rs3024896
This variant is located in the STAT4 gene.
▶Research that mentions this SNP (2)
▶Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosusAssociationN=10,543Paula S. Ramos et al.(2011)· Arthritis & Rheumatism
A three-stage genetic association study of interferon pathway-related genes identifies multiple novel loci associated with systemic lupus erythematosus (SLE). The study evaluated 1,754 genes in two discovery/replication cohorts (939 SLE cases, 3,398 controls) with confirmation in an independent cohort. Novel confirmed associations include CD44 (rs507230, P = 3.98×10⁻¹², OR = 0.71), pleiotrophin/PTN (rs919581, P = 5.38×10⁻⁴), DNAJA1 (rs10971259, P = 6.31×10⁻³), and KPNA1 (rs6810306, P = 4.91×10⁻²).
▶High‐density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groupsAssociationN=9,234Namjou B. et al.(2009)· Arthritis & 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.
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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