rs2228145

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs2228145(A;C)

Make rs2228145(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

154454494

Gene

IL6R

is a	snp
is	mentioned by
dbSNP	rs2228145
dbSNP (classic)	rs2228145
ClinGen	rs2228145
ebi	rs2228145
HLI	rs2228145
Exac	rs2228145
Gnomad	rs2228145
Varsome	rs2228145
LitVar	rs2228145
Map	rs2228145
PheGenI	rs2228145
Biobank	rs2228145
1000 genomes	rs2228145
hgdp	rs2228145
ensembl	rs2228145
geneview	rs2228145
scholar	rs2228145
google	rs2228145
pharmgkb	rs2228145
gwascentral	rs2228145
openSNP	rs2228145
23andMe	rs2228145
SNPshot	rs2228145
SNPdbe	rs2228145
MSV3d	rs2228145
GWAS Ctlg	rs2228145

Merged from

Rs8192284

GMAF

0.3191

Max Magnitude

0

rs2228145, also known as p.Asp358Ala, represents a variant in the the interleukin 6 receptor (IL6R) gene, located on chromosome 1.

Patients with amyotrophic lateral sclerosis (ALS) who carry rs2228145(C) alleles appear likely to have more severe disease symptoms and faster progression than ALS patients who are rs2228145(A;A), according to a 2019 study.10.1212/NXI.0000000000000631

?

(A;A) (A;C) (C;C)

28

OMIM	147880
Desc
Variant	0001
Related	also

[PMID 22072558 ] An intermediate-risk multiple myeloma subgroup is defined by sIL-6r; levels synergistically increase with incidence of SNP rs2228145 and 1q21 amplification

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

[PMID 22554704 ] 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) rs2228145(T;T)
Alt	rs2228145(C;C) rs2228145(T;T)
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 UniProtKB (protein)
CLNACC	RCV000015767.2, RCV000029243.2,

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

[PMID 17671508 ] 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 18781131 ] Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma.

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

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

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

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

[PMID 19249341 ] 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 19356949 ] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

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

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

[PMID 19671870 ] 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 19967057 ] Association between Interleukin 31 Receptor A Gene Polymorphism and Schizophrenia in Korean Population.

[PMID 20031577 ] 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 20031590 ] 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 20811626 ] 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 22421340 ] The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.

[PMID 23111417 ] Interleukin-6 receptor pathways in abdominal aortic aneurysm

[PMID 23372742 ] 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 23945879 ] 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 23094986 ] 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 23533647 ] 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 24390342 ]
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

[PMID 28144260 ] The rs2228145 polymorphism in the interleukin-6 receptor and its association with long-term prognosis after myocardial infarction in a pilot study.

[PMID 28593468] Association of the IL6 rs1800796, but not of the IL6 rs1800795, IL6R rs4845617 and rs2228145 polymorphisms with hip fracture in elderly Mexican women.

[PMID 29197507 ] Association between a Functional Interleukin 6 Receptor Genetic Variant and Risk of Depression and Psychosis in a Population-based Birth Cohort.

[PMID 29775600 ] Variation in Interleukin 6 Receptor Gene Associates with Risk of Crohn's Disease and Ulcerative Colitis.

[PMID 30090940 ] Association of Interleukin 6 Receptor Variant With Cardiovascular Disease Effects of Interleukin 6 Receptor Blocking Therapy: A Phenome-Wide Association Study.

[PMID 31900081] Inflammatory biomarkers and risk of ischemic stroke and subtypes: A 2-sample Mendelian randomization study.

[PMID 31929778 ] Association between Hepatitis C Virus Viremia and the rs12979860, rs2228145 and rs1800795 SNP (CT/AC/GG) Genotype in Saudi Kidney Transplant Recipients.