title: Association of the lumican gene functional 3'-UTR polymorphism with high myopia.
abstract: OBJECTIVE
  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.
authors: Department of Ophthalmology, China Medical University Hospital, Taichung, Taiwan, Republic of China.
authors: Hui-Ju
authors: HJ
authors: Lin
authors: Yung-Jen
authors: YJ
authors: Kung
authors: Ying-Ju
authors: YJ
authors: Lin
authors: Jim J C
authors: JJ
authors: Sheu
authors: Bing-Hung
authors: BH
authors: Chen
authors: Yu-Ching
authors: YC
authors: Lan
authors: Chih-Ho
authors: CH
authors: Lai
authors: Yu-An
authors: YA
authors: Hsu
authors: Lei
authors: L
authors: Wan
authors: Fuu Jen
authors: FJ
authors: Tsai
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D011508:Chondroitin Sulfate Proteoglycans / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007438:Introns / Q000235:genetics; D007632:Keratan Sulfate / Q000235:genetics*; D015810:Linkage Disequilibrium; D000071234:Lumican; D008297:Male; D009216:Myopia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D020413:3' Untranslated Regions; D011508:Chondroitin Sulfate Proteoglycans; C000604306:LUM protein, human; D000071234:Lumican; D007632:Keratan Sulfate