rs874040

This is a intergenic variant variant in the RBPJ gene.

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GWAS Catalog Trait Associations (2)

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

rheumatoid arthritis

Stahl EA et al. “Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.” Nature Genetics 42(6):508-514 (2010)
Allele C
OR 1.16
p 1.0e-16
N 25,708
Meta-analysisLarge GWAS
European

gluteofemoral adipose tissue measurement

Agrawal S et al. “Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.” Nature Communications 13(1):3771 (2022)
Allele G
OR 0.04
p 3.0e-8
N 37,641
Large GWAS
European, East Asian, South Asian, African unspecified, NR
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Research that mentions this SNP (2)

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Novel Rheumatoid Arthritis Susceptibility Locus at 22q12 Identified in an Extended UK Genome‐Wide Association Study
AssociationN=8,305Gisela Orozco et al.(2014)· Arthritis &amp; Rheumatology

This extended UK genome-wide association study identified a novel rheumatoid arthritis susceptibility locus at 22q12 (rs1043099, P = 6.9 × 10⁻⁹, OR = 0.84) in 3,034 cases and 5,271 controls, and confirmed 16 previously known RA loci, strengthening evidence for genetic contributors to RA in the UK population.

Traits studied:Rheumatoid arthritis
PubMedDOIMetascience Observatory
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Most common single‐nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans
AssociationN=1,347Hughes LB et al.(2010)· Arthritis &amp; Rheumatism

This study examined 27 previously identified rheumatoid arthritis (RA) risk alleles in 556 autoantibody-positive African-American RA cases and 791 controls. Twenty-four of 27 SNPs showed consistent odds ratios between African-Americans and Europeans; three SNPs (CCR6 rs3093023, TAGAP rs394581, TNFAIP3 rs6920220) showed opposite directions of effect. A genetic risk score analysis indicated that African-American cases were significantly enriched for European RA risk alleles (p=0.00005), suggesting that RA genetic risk factors are largely shared across ancestry groups.

Traits studied:Rheumatoid arthritis
PubMedDOIMetascience Observatory

About RBPJ

The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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