rs2234650
This variant is located in the IL1R1 gene.
▶Research that mentions this SNP (2)
▶Polymorphisms in TH1‐TH2 cytokine and receptor genes associated with risk of vertical HIV transmission, in Mumbai, IndiaAssociationN=91Swati Ahir‐Bist et al.(2018)· The Journal of Gene Medicine
A case-control study of 91 children (30 HIV-seropositive, 61 seronegative) in Mumbai, India examined polymorphisms in TH1-TH2 cytokine and receptor genes associated with vertical HIV transmission. SNP genotyping of 22 variants identified associations with IL1R1 rs2234650 and TNFA rs1800629, with the TNFA GG genotype significantly higher in uninfected children (76.66% vs 46.66%, p=0.005).
▶Interleukin-1 gene cluster and IL-1 receptor polymorphisms in Iranian patients with systemic lupus erythematosusAssociationN=420Zahra Tahmasebi et al.(2013)· Rheumatology International
This case-control study of 207 Iranian SLE patients and 213 healthy controls examined 5 SNPs in IL-1 family genes. The IL-1RN rs315952 CT genotype was significantly protective against SLE (OR=0.63, 95% CI=0.42-0.95, P<0.05), while the T allele was associated with hematologic manifestations in SLE patients (OR=1.75, 95% CI=1.07-2.84, P=0.033). No significant associations were found for IL-1A rs1800587, IL-1B rs16944, IL-1B rs1143634, or IL-1R1 rs2234650.
About IL1R1
This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
View all IL1R1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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