rs2074190

This is a synonymous variant in the TBX21 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

asthma

Jia G et al. “Discerning asthma endotypes through comorbidity mapping.” Nature Communications 13(1):6712 (2022)

Allele G

OR 0.96

p 4.0e-8

N 305,098

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

3 submitters1 publication

Immunodeficiency 88; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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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

PubMed DOI Metascience 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]