rs12521868

This is a intron variant variant in the IRF1-AS1 gene.

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GWAS Catalog Trait Associations (3)

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

Crohn's disease

Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele T
OR 1.23
p 1.0e-20
N 21,389
Meta-analysisLarge GWAS
European

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele T
OR 0.13
p 2.0e-17
N 1,028,980
Large GWAS
multi-ancestry
Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele T
OR 0.19
p 2.0e-11
N 192,763
Large GWAS
multi-ancestry

soluble transferrin receptor measurement

Allara E et al. “Novel loci and biomedical consequences of iron homoeostasis variation.” Communications Biology 7(1):1631 (2024)
Allele T
OR 0.05
p 4.0e-15
N 45,330
Large GWAS
European
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Research that mentions this SNP (3)

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Contribution of higher risk genes and European admixture to Crohnʼs disease in African Americans
AssociationN=708Ming-Hsi Wang et al.(2012)· Inflammatory Bowel Diseases

Study of 354 African American Crohn's disease cases and 354 controls examined the contribution of European admixture and major established CD risk genes. Mean European ancestry was similar between cases (20.9%) and controls (20.4%, p=0.58). Significant associations were found with NOD2 carrier status (OR 3.28, p=0.007), ATG16L1 Thr300Ala (p=0.003), IBD5 locus genes SLC22A4 L503F (p=0.05) and SLC22A5 g-207c (p=0.03), and IL23R rs2201841 (p=0.03), but not IRGM variants.

Traits studied:Crohn's disease
PubMedDOIMetascience Observatory
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IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn’s disease in Hungarian patients
AssociationN=759Lilla Lakner et al.(2009)· International Journal of Colorectal Disease

A case-control study of 217 Crohn's disease, 252 ulcerative colitis, and 290 control patients in Hungary examining associations with IBD5 locus variants. The IGR2096a_1 T allele (rs12521868) and IGR2198a_1 C allele (rs11739135) showed significantly increased frequencies in Crohn's disease (47.2% and 45.9% vs 38.2% and 37.7% in controls, p<0.05) and were independent risk factors (OR=1.748, 95% CI 1.186-2.574 for T allele; OR=1.646, 95% CI 1.119-2.423 for C allele), while SLC22A4 C1672T and SLC22A5 G-207C variants showed no association.

Traits studied:Crohn's diseaseInflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory
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Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohnʼs disease risk in a population-based case-control study: Evidence of gene–gene interactions
AssociationN=646Toshihiko Okazaki et al.(2008)· Inflammatory Bowel Diseases

Population-based case-control study (213 CD cases, 315 controls) examining associations between IBD5, IL23R, ATG16L1, and NOD2 genetic variants and Crohn's disease risk. IL23R rs10889677 showed the strongest association with CD (OR=2.47, 95% CI 1.70-3.57), while rs11209026 and rs7517848 were protective (OR=0.44 and OR=0.62 respectively). ATG16L1 Thr300Ala showed strong association (homozygote OR=2.38). Evidence suggested gene-gene interactions between IBD5 and IL23R loci.

Traits studied:Crohn's diseaseInflammatory bowel diseaseUlcerative colitis
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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