rs9808753
This variant is located in the IFNGR2 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
multiple sclerosis
psoriasis
▶ClinVar annotation
Immunodeficiency 28; not provided; not specified
View on ClinVar →▶Research that mentions this SNP (3)
▶Pilot screening study of targeted genetic polymorphisms for association with seasonal influenza hospital admissionAssociationN=14,471Tonia C. Carter et al.(2018)· Journal of Medical Virology
This pilot screening study evaluated 32 SNPs in viral immune response genes for association with hospitalized seasonal influenza in adults of European ancestry using a discovery group (26 cases, 993 controls) and two validation groups (84 cases, 4,076 controls; 128 cases, 9,187 controls). The study failed to replicate the previously reported association between IFITM3 rs12252 and hospitalized influenza (P > 0.05), and a preliminary finding of association with SLFN13 rs8072510 (P = 0.0099 in discovery group) was not confirmed in validation groups.
▶Genetic polymorphisms in IL10RA and TNF modify the association between blood transfusion and risk of non‐Hodgkin lymphomaAssociationN=1,023Xiaofeng Bi et al.(2012)· American Journal of Hematology
Population-based case-control study of Connecticut women showing that genetic polymorphisms in IL10RA (rs9610) and TNF (rs1800629) genes modify the association between blood transfusion and non-Hodgkin lymphoma (NHL) risk. IL10RA rs9610 GG genotype carriers with transfusion history had increased NHL risk (OR=1.9, 95% CI: 1.1-3.2), while AG/AA carriers had decreased risk (OR=0.6, 95% CI: 0.4-0.9), with significant gene-transfusion interaction (P=0.003).
▶Host immune gene polymorphisms were associated with the prognosis of non‐small‐cell lung cancer in ChineseAssociationN=568Juncheng Dai et al.(2012)· International Journal of Cancer
A prospective study of 568 Chinese non-small-cell lung cancer (NSCLC) patients found that four immune gene polymorphisms were independently associated with survival: IL-5R rs11713419 (5'-UTR, P=0.001), IL23R rs6682925 (5'-FR, P=0.017), TLR1 rs5743551 (5'-FR, P=0.02), and TLR3 rs3775291 (Leu412Phe, P=0.01). Patients carrying 1 unfavorable locus had 124% increased mortality risk (HR=2.24, 95% CI: 1.33-3.75), and those with 2-4 unfavorable loci had 175% increased risk (HR=2.75, 95% CI: 1.67-4.51). Combined SNP and clinical risk score model achieved 5-year AUC of 0.831 versus 0.484 for clinical factors alone.
About IFNGR2
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
View all IFNGR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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