rs9268839

badMag 7.5

This is a intergenic variant variant in the HLA-DRB1 gene.

Key Literature Trait Associations

Rheumatoid Arthritis

Intergenic variant in the HLA class II region near HLA-DRB1, the strongest known genetic risk factor for rheumatoid arthritis. The G allele was associated with a 2.47-fold increased risk in a trans-ethnic GWAS meta-analysis of 29,880 RA cases and 73,758 controls of European and Asian ancestry. This SNP tags HLA-DRB1 shared-epitope alleles that drive aberrant antigen presentation to T cells in RA pathogenesis.

Okada Y et al. “Genetics of rheumatoid arthritis contributes to biology and drug discovery.” Nature 506(7488):376-381 (2014)
Allele G
OR 2.47
p 1.0e-250
Large GWAS

CDH17/SPINT1 protein level ratio in blood

The A allele of rs9268839 (complementary to the RA risk G allele) is associated with a decrease in the CDH17/SPINT1 protein level ratio in blood, with beta = −0.089 (SE=0.0069) at p=2×10⁻³⁸ in a UK Biobank Olink proteomics study of 43,509 European ancestry individuals. This rQTL signal reflects the extensive cis-regulatory influence of the HLA/6p21 region on nearby protein expression. The biological relevance of this specific ratio to disease is not established, but the finding illustrates the broad regulatory effects of MHC-region variants on the plasma proteome.

Suhre K et al. “Genetic associations with ratios between protein levels detect new pQTLs and reveal protein-protein interactions.” Cell Genomics (2024)
Allele A
OR —
β -0.089 ±0.007
p 2.0e-38
N 43,509
Large GWAS
European
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GWAS Catalog Trait Associations (1)

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

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