LongevityMap Gene

Gene details

HGNC symbol
IL6R 
Aliases
IL6Q; gp80; CD126; IL6RA; IL6RQ; IL-6RA; IL-6R-1 
Common name
interleukin 6 receptor 
Description
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 reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
OMIM
147880
Ensembl
ENSG00000160712
UniProt/Swiss-Prot
A0A087WTB5_HUMAN
Entrez Gene
3570
UniGene
135087
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
il6r
Mus musculus
Il6ra
Rattus norvegicus
Il6r

Studies (2)

Significant/Non-significant: 0/2

Study 1

Longevity Association
Non-significant
Population
Danish, German, Dutch
Study Design
102 SNPs from 16 longevity candidate genes were examined in Danish. 1089 individuals (ages 92.2-93.8, mean age 93.2, 71.3 female) and 736 middle-aged controls (46-55 y, mean age 50.6, 49.6% female) were involved in this case-control study. Then the results were replicated in a German cohort of 1613 individuals (95-110 y, 73.2% female) and 1104 middle-aged controls (mean age 67.2, SD 4.07, 74.3% female). A 11 years study was introduced in Danish cohort to identify the SNPs associated with longevity, then the results were verified in Dutch longitudinal cohort.
Conclusions
After correcting for multiple testing, no SNPs were significantly associated with longevity, except in APOE and CETP. rs4343 (ACE) was nominally significantly associated with longevity (P < 0.05).
Indentifier
rs12083537
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    American (Caucasian and African–American), Ashkenazi Jewish
    Study Design
    A panel of 477 tag SNPs across 87 candidate genes was screened in >5000 older participants from the population-based Cardiovascular Health Study (CHS). Then, the significant results were validated in Ashkenazi Jews cohort and Study of Osteoporotic Fractures (SOF) cohort.
    Conclusions
    Although baseline IL-6 concentration was a strong predictor of mortality, and IL6R alleles were associated with IL-6, there was no evidence of association between IL6R alleles and longevity
    Indentifier
    rs4537545
    Reference