title: Association analysis of polymorphisms in lumican gene and systemic lupus erythematosus in a Taiwan Chinese Han population.
abstract: OBJECTIVE
  Lumican (LUM) is predominantly localized in areas of pathological fibrosis. To determine whether polymorphisms in LUM gene are associated with development of systemic lupus erythematosus (SLE), we analyzed 2 single-nucleotide polymorphisms (SNP) of LUM in a Taiwan Chinese Han population.
  
  
  METHODS
  Participants included 168 patients with SLE and 192 age-matched controls in whom examinations had excluded SLE. Genotyping of -628 A/-(rs17018757) and c.1567 T/C polymorphisms in LUM were carried out in each patient and control using the polymerase chain reaction-restriction fragment-length polymorphism method, and validated by Taqman SNP genotyping assay. Data were correlated with the development of SLE and various clinical symptoms by chi-square analysis.
  
  
  RESULTS
  Frequencies of C/C genotype and the C allele at c.1567 T/C were significantly higher in patients than controls. Polymorphism at c.1567 C/T was found to be associated with arthritis and photosensitivity in patients with SLE, which are both connective tissue-related symptoms.
  
  
  CONCLUSIONS
  The c.1567 T/C polymorphism of LUM is related to the development and clinical symptoms of SLE.
authors: Department of Bioinformatics, and Department of Health and Nutrition Biotechnology, Asia University, Taichung, Taiwan.
authors: Pei-Chun
authors: PC
authors: Chang
authors: Yi
authors: Y
authors: Chen
authors: Ming-Tsong
authors: MT
authors: Lai
authors: Heng-Yuan
authors: HY
authors: Chang
authors: Chung-Ming
authors: CM
authors: Huang
authors: Hsin-Ping
authors: HP
authors: Liu
authors: Wei-Yong
authors: WY
authors: Lin
authors: Chih-Ho
authors: CH
authors: Lai
authors: Jim Jinn-Chyuan
authors: JJ
authors: Sheu
authors: Fuu-Jen
authors: FJ
authors: Tsai
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D011508:Chondroitin Sulfate Proteoglycans / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006801:Humans; D007632:Keratan Sulfate / Q000235:genetics*; D000071234:Lumican; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013624:Taiwan
chemical_list: D011508:Chondroitin Sulfate Proteoglycans; C000604306:LUM protein, human; D000071234:Lumican; D007632:Keratan Sulfate