Association analysis of polymorphisms in lumican gene and systemic lupus erythematosus in a Taiwan Chinese Han population

J Rheumatol. 2011 Nov;38(11):2376-81. doi: 10.3899/jrheum.101310. Epub 2011 Sep 1.

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.

Conclusion: The c.1567 T/C polymorphism of LUM is related to the development and clinical symptoms of SLE.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Case-Control Studies
  • Chondroitin Sulfate Proteoglycans / genetics*
  • Gene Frequency / genetics
  • Genetic Linkage / genetics
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Keratan Sulfate / genetics*
  • Lumican
  • Lupus Erythematosus, Systemic / ethnology*
  • Lupus Erythematosus, Systemic / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Taiwan

Substances

  • Chondroitin Sulfate Proteoglycans
  • LUM protein, human
  • Lumican
  • Keratan Sulfate