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, India
AssociationN=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).

Traits studied:Perinatal HIV transmissionVertical HIV transmission
Interleukin-1 gene cluster and IL-1 receptor polymorphisms in Iranian patients with systemic lupus erythematosus
AssociationN=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.

Traits studied:Hematologic manifestationsSystemic lupus erythematosus

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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