rs6871626

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (3)

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

inflammatory bowel disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele A
OR 1.18
p 1.0e-42
N 34,366
Large GWAS
European

ulcerative colitis

Anderson CA et al. “Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.” Nature Genetics 43(3):246-52 (2011)
Allele A
OR 1.17
p 1.0e-21
N 26,405
Meta-analysisLarge GWAS
European

ankylosing spondylitis

Cortes A et al. “Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.” Nature Genetics 45(7):730-8 (2013)
Allele A
OR 1.10
p 3.0e-8
N 25,764
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Single nucleotide polymorphisms of IL12B are associated with Takayasu arteritis in Chinese Han population
AssociationN=1,009Xiaoting Wen et al.(2017)· Rheumatology International

Case-control study of 412 Chinese Han Takayasu arteritis patients and 597 controls identified four IL12B SNPs significantly associated with disease susceptibility: rs6871626 (OR=1.52, 95% CI 1.26-1.83), rs4921492 (OR=1.46), rs60689680 (OR=1.41), and rs4921493 (OR=1.45). Meta-analysis across four populations confirmed rs6871626 as a susceptible locus (pooled OR=1.51). IL6 rs2069837 showed no association.

Traits studied:Takayasu arteritis
PubMedDOIMetascience Observatory
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A novel susceptibility locus for Takayasu arteritis in the IL12B region can be a genetic marker of disease severity
AssociationN=90Takayoshi Matsumura et al.(2016)· Heart and Vessels

In a cohort of 90 Japanese Takayasu arteritis (TAK) patients, SNP rs6871626 in the IL12B region showed significant association with disease severity, with homozygous variant A allele carriers having an odds ratio of 3.75 (95% CI 1.13-13.5; p=0.03) for severe disease defined by early onset (<20 years), steroid resistance, or disease relapse. The study suggests rs6871626 could be a genetic marker for identifying TAK patients at high risk of treatment refractoriness.

Traits studied:Disease severity in Takayasu arteritisTakayasu arteritis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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