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From SNPedia

Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2228145(A;C)
Make rs2228145(C;C)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs2228145
23andMe allrs2228145
SNP Nexus

GWAS Ctlgrs2228145
Merged fromRs8192284
Max Magnitude0
? (A;A) (A;C) (C;C) 28
[PMID 22072558OA-icon.png] An intermediate-risk multiple myeloma subgroup is defined by sIL-6r; levels synergistically increase with incidence of SNP rs2228145 and 1q21 amplification

[PMID 22421339OA-icon.png] Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies

[PMID 22554704OA-icon.png] The IL6R variation Asp(358)Ala is a potential modifier of lung function in subjects with asthma

[PMID 21981268] Lack of association of IL6R rs2228145 and IL6ST/gp130 rs2228044 gene polymorphisms with cardiovascular disease in patients with rheumatoid arthritis.

Risk rs2228145(C;C)
Alt rs2228145(C;C)
Reference rs2228145(A;A)
Significance Other
Disease Soluble interleukin-6 receptor Interleukin 6
Variation info
Gene IL6R
CLNDBN Soluble interleukin-6 receptor, serum level of, quantitative trait locus Interleukin 6, serum level of, quantitative trait locus
Reversed 0
HGVS NC_000001.10:g.154426970A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015767.2, RCV000029243.2,

[PMID 17357077OA-icon.png] Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels.

[PMID 17671508OA-icon.png] A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects.

[PMID 17898129] Interleukin-6 receptor gene variations, plasma interleukin-6 levels, and type 2 diabetes in U.S. Women.

[PMID 17984249] Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women.

[PMID 18781131OA-icon.png] Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma.

[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

[PMID 18852330OA-icon.png] Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women.

[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

[PMID 19124510OA-icon.png] Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma.

[PMID 19249341OA-icon.png] Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults.

[PMID 19280716] The IL6-174G/C polymorphism is associated with celiac disease susceptibility in girls.

[PMID 19356949OA-icon.png] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

[PMID 19503017OA-icon.png] Genetic ancestry modifies pharmacogenetic gene-gene interaction for asthma.

[PMID 19567438OA-icon.png] Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.

[PMID 19671870OA-icon.png] Prognostic significance of interleukin-6 single nucleotide polymorphism genotypes in neuroblastoma: rs1800795 (promoter) and rs8192284 (receptor).

[PMID 19713205] A gain of function polymorphism in the interleukin 6 receptor influences RA susceptibility.

[PMID 19926672] Genotype at the sIL-6R A358C polymorphism does not influence response to anti-TNF therapy in patients with rheumatoid arthritis.

[PMID 19967057OA-icon.png] Association between Interleukin 31 Receptor A Gene Polymorphism and Schizophrenia in Korean Population.

[PMID 20031577OA-icon.png] Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.

[PMID 20031577OA-icon.png] Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.

[PMID 20031590OA-icon.png] The relation of genetic and environmental factors to systemic inflammatory biomarker concentrations.

[PMID 20186139] Interleukin-6 receptor gene polymorphism modulates interleukin-6 levels and the metabolic syndrome: GBCS-CVD.

[PMID 20197062] Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han.

[PMID 20551110] Influence of IL6R rs8192284 polymorphism status in disease activity in rheumatoid arthritis.

[PMID 20661738] Plasma soluble IL-6 receptor concentration in rheumatoid arthritis: associations with the rs8192284 IL6R polymorphism and with disease activity.

[PMID 20811626OA-icon.png] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

[PMID 21496483] Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway.

[PMID 22421340OA-icon.png] The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.

GET Evidence
aa_change Asp358Ala
aa_change_short D358A
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.316137

[PMID 23111417OA-icon.png] Interleukin-6 receptor pathways in abdominal aortic aneurysm

[PMID 23372742OA-icon.png] Interleukin-6 Receptor Polymorphism Is Prevalent in HIV-negative Castleman Disease and Is Associated with Increased Soluble Interleukin-6 Receptor Levels

[PMID 23594084] The interleukin 6 receptor alpha gene polymorphisms are associated with clinical manifestations of systemic lupus erythematosus in Koreans

[PMID 23945879OA-icon.png] A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk

[PMID 23582566] A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis

[PMID 24285489] Investigation of an interleukin-6 receptor gene polymorphism (rs2228145) as a predictor of cardiovascular mortality in inflammatory polyarthritis: results from the Norfolk Arthritis Register

[PMID 22742541] No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis.

[PMID 23073775] Association of two variants in the interleukin-6 receptor gene and premature coronary heart disease in a Chinese Han population.

[PMID 23094986OA-icon.png] Interleukin-6 receptor gene 48892 A/C polymorphism is associated with metabolic syndrome in female Taiwanese adolescents.

[PMID 23505291] Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers.

[PMID 23533647OA-icon.png] Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma.

[PMID 24878322] The Interleukin-6 Receptor Asp358Ala Single Nucleotide Polymorphism rs2228145 Confers Increased Proteolytic Conversion Rates by ADAM Proteases

GWAS snp
PMID [PMID 24390342OA-icon.png]
Trait Rheumatoid arthritis
Title Genetics of rheumatoid arthritis contributes to biology and drug discovery.
Risk Allele A
P-val 4E-9
Odds Ratio 1.08 [1.05-1.10]

[PMID 26198920] Family-based association study of interleukin 6 (IL6) and its receptor (IL6R) functional polymorphisms in schizophrenia in the Polish population