rs4129267
| Orientation | plus |
| Stabilized | plus |
| 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) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 154453788 |
| Gene | IL6R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4129267 |
| dbSNP (classic) | rs4129267 |
| ClinGen | rs4129267 |
| ebi | rs4129267 |
| HLI | rs4129267 |
| Exac | rs4129267 |
| Gnomad | rs4129267 |
| Varsome | rs4129267 |
| LitVar | rs4129267 |
| Map | rs4129267 |
| PheGenI | rs4129267 |
| Biobank | rs4129267 |
| 1000 genomes | rs4129267 |
| hgdp | rs4129267 |
| ensembl | rs4129267 |
| geneview | rs4129267 |
| scholar | rs4129267 |
| rs4129267 | |
| pharmgkb | rs4129267 |
| gwascentral | rs4129267 |
| openSNP | rs4129267 |
| 23andMe | rs4129267 |
| SNPshot | rs4129267 |
| SNPdbe | rs4129267 |
| MSV3d | rs4129267 |
| GWAS Ctlg | rs4129267 |
| GMAF | 0.3186 |
| Max Magnitude | 1.2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS | |
|---|---|
| SNP | rs4129267 |
| PubMedID | [PMID 18464913 ]
|
| Condition | Protein quantitative trait loci |
| Gene | IL6R |
| Risk Allele | C |
| pValue | 2.00E-057 |
| OR | NA |
| 95% CI | |
| GWAS snp | |
|---|---|
| PMID | [PMID 17903307]
|
| 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 22029668] A 2012 educational article explained that in autoimmune inflammatory conditions, IL-6 promotes antibody production, drives CRP levels, and has other pathological roles.
[PMID 23749187] 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 18464913] A 2008 article. Soluble IL6R (sIL-6R) protein levels
| GWAS snp | |
|---|---|
| PMID | [PMID 21300955]
|
| 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 18439548] 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 18439552] 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 18852330] "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 21907864] 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 22554704] 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 19060910] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
[PMID 19197348] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
[PMID 19468064] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.
[PMID 20031577] "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 21647738] 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 17903300] 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 23945879] 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 23969696]
|
| 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 |
[PMID 30090940] Association of Interleukin 6 Receptor Variant With Cardiovascular Disease Effects of Interleukin 6 Receptor Blocking Therapy: A Phenome-Wide Association Study.
