Association of TBX21 polymorphisms in a Korean population with rheumatoid arthritis

Chae, Soo Cheon; Shim, Seung Cheol; Chung, Hun Taeg

doi:10.3858/emm.2009.41.1.005

Cited by 29 publications

(25 citation statements)

References 31 publications

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“…This disease is arisen by the complex interaction between multiple genetic factors and environmental factors [8]. We previously suggested that the exon 4 variations of the Tim-1 gene [4], the eotaxin-3 polymorphisms [5] and the TBX21 polymorphism [6] are associated with RA susceptibility.…”

Section: Discussionmentioning

confidence: 99%

Association of Thymic Stromal Lymphopoietin Receptor (TSLPR) Polymorphisms with the Susceptibility of Rheumatoid Arthritis in a Korean Population

Yu¹,

Mo²,

Chae³

2013

Journal of Life Science

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Human thymic stromal lymphopoietin receptor (TSLPR) might play an important role in the development of inflammatory and allergic responses. We previously identified eleven single nucleotide polymorphisms (SNPs) and two variation sites in the TSLPR gene and showed that all the SNPs of the TSLPR gene are associated with susceptibility to atopic asthma. The present study aimed to investigate whether the TSLPR gene SNPs are associated with susceptibility to rheumatoid arthritis (RA). We compared the genotype and the allele frequencies of the TSLPR SNPs in 457 RA patients and 570 healthy controls. The genotype and the allele frequencies of the TSLPR gene SNPs in the RA patients were not significantly different from the respective frequencies of the healthy controls. Additional analysis showed that the genotype and the allele frequencies of the TSLPR gene SNPs did not appear to be associated with RA in female RA patients. The TSLPR gene SNPs in the RA patients did not affect the production of rheumatoid factor (RF) and antisynthetic cyclic citrullinated peptide (CCP).Our results suggest that the TSLPR gene SNPs are not associated with susceptibility to RA in the Korean population.

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Section: Discussionmentioning

confidence: 99%

Association of Thymic Stromal Lymphopoietin Receptor (TSLPR) Polymorphisms with the Susceptibility of Rheumatoid Arthritis in a Korean Population

Yu¹,

Mo²,

Chae³

2013

Journal of Life Science

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“…1). Previously, several statistical analyses showed a positive association between T-1993C SNP or T-1514 C SNP (You et al 2010;Chae et al 2009) and autoimmune diseases. These observations indicate that both SNPs are involved in autoimmune diseases by affecting promoter activity.…”

Section: Frequencies Of −1993 and −1514 Snps In The Chinese Populationmentioning

confidence: 98%

“…For example, the associations between SNP haplotypes at −1514 and −1993 and SLE (You et al 2010), between T-1993C polymorphism and autoimmune hepatitis , and between T-1514C polymorphism and RA have been reported (Chae et al 2009). We previously analyzed the effect of a T-1993C polymorphism on the function of the TBX21 gene and found that the occurrence of an additional Yin Yang 1 (YY1) motif in the −1993C allele resulted in higher affinity to YY1, which subsequently caused lower transactivation of the promoter (Li et al 2011).…”

Section: Introductionmentioning

confidence: 96%

The role of upstream stimulatory factor 1 in the transcriptional regulation of the human TBX21 promoter mediated by the T-1514C polymorphism associated with systemic lupus erythematosus

Ji-rong

You

et al. 2012

Immunogenetics

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T-bet is a key regulator for the lineage commitment in CD4+ T helper (Th) 1 cells by activating the hallmark production of interferon-γ. Previously, two single nucleotide polymorphisms (SNPs) in the TBX21 promoter, T-1993C and T-1514C, have been shown by statistic studies to associate with systemic lupus erythematosus (SLE). The effect of -1993 SNP on the Yin Yang 1 transcription factor-mediated promoter activity has been already indicated. This study aimed to investigate roles of the T-1514C SNP on TBX21 transcription and its functional effect by luciferase reporter, electrophoretic mobility shift assay (EMSA), chromatin immunoprecipitation (ChIP) assay, and flow cytometric analysis of intracellular T-bet, IFN-γ, and IL-4 expression in activated CD4+ T cells. The TBX21 promoter carrying -1514C possessed significantly lower transcriptional activity than that of -1514T and was markedly downregulated by the overexpression of upstream stimulatory factor 1 (USF-1) when compared with the promoter carrying -1514T. EMSA indicated that the transcription factor USF-1 was bound to the -1514C allele probe with the affinity higher than that to the -1514T allele probe. ChIP assay suggested that USF-1 bound around -1514 of TBX21 genomic DNA in vivo in the human T cell line Jurkat with -1514C/T. The individuals carrying -1514C allele were determined to have significantly diminished expression of T-bet and IFN-γ and increased IL-4 production in CD4+ T cells compared with those of -1514T allele. The findings demonstrate that the T-1514C polymorphism affects TBX21 gene expression and Th1 cytokine production by binding USF-1 to the SNP site.

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“…We previously suggested that the exon 4 variations of the Tim-1 gene [3], the eotaxin-3 polymorphisms [5], and TBX21 polymorphisms [4] are associated with RA susceptibility.…”

Section: Discussionmentioning

confidence: 99%

Thymic Stromal Lymphopoietin (TSLP) Gene Polymorphisms are not Associated with Rheumatoid Arthritis in a Korean Population

Lee¹,

Yu²,

Chae³

2012

Journal of Life Science

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Thymic stromal lymphopoietin (TSLP) is a novel IL-7-like hematopoietic cytokine. Human TSLP is produced by epithelial cells, stromal cells, and mast cells. The TSLP gene is highly expressed in synovial fluid specimens derived from rheumatoid arthritis (RA) patients. We previously identified four single nucleotide polymorphisms (SNPs) and one variation site in human TSLP gene. In this study, we analyzed the genotypic and allelic frequencies of the TSLP SNPs between RA patients and healthy controls. We also investigated the relationships between SNP genotypes and the RF levels and anti-synthetic cyclic citrullinated peptide (CCP) levels in RA patients. We then calculated the haplotype frequencies defined by these SNPs for both groups. The genotype and allele frequencies of the TSLP SNPs did not differ significantly between the RA patients and the healthy controls. We also found that TSLP SNPs in the RA patients had no significant association with the levels of RF or anti-CCP. Our results suggest that TSLP SNPs are not associated with susceptibility to RA.

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Association of TBX21 polymorphisms in a Korean population with rheumatoid arthritis

Cited by 29 publications

References 31 publications

Association of Thymic Stromal Lymphopoietin Receptor (TSLPR) Polymorphisms with the Susceptibility of Rheumatoid Arthritis in a Korean Population

Association of Thymic Stromal Lymphopoietin Receptor (TSLPR) Polymorphisms with the Susceptibility of Rheumatoid Arthritis in a Korean Population

The role of upstream stimulatory factor 1 in the transcriptional regulation of the human TBX21 promoter mediated by the T-1514C polymorphism associated with systemic lupus erythematosus

Thymic Stromal Lymphopoietin (TSLP) Gene Polymorphisms are not Associated with Rheumatoid Arthritis in a Korean Population

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