rs1805011

This is a protein-altering variant in the IL4R gene.

▶

GWAS Catalog Trait Associations (1)

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

interleukin-4 receptor subunit alpha measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.15

p 1.0e-71

N 47,745

Large GWAS

European

▶

ClinVar annotation

Benign

1 submitter

IL4R-related disorder

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

A polymorphism within IL21R confers risk for systemic lupus erythematosus

AssociationN=6,172Ryan Webb et al.(2009)· Arthritis & Rheumatism

This case-control genetic association study identified rs3093301 within the IL21R gene as a novel susceptibility locus for systemic lupus erythematosus (SLE), with consistent association in two independent European-derived and Hispanic cohorts (meta-analysis OR=1.16, 95% CI=1.08-1.25, p=1.0×10⁻⁴). The risk allele (A) was associated with increased frequency of malar rash manifestation in lupus patients (OR=2.83). The study genotyped 17 SNPs in IL21R across 2,573 European and 657 Hispanic lupus cases with ethnically-matched controls.

Traits studied:Malar rashSystemic lupus erythematosus

PubMed DOI Metascience Observatory

About IL4R

This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]