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rs2228145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2228145(A;C)
Make rs2228145(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position154454494
GeneIL6R
is asnp
is mentioned by
dbSNPrs2228145
ebirs2228145
HLIrs2228145
Exacrs2228145
Varsomers2228145
Maprs2228145
PheGenIrs2228145
hapmaprs2228145
1000 genomesrs2228145
hgdprs2228145
ensemblrs2228145
gopubmedrs2228145
geneviewrs2228145
scholarrs2228145
googlers2228145
pharmgkbrs2228145
gwascentralrs2228145
openSNPrs2228145
23andMers2228145
23andMe allrs2228145
SNP Nexus

SNPshotrs2228145
SNPdbers2228145
MSV3drs2228145
GWAS Ctlgrs2228145
Merged fromRs8192284
GMAF0.3191
Max Magnitude0
? (A;A) (A;C) (C;C) 28
OMIM147880
Desc
Variant0001
Relatedalso
[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.


ClinVar
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
IL6R-D358A
aa_change Asp358Ala
aa_change_short D358A
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.316137
summary



[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