Exp Mol Med.  2009 Jan;41(1):33-41. 10.3858/emm.2009.41.1.005.

Association of TBX21 polymorphisms in a Korean population with rheumatoid arthritis

• Chae SC
• Shim SC
• Chung HT

• KMID: 756284
• DOI: http://doi.org/10.3858/emm.2009.41.1.005

Abstract

TBX21 (T-bet) is a member of the T-box family of transcriptional factors that contain a conserved DNA binding domain. TBX21 is a critical regulator of the commitment to the Th1 lineage and IFN-gamma production. Th1 and Th2 cells cross-regulate the differentiation of each other, and in this way TBX21 could be an attractive candidate gene for treating autoimmune disease such as rheumatoid arthritis (RA). In present study, we analyzed the genotypic frequencies of six polymorphisms of the TBX21 gene between the 367 RA patients and the 572 healthy controls. We showed that the g.-1514T>C and c.99C>G polymorphisms are suggestively associated with RA susceptibility. It is interesting that the genotypic frequencies of the TBX21 polymorphisms (g.-1514T>C and c.2103A>C) in the male RA patients were significantly different from the male control group (P = 0.0016 and 0.045, respectively). We also found that the g.-1514T>C and c.2103A>C polymorphisms of the TBX21 gene in the male RA patients have significant association with the levels of anti-CCP (P = 0.05) and rheumatoid factor (P = 0.03), respectively. These results suggest that the polymorphisms of the TBX21 gene might be associated with the susceptibility to male RA patients.

Keyword

cyclic citrullinated peptide; haplotypes; polymorphism, single nucleotide; rheumatoid arthritis; rheumatoid factor; T-box transcription factor TBX21

MeSH Terms

Adult
Alleles
Arthritis, Rheumatoid/*genetics
Asian Continental Ancestry Group/genetics
Female
Genotype
Humans
Male
Middle Aged
Peptides, Cyclic/analysis/immunology
*Polymorphism, Single Nucleotide
Rheumatoid Factor/analysis/immunology
Sex Factors
T-Box Domain Proteins/*genetics
Th1 Cells/cytology