rs2853550
This variant is located in the IL1B gene.
▶Research that mentions this SNP (2)
▶Evaluation of genetic variants in IL‐1B and its interaction with the predisposition of osteoporosis in the northwestern Chinese Han populationAssociationN=1,193Zhiyi He et al.(2020)· The Journal of Gene Medicine
A case-control study of 594 osteoporosis patients and 599 controls in northwestern Chinese Han population examined seven IL-1B variants. The AA genotype of rs2853550 was protective against osteoporosis (OR=0.11, p=0.038), while rs16944 (OR=1.19–1.42) and rs1143623 (OR=1.21–1.43) increased osteoporosis risk. The haplotype Grs1143630Ars1143627Grs16944 was associated with increased risk (OR=1.20, p=0.032), and a four-locus SNP-SNP interaction model (rs1143643, rs3136558, rs1143630, rs1143623) showed the best prediction accuracy.
▶Genetic variability of interleukin-1 beta as prospective factor from developing post-traumatic stress disorderAssociationN=347Lilit Hovhannisyan et al.(2017)· Immunogenetics
A case-control association study of 197 PTSD patients and 150 healthy controls in the Armenian population found that IL1B rs1143633 and rs16944 polymorphisms are protective against PTSD susceptibility. The rs1143633*C allele and rs16944*A allele had significantly lower frequencies in PTSD patients compared to controls (24% vs 39.7% and 21% vs 42%, respectively; OR=0.49 and OR=0.37). These findings suggest IL-1β genetic variants may modulate PTSD risk through effects on inflammatory response.
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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