rs3917356
This is a regulatory region variant variant in the IL1B gene.
▶Research that mentions this SNP (1)
▶Coding Single-Nucleotide Polymorphisms of Interleukin-1 Gene Cluster Are Not Associated with Kawasaki Disease in the Korean PopulationAssociationN=396Su Kang Kim et al.(2011)· Pediatric Cardiology
This case-control association study examined whether four coding SNPs in the IL-1 gene cluster (rs17561, rs1143634, rs419598, rs315952) are associated with Kawasaki disease (KD) susceptibility and coronary artery lesion (CAL) development in 109 Korean KD patients and 287 healthy controls. No significant associations were found between any of the four IL-1 cSNPs and KD or CAL development (all P > 0.05), suggesting the IL-1 gene cluster members are not genetic markers of KD susceptibility in the Korean population.
About IL1B
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. Similarly, IL-1B has been implicated in human osteoarthritis pathogenesis. Patients with severe Coronavirus Disease 2019 (COVID-19) present elevated levels of pro-inflammatory cytokines such as IL-1B in bronchial alveolar lavage fluid samples. The lung damage induced by the Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the inflammatory response promoted by cytokines such as IL-1B. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2020]
View all IL1B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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