中一个是新发现的多态性。从201名高度近视患者和86名对照者的外周血中制备基因组DNA。SNP的基因型为-1554 T/C（rs3759223）、-628 A/-（rs 17018757）、-59 CC/-（rs3832846），c. 601 T/C（rs 17853500）和新SNP c.用聚合酶链反应测定1567 C>T。在五个SNP中，一个在患者和对照受试者之间显示出显著差异（c. 1567 C>T，P = 0.0016）。单倍型分析显示，近视患者的基因多态性显著高于对照组（P < 0.0001）。此外，C。1567 T多态性的报告基因活性低于c. 1567 C.结论。这些观察结果表明，LUM基因多态性有助于高度近视的发展。（Invest Ophthalmol维斯科学。2010; 51：96-102）DOI：10.1167/iovs.09-3612
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