title: Absence of an association between lumican promoter variants and high myopia in the Korean population.
abstract: OBJECTIVE
  To determine the association of single nucleotide polymorphisms (SNPs) in the promoter region of the lumican (LUM) gene with high myopic Korean patients.
  
  
  METHODS
  Genomic DNA samples were obtained from 128 unrelated Korean patients with high myopia who had refractive errors ≤ -9.25 and axial lengths ≥ 26.5 mm in both eyes, and 235 control subjects. We investigated two promoter SNPs of the LUM gene.
  
  
  RESULTS
  For the rs3759222, the C/C genotype was less prevalent in the high myopia group compared to the control group (46.1% vs. 53.2%); however, there was no statistical significance (p = 0.068, OR = 0.754, 95% CI: 0.491-1.159). The "C" allele frequency in the high myopia group (68.0%) was slightly lower than the control group (72.6%), but this difference was not statistically significant (p = 0.061, OR = 0.810, 95% CI:0.582-1.126). For the rs3759223, the genotype frequencies of T/T, T/C, and C/C were 67.2%, 26.6%, and 6.2%, respectively, in the high myopia group and 64.7%, 30.6%, and 4.7 %, respectively, in the control group. The allele frequency of T was 80.5% in the high myopia group and 80.0% in the control group (p = 0.077, OR = 1.03, 95% CI: 0.703-1.508). There were no significant differences in the distribution of genotype and allele frequencies for the two promoter SNPs tested.
  
  
  CONCLUSIONS
  The current study did not support an association between the promoter SNPs of the LUM gene with high myopia in the Korean population.
authors.affiliation: Department of Ophthalmology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Shin Hae
authors.initials: SH
authors.lastname: Park
authors.forename: Jeewon
authors.initials: J
authors.lastname: Mok
authors.forename: Choun-Ki
authors.initials: CK
authors.lastname: Joo
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D011508:Chondroitin Sulfate Proteoglycans / Q000235:genetics*; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007632:Keratan Sulfate / Q000235:genetics*; D007723:Korea; D000071234:Lumican; D008297:Male; D047728:Myopia, Degenerative / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D017422:Sequence Analysis, DNA; D014792:Visual Acuity
chemical_list: D011508:Chondroitin Sulfate Proteoglycans; D017931:DNA Primers; C000604306:LUM protein, human; D000071234:Lumican; D007632:Keratan Sulfate