Interleukin 4 Receptor

Alternative Names

  • IL4R
  • Interleukin 4 Receptor, Alpha
  • IL4RA
Back to search Result
OMIM Number

147781

Gene Map Locus
16p12.1

Description

The IL4R gene provides instructions for making the alpha subunit of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production.  It also binds to interleukin 4 to promote differentiation of Th2 cells.  This protein is involved in regulating IgE production as well as chemokine and mucus production at sites of allergic inflammation.  It also can signal through activation of insulin receptor substrates, IRS1/IRS2 in certain cell types.  Another form of the encoded protein can be produced by proteolysis of the membrane-bound moiety, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells.

Molecular Genetics

The IL4R gene is located in a region of 51 kb on chromosome 16p12.1 that encodes a protein of 825 amino acids.  Within the coding region of the IL4R gene, seven single-nucleotide polymorphisms (SNPs) have been identified.  Many of these SNPs in IL4R change the protein primary structure.  Changes to IL4R amino acid residues, particularly the I50V and the Q551R polymorphism, are suggested to be functionally important and impact IL4 receptor signaling.  IL4R SNPs have been associated with susceptibility to immune-related diseases, including asthma, lupus, sinusitis, atopy and type 1 diabetes.  In addition, these polymorphisms are associated with resistance to human immunodeficiency virus type-1 infection.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000418.3:c.1727A>GLebanonNC_000016.10:g.27363079A>GRisk factorBenignNG_012086.1:g.54150A>G; NM_000418.3:c.1727A>G; NP_000409.1:p.Gln576Arg180127514665

Other Reports

Egypt

Hussein et al (2012) studied the role of two SNPs in the IL4RA gene and their relation to susceptibility and severity of Rheumatoid Arthritis (RA) in 172 Egyptian women (mean age: 48 years).  PCR-RFLP was used to genotype the I50V and Q576R polymorphisms in the patients and 172 healthy control women.  The frequencies of IV genotype were found to be significantly increased in patients over the control group (53% vs. 42%).  Patients with erosive RA had a significantly increased frequency of the VV genotype over patients with non-erosive RA (27% vs. 18%), while frequencies of the QR genotype were significantly decreased among the erosive patients (32% vs. 42%).  Patients with the VV genotype had a 2.6 fold increased risk to developing erosive RA.  In addition, carriers of the 50V and 576Q alleles were found to more likely be RF positive.  The authors highlighted the potential of using these SNPS as markers for the early detection of erosive RA in Egyptian women.

Saudi Arabia

Al Robaee et al (2012) conducted a study to investigate the association of genetic polymorphisms in IL-4 and IL-4R genes with acne vulgaris among Saudi patients.  Ninety five acne patients and 87 normal healthy unrelated controls from the same locality were included in the study.  Using real-time PCR, two polymorphisms; IL-4 (590 T/C) at the IL4 promoter region and the IL-4R (Q551R A/G) at the IL4 receptor gene were analyzed.  No significant differences were found with nearly equal frequencies for the IL4 (590 T/C) genotype among acne patients and controls.  While a significantly higher frequency of the IL-4R (Q551R A/G) homozygous mutant polymorphism GG were noted in patients than in controls (42.7% and 8% respectively), with a lower frequency of the wild type genotype AA in patients than in controls (55.2% and 63.2% respectively).  These results provided evidence for a significant association between the IL-4R (Q551R A/G) genetic polymorphisms and susceptibility to acne vulgaris.

© CAGS 2024. All rights reserved.