rs11650354

This variant is located in the TBX21 gene.

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Research that mentions this SNP (2)

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C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: Results from a large french cohort and meta-analysis
ReviewBaptiste Coustet et al.(2011)· Arthritis & Rheumatism

This review article updates the genetics of systemic sclerosis (SSc), a multifactorial autoimmune disease. Key findings include identification of multiple susceptibility genes through candidate studies (STAT4 rs7574865, PTPN22 rs2476601, CD226 rs763361, TNFAIP3 rs5029939, and others) and genome-wide association studies revealing loci at HLA, STAT4, CD247, TNPO3/IRF5, and novel regions (TNIP1, RHOB). A large GWAS (N=2,296 cases/5,171 controls) identified HLA-DQB1 (rs6457617) as the strongest association and replicated CD247 rs2056626. Gene-gene interaction studies demonstrated additive effects of STAT4, IRF5, and NLRP1 variants on disease susceptibility.

Traits studied:Anticentromere antibody (ACA) positiveAntitopoisomerase antibody (ATA) positiveDiffuse cutaneous SSc (dcSSc)Digital ulcersEnd-stage lung diseaseFibrosing alveolitis (FA)Interstitial lung diseaseLimited cutaneous SSc (lcSSc)Pulmonary arterial hypertension (PAH)Systemic sclerosis (SSc)
PubMedDOIMetascience Observatory
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Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: Evidence of possible gene–gene interaction and alterations in Th1/Th2 cytokines
AssociationN=6,784Pravitt Gourh et al.(2009)· Arthritis & Rheumatism

Two independent candidate gene association studies identified SNPs in TBX21 and STAT4 as significant risk factors for systemic sclerosis in North American whites. TBX21 rs11650354 (TT genotype) conferred 3.37-fold increased risk in recessive mode (P=1.4×10⁻¹⁵, combined N=902 cases/4,745 controls), while STAT4 rs11889341 A allele increased risk 1.29-fold in dominant mode (P=2.4×10⁻⁵, combined N=1,039 cases/3,322 controls). Gene-gene interaction analysis revealed synergistic effects on SSc susceptibility with altered Th1/Th2 cytokine profiles.

Traits studied:Systemic sclerosisSystemic sclerosis (diffuse cutaneous)Systemic sclerosis (limited cutaneous)Systemic sclerosis anti-RNA polymerase III antibody positiveSystemic sclerosis anti-topoisomerase I antibody positiveSystemic sclerosis anticentromere antibody positiveSystemic sclerosis with pulmonary fibrosis
PubMedDOIMetascience Observatory

About TBX21

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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