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rs4129267

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1 No increased risk of higher IL-R and CRP levels
(T;T) 1.2 Associated with 73% higher IL-R and CRP levels
Make rs4129267(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position154453788
GeneIL6R
is asnp
is mentioned by
dbSNPrs4129267
dbSNP (old)rs4129267
ClinGenrs4129267
ebirs4129267
HLIrs4129267
Exacrs4129267
Gnomadrs4129267
Varsomers4129267
Maprs4129267
PheGenIrs4129267
Biobankrs4129267
1000 genomesrs4129267
hgdprs4129267
ensemblrs4129267
gopubmedrs4129267
geneviewrs4129267
scholarrs4129267
googlers4129267
pharmgkbrs4129267
gwascentralrs4129267
openSNPrs4129267
23andMers4129267
23andMe allrs4129267
SNPshotrs4129267
SNPdbers4129267
MSV3drs4129267
GWAS Ctlgrs4129267
GMAF0.3186
Max Magnitude1.2
? (C;C) (C;T) (T;T) 28
GWAS
SNP rs4129267
PubMedID [PMID 18464913OA-icon.png]
Condition Protein quantitative trait loci
Gene IL6R
Risk Allele C
pValue 2.00E-057
OR NA
95% CI



GWAS snp
PMID [PMID 17903307OA-icon.png]
Trait Other pulmonary function traits
Title Framingham Heart Study genome-wide association: results for pulmonary function measures
Risk Allele
P-val 0.0000069999999999999999
Odds Ratio NR NR


[PMID 22029668OA-icon.png] A 2012 educational article explained that in autoimmune inflammatory conditions, IL-6 promotes antibody production, drives CRP levels, and has other pathological roles.

[PMID 23749187OA-icon.png] A 2013 article titled "Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci" stated that the OR for the risk allele was 1.14 (1.18 in Caucasians, but only 0.99 in Asians), but the TT polymorphism was more significant. TT homozygous at rs4129267 had sIL-6R (soluble inhibiting IL-6 receptors) concentrations 73% higher than CC homozygous (28.9 versus 16.7 ng/ml; P = 7.8 × 10−17) and CRP (C-reactive protein) concentrations were 30% higher in TT than in CC (19.2 versus 14.8 mg/l).

[PMID 18464913OA-icon.png] A 2008 article. Soluble IL6R (sIL-6R) protein levels

GWAS snp
PMID [PMID 21300955OA-icon.png]
Trait
Title Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels
Risk Allele C
P-val 2E-48
Odds Ratio 0.0790 [0.07-0.09] unit increase

[PMID 18439548OA-icon.png] A 2008 study titled "Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study" explained that "elevated levels of C-reactive protein (CRP) independently predict increased risk of development of metabolic syndrome, diabetes, myocardial infarction, and stroke" (Abstract). The IL6R SNP rs4129267 had an influence on median hsCRP levels (mg/l). They were 1.65 for Minor allele homozygous, 1.95 for heterozygous, and 1.98 for major allele homozygous.

[PMID 18439552OA-icon.png] A 2008 article titled "Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein" reported "results of two genetic-association studies of CRP, the Pharmacogenomics and Risk of Cardiovascular Disease (PARC) study and the Cardiovascular Health Study (CHS)." They were unable to find association between this SNP and CRP levels, but said this lack of finding may be due to their smaller sample size.

[PMID 18852330OA-icon.png] "Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women." This 2009 article explained that "SNP rs4129267 reported by the GWAS (9) was not typed in the present study. However, this SNP is in near perfect linkage disequilibrium with rs8192284 (D′ = 1 and r2 = 0.96; HapMap, CEU)." The latter SNP genotype rs8192284 AA (major allele) carried a higher risk of type 2 diabetes (OD =1 in the lowest quartile of the sample, OR=5 in the highest quartile). ORs for AC+CC (C is the minor allele) ranged from 1 to 3.


[PMID 21907864OA-icon.png] Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Published 2011. In the analysis of 15,797 asthmatic patients and 42,003 controls, researchers found rs4129267 SNP's minor allele a risk for Asthma (OR 1·09, combined p=2·4×10(-8))


[PMID 22554704OA-icon.png] The IL6R variation Asp(358)Ala is a potential modifier of lung function in subjects with asthma. Published 2012. Stated "The SNP rs4129267 is in linkage disequilibrium (r(2) = 1) with the IL6R coding SNP rs2228145 (Asp(358)Ala). This IL6R coding change increases IL-6 receptor (IL-6R) shedding and promotes IL-6 transsignaling." (Abstract)

[PMID 19060910OA-icon.png] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

[PMID 19468064OA-icon.png] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.

[PMID 20031577OA-icon.png] "Multiple 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." This 2009 study noted a strong association with this SNP but provided no risk alleles or odds ratios.

[PMID 21496483] A 2011 study of 302 Breast cancer survivors, and follow-up data from 236 of them, "Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway" examined "The associations between fatigue and SNPs in inflammation-related genes; IL1β (rs16944), IL6 (rs1800795), IL6receptor (rs4129267, rs4845617, rs2228145), CRP (rs2794521, rs3091244)" (Abstract). They found borderline significance associated with rs3091244, but no others. They suggested that they could not replicate the finding of CRP levels in association with (rs2228145 and rs4129267) due to their small sample size.

[PMID 21647738OA-icon.png] Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.

[PMID 17903300OA-icon.png] A 2007 article "Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project" listed this SNP among supplementary data on a separate website, but did not provide any discussion of the SNP in text.



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


[PMID 25073350] [Genetic aspects of occupational chronic obstructive lung disease under exposure to various risk factors]

GWAS snp
PMID [PMID 23969696OA-icon.png]
Trait Fibrinogen
Title Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
Risk Allele T
P-val 6E-27
Odds Ratio .01 [0.009-0.013] unit decrease