rs1143642

This is a regulatory region variant variant in the IL1B gene.

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GWAS Catalog Trait Associations (1)

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

C-reactive protein measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.02
p 1.0e-8
N 575,531
Large GWAS
European
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Research that mentions this SNP (1)

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A broad analysis of IL1 polymorphism and rheumatoid arthritis
AssociationN=6,623Alyssa K. Johnsen et al.(2008)· Arthritis &amp; Rheumatism

A comprehensive case-control and longitudinal cohort study of IL1A and IL1B polymorphisms in rheumatoid arthritis (RA) involving 3,561 patients and 3,062 controls across multiple populations. Despite strong suggestive findings in the discovery NARAC sample (RA3/A OR 1.27, P = 0.0021; RA4/C OR 1.56, P = 0.036), these associations failed replication in independent case-control cohorts and erosion status analyses, leading to the conclusion that common variants in IL1A/B do not significantly contribute to RA susceptibility or severity in European-descent populations.

Traits studied:Anti-cyclic citrullinated peptide antibodiesDisease Activity Score in 28 jointsDisease severity in rheumatoid arthritisRadiographic erosions in rheumatoid arthritisRheumatoid arthritis susceptibilityRheumatoid factor
PubMedDOIMetascience Observatory

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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