rs2227491

This is a intron variant variant in the IL22 gene.

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GWAS Catalog Trait Associations (3)

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

atopic eczema

Budu-Aggrey A et al. “European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.” Nature Communications 14(1):6172 (2023)
Allele C
OR 1.05
p 1.0e-71
N 864,982
Meta-analysisLarge GWAS
European
Pasanen A et al. “Identifying Atopic Dermatitis Risk Loci in 1,094,060 Individuals with Subanalysis of Disease Severity and Onset.” The Journal of Investigative Dermatology 144(11):2417-2425 (2024)
Allele C
OR 0.07
p 2.0e-17
N 1,094,060
Large GWAS
multi-ancestry
Chen Y et al. “Genome-Wide Integration of Genetic and Genomic Studies of Atopic Dermatitis: Insights into Genetic Architecture and Pathogenesis.” The Journal of Investigative Dermatology 142(11):2958-2967.e8 (2022)
Allele C
OR 0.06
p 4.0e-12
N 837,496
Large GWAS
multi-ancestry

Eczematoid dermatitis

Grosche S et al. “Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.” Nature Communications 12(1):6618 (2021)
Allele C
OR 1.08
p 3.0e-12
N 400,449
Large GWAS
European

About IL22

This gene is a member of the IL10 family of cytokines that mediate cellular inflammatory responses. The encoded protein functions in antimicrobial defense at mucosal surfaces and in tissue repair. This protein also has pro-inflammatory properties and plays a role in in the pathogenesis of several intestinal diseases. The encoded protein is a crucial cytokine that regulates host immunity in infectious diseases, including COVID-19 (disease caused by SARS-CoV-2). [provided by RefSeq, Dec 2021]

View all IL22 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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