Y You1, W Zhao, S Chen, W Tan, Y Dan, F Hao, G Deng. 1. Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing, PR China.
Abstract
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.
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 SLEpatients 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.
Authors: Nicholas A Davis; Caleb A Lareau; Bill C White; Ahwan Pandey; Graham Wiley; Courtney G Montgomery; Patrick M Gaffney; B A McKinney Journal: Genet Epidemiol Date: 2013-06-05 Impact factor: 2.135