rs3790532
This is a downstream gene variant variant in the JAK1 gene.
▶Research that mentions this SNP (1)
▶Genetic variants in the JAK1 gene confer higher risk of Behcet’s disease with ocular involvement in Han ChineseAssociationN=2,611Shengping Hou et al.(2013)· Human Genetics
Two-stage case-control association study in 738 Han Chinese Behcet's disease patients with ocular involvement and 1,873 controls identified three JAK1 SNPs (rs2780815, rs310241, rs3790532) significantly associated with disease susceptibility (Pc=0.030-1.90×10⁻⁴) with population attributable risks of 35.0%, 28.0%, and 27.0% respectively. No significant associations were found for SLC22A4, SLC22A5, or RUNX1 polymorphisms.
About JAK1
This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]
View all JAK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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