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].


CONCLUSIONS
Our results suggest that the -1993C/-1514C haplotype may be a protective factor for genetic susceptibility to SLE in the Chinese population.
You
Y
Y
Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing, PR China.
Zhao
W
W
Chen
S
S
Tan
W
W
Dan
Y
Y
Hao
F
F
Deng
G
G
D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics; D012044:Regression Analysis; D020825:T-Box Domain Proteins / Q000235:genetics*; D000098815:T-bet Transcription Factor
D020825:T-Box Domain Proteins; D000098815:T-bet Transcription Factor