Association of TBX21 gene haplotypes in a Chinese population with systemic lupus erythematosus.

Objective: T-cell-specific T-box transcription factor (T-bet) is a member of the T-box family of transcription factors regulating type 1 T-helper (Th1) cell development and is thought to be linked with several autoimmune diseases including systemic lupus erythematosus (SLE). The aim of this study was to evaluate whether T-bet gene ( TBX21) polymorphisms or its haplotypes are associated with SLE in a Chinese population. Methods: The study included 248 cases with SLE and 261 gender- and age-matched healthy controls. The polymorphisms T-1993C (rs4794067) and T-1514C (rs17250932) in the TBX21 promoter were identified by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results: The frequency of both the -1993T and the -1514T allele were significantly higher in SLE patients than in controls. By haplotype analysis, there was significantly decreased frequency of the haplotype at positions -1993C/-1514C in the case group compared with the control group (p = 0.0002). Multifactorial logistic regression analysis showed that individuals with CC/CC haplotype homozygotes had a decreased susceptibility to SLE [p = 0.0004, odds ratio (OR) 0.316, 95% confidence interval (CI) 0.167–0.599]. Conclusion: Our results suggest that the -1993C/-1514C haplotype may be a protective factor for genetic susceptibility to SLE in the Chinese population. [ABSTRACT FROM AUTHOR]