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rs8192284

From SNPedia

Merged intors2228145
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) reduced risk of multiple myeloma
(A;C) 1.7x increased melanoma risk
(C;C) 2.5x increased risk of multiple myeloma versus AA genotype
ReferenceGRCh38 38.1/141
Chromosome1
Position154454494
GeneIL6R
is asnp
is mentioned by
dbSNPrs8192284
ebirs8192284
HLIrs8192284
Exacrs8192284
Varsomers8192284
Maprs8192284
PheGenIrs8192284
hapmaprs8192284
1000 genomesrs8192284
hgdprs8192284
ensemblrs8192284
gopubmedrs8192284
geneviewrs8192284
scholarrs8192284
googlers8192284
pharmgkbrs8192284
gwascentralrs8192284
openSNPrs8192284
23andMers8192284
23andMe allrs8192284
SNP Nexus

SNPshotrs8192284
SNPdbers8192284
MSV3drs8192284
GWAS Ctlgrs8192284
StatusMerged into rs2228145
Max Magnitude
? (A;A) (A;C) (C;C) 28
A study of 219 female melanoma patients and an equal number of controls concluded that 4 linked SNPs within the IL6R gene were associated with increased melanoma risk, but only when heterozygous. The odds ratio associated with the minor allele of this SNP, rs8192284 (also known as Asp358Ala), was 1.68 (CI: 1.04-2.73). The 4 linked SNPs from identified in this study are: rs6684439, rs4845618, rs4845622, and rs8192284.[PMID 18781131OA-icon.png]

linked to diabetes by [PMID 17898129]

[PMID 19124510OA-icon.png] multiple myeloma

  • rs1801278 [C/T versus C/C genotypes; OR, 4.3; 95% confidence interval (CI), 1.5-12.1]
  • rs6684439 (T/T versus C/C; OR, 2.9; 95% CI, 1.2-7.0)
  • rs7529229 (C/C versus T/T; OR, 2.5; 95% CI, 1.1-6.0)
  • rs8192284 (C/C versus A/A; OR, 2.5, 95% CI, 1.1-6.0)
GWAS
SNP rs8192284
PubMedID [PMID 18439548OA-icon.png]
Condition C-reactive protein
Gene IL6R
Risk Allele
pValue 2.00E-008
OR 0.1
95% CI NR) mg/dl decreas
Neighborrs4129267
Distance707

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

OMIM147880
DescINTERLEUKIN 6 RECEPTOR; IL6R
Variant
Relatedalso
[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 20031590OA-icon.png] The Relation of Genetic and Environmental Factors to Systemic Inflammatory Biomarker Concentrations

GWAS snp
PMID [PMID 20031577OA-icon.png]
Trait Fibrinogen
Title 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
Risk Allele C
P-val 2E-11
Odds Ratio 5.30 [NR] mg/dl decrease


[PMID 20186139] Interleukin-6 Receptor Gene Polymorphism Modulates Interleukin-6 Levels and the Metabolic Syndrome: GBCS-CVD


[PMID 20551110] Influence of IL6R rs8192284 Polymorphism Status in Disease Activity in Rheumatoid Arthritis

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


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


[PMID 22677780] Interleukin-6 -634G>C Genetic Polymorphism Is Associated with Prognosis following Surgery for Advanced Thoracic Esophageal Squamous Cell Carcinoma


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


[PMID 24059848] Interleukin-6 polymorphisms and hematologic malignancy: a re-appraisal of evidence from genetic association studies