rs7582694

This is a regulatory region variant variant in the STAT4 gene.

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GWAS Catalog Trait Associations (5)

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

Thyroid preparation use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.14
p 1.0e-42
N 484,308
Large GWAS
multi-ancestry

systemic lupus erythematosus

Tangtanatakul P et al. “Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.” Arthritis Research & Therapy 22(1):185 (2020)
Allele C
OR 1.57
p 8.0e-16
N 4,061
Meta-analysis
South East Asian

Immunosuppressant use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.14
p 2.0e-13
N 451,328
Large GWAS
multi-ancestry

type 1 diabetes mellitus

Robertson CC et al. “Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.” Nature Genetics 53(7):962-971 (2021)
Allele G
OR 0.92
p 3.0e-9
N 59,527
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population
AssociationN=1,353Haixia Luan et al.(2012)· Rheumatology International

A case-control study of 675 Chinese female SLE patients and 679 controls found that STAT4 rs7582694 is strongly associated with systemic lupus erythematosus susceptibility (OR=0.68, 95% CI: 0.58-0.79, P=1.13×10⁻⁶). However, no significant associations were found between rs7582694 and any of the 11 SLE clinical subphenotypes examined, including nephritis, arthritis, autoantibodies, and neuropsychiatric disorders.

Traits studied:Anti-RNP antibodiesAnti-SSA antibodiesAnti-SSB antibodiesAnti-Sm antibodiesAnti-dsDNA antibodiesArthritisHematologic disorderLow complement levelsLupus nephritisMalar rashNeuropsychiatric disorderSystemic lupus erythematosus
PubMedDOIMetascience Observatory
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High‐density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups
AssociationN=9,234Namjou B. et al.(2009)· Arthritis &amp; Rheumatism

A large case-control study of 4,374 SLE cases and 4,860 controls from multiple racial/ethnic groups identified strong genetic associations between multiple SNPs in the STAT4 gene and systemic lupus erythematosus (SLE), with the strongest association at rs10168266 (p=1.38×10⁻¹⁵ in Europeans, combined p=7.02×10⁻²⁵). Multiple significant haplotypes spanning the STAT4 gene were found across European, Asian-Korean, Hispanic, and African American populations, with conditional analyses suggesting rs10168266 explains the primary haplotypic association. In contrast, STAT1 showed only weak suggestive associations.

Traits studied:Primary Sjögren's syndromeRheumatoid arthritisSystemic lupus erythematosus
PubMedDOIMetascience Observatory

About STAT4

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]

View all STAT4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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