rs763872895
This variant is located in the IL1RN gene.
▶ClinVar annotation
Interstitial lung disease 2; Sterile multifocal osteomyelitis with periostitis and pustulosis; Malignant tumor of urinary bladder
View on ClinVar →▶Research that mentions this SNP (1)
▶Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosisAssociationN=378Yanhan Deng et al.(2018)· Human Mutation
Targeted resequencing of 92 IPF-related genes in 253 Chinese sporadic IPF patients and 125 controls identified 2 pathogenic variants (TERT rs121918666, rs199422294) and 10 loss-of-function variants in 4.74% of cases. Burden tests revealed rare missense variants in CSF3R, DSP, and LAMA3 were significantly associated with IPF. Four common SNPs (rs3737002, rs2296160, rs1800470, rs35705950) showed significant associations, with a cumulative risk model showing that high-risk subjects had 3.47-fold increased risk (95%CI: 2.07-5.81, p = 2.34×10⁻⁶) compared to low-risk subjects.
About IL1RN
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]
View all IL1RN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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