rs2072472
This is a intron variant variant in the IL1R2 gene.
▶Research that mentions this SNP (1)
▶Association between the IL1R2 rs2072472 polymorphism and high‐altitude pulmonary edema riskAssociationN=568Tianbo Jin et al.(2019)· Molecular Genetics & 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.
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.
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