Association Analysis of Polymorphisms in Lumican Gene and Systemic Lupus Erythematosus in a Taiwan Chinese Han Population

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. (First Release Sept 1 2011; J Rheumatol 2011;38:2376-81; doi:10.3899/jrheum.101310)