rs4537545

This is a regulatory region variant variant in the IL6R gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

interleukin-6 measurement

Ahluwalia TS et al. “Genome-wide association study of circulating interleukin 6 levels identifies novel loci.” Human Molecular Genetics 30(5):393-409 (2021)
Allele T
OR 0.09
p 1.0e-122
N 52,654
Large GWAS
European

C-reactive protein measurement

Elliott P. et al. “Genetic Loci Associated With C-Reactive Protein Levels and Risk of Coronary Heart Disease” Jama (2009)
Allele T
OR 11.50
p 2.0e-14
N 17,967
Large GWAS
South Asian, European
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Research that mentions this SNP (2)

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Association of a functional polymorphism in the promoter region of TLR‐3 with osteoarthritis: A two‐stage case–control study
AssociationN=292Hsin‐Yi Yang et al.(2013)· Journal of Orthopaedic Research

Case-control study of 292 Colombian subjects (191 dengue cases, 101 controls) evaluating associations between dengue susceptibility and polymorphisms in IL6R (rs8192284), TLR3 (rs3775290), and DC-SIGN (rs7248637). In Afro-Colombians, the C allele of rs8192284 was protective (OR=0.425, p=0.020), while the A alleles of rs7248637 and rs3775290 increased risk (OR=2.389, p=0.015 and OR=2.329, p=0.005 in Mestizos). The CAG allelic combination remained significantly associated with dengue after Amerindian ancestry adjustment (OR=2.16, p=0.028).

Traits studied:Dengue feverDengue hemorrhagic feverDengue shock syndrome
PubMedDOIMetascience Observatory
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Genetic Loci Associated With C-Reactive Protein Levels and Risk of Coronary Heart Disease
AssociationN=130,857Elliott P. et al.(2009)· JAMA

Genome-wide association study identified five genetic loci influencing C-reactive protein (CRP) levels: rs6700896 in LEPR (-14.7% per allele, OR 1.06 for CHD), rs4537545 in IL6R (-10.8%, OR 0.94 for CHD), rs7553007 in CRP locus (-20.7%, OR 0.98 for CHD), rs1183910 in HNF1A (-13.6%), and rs4420638 in APOE-CI-CII (-21.8%, OR 1.16 for CHD). Mendelian randomization analysis of 28,112 CHD cases and 100,823 controls found no causal association between CRP genetic variants and coronary heart disease (OR 1.00, 95% CI 0.97-1.02), arguing against CRP having a causal role in atherosclerosis.

Traits studied:C-reactive protein levelsCoronary heart diseaseHDL cholesterolLDL cholesterolMyocardial infarctionTotal cholesterolTriglycerides
PubMedDOIMetascience Observatory

About IL6R

This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been identified in this gene. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Aug 2020]

View all IL6R variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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