rs719250

This is a intron variant variant in the IL1R2 gene.

▶

GWAS Catalog Trait Associations (1)

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

interleukin-1 receptor-like 2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.12
p 2.0e-45
N 47,745
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Association between the IL1R2 rs2072472 polymorphism and high‐altitude pulmonary edema risk
AssociationN=568Tianbo Jin et al.(2019)· Molecular Genetics &amp; Genomic Medicine

A case-control study of 265 HAPE cases and 303 controls in a Chinese Han population investigated associations between 11 SNPs in IL1R1 and IL1R2 genes and high-altitude pulmonary edema (HAPE) risk. The rs2072472 variant in IL1R2 was significantly associated with decreased HAPE risk (OR = 0.73, 95% CI = 0.55-0.97, p = 0.033 in allele model; OR = 0.66, 95% CI = 0.49-0.90, p = 0.009 in log-additive model adjusted for age and gender), suggesting IL1R2 polymorphisms may play a protective role in HAPE susceptibility.

Traits studied:High-altitude pulmonary edema (HAPE)
PubMedDOIMetascience Observatory

About IL1R2

The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]

View all IL1R2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…