Rs8192284

From SNPedia

Jump to: navigation, search
is asnp
is mentioned by
dbSNPrs8192284
hapmaprs8192284
hgdprs8192284
ensemblrs8192284
gopubmedrs8192284
scholarrs8192284
googlers8192284
pharmgkbrs8192284
hgvbaseg2prs8192284
medrefsnprs8192284
23andMers8192284
SNP Nexus

StatusMerged into rs2228145
GeneIL6R
Chromosome1
Orientationplus
Position154426970
ReferenceGRCh37 37.1/131
GenotypeEffect
rs8192284(A;A)normal
rs8192284(A;C)1.7x increased melanoma risk
rs8192284(C;C)normal?


Genotypes Magnitude Summary
Rs8192284(A;A) normal
Rs8192284(A;C) 1.7x increased melanoma risk
Rs8192284(C;C) normal?
? (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 18781131]

linked to diabetes by [PMID 17898129]

[PMID 19124510] 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 18439548]
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.

Related to INTERLEUKIN 6 RECEPTOR; IL6R according to omim 147880. See also


[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 20031590] The Relation of Genetic and Environmental Factors to Systemic Inflammatory Biomarker Concentrations

GWAS snp
PMID [PMID 20031577]
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

Retrieved from "http://www.snpedia.com/index.php/Rs8192284"