rs6017342

This is a downstream gene variant variant.

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GWAS Catalog Trait Associations (2)

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

ulcerative colitis

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele C
OR 1.23
p 1.0e-43
N 34,366
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.13
p 7.0e-11
N 596,621
Large GWAS
multi-ancestry
Zeng Y et al. “Genetic Associations Between Stress-Related Disorders and Autoimmune Disease.” The American Journal of Psychiatry 180(4):294-304 (2023)
Allele C
OR 0.87
p 2.0e-9
N 376,871
Large GWAS
European
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 C
OR 1.20
p 1.0e-20
N 26,405
Meta-analysisLarge GWAS
European
Barrett JC et al. “Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.” Nature Genetics 41(12):1330-4 (2009)
Allele C
OR 1.17
p 9.0e-17
N 7,778
Large GWAS
European

inflammatory bowel disease

Wu Y et al. “GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression.” Nature Communications 12(1):1146 (2021)
Allele A
OR 0.88
p 2.0e-14
N 456,327
Large GWAS
European
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Research that mentions this SNP (1)

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HNF4α and CDH1 are associated with ulcerative colitis in a Dutch cohort
AssociationN=2,081Suzanne van Sommeren et al.(2011)· Inflammatory Bowel Diseases

This is the first independent replication study confirming that HNF4α (rs6017342, OR=1.56, p=1.04×10⁻¹¹) and CDH1 (rs1728785, OR=1.23, p=0.01) loci are susceptibility loci for ulcerative colitis in a Dutch cohort of 821 UC patients and 1260 healthy controls. The LAMB1 locus (rs6949033) was not significantly associated (p=0.12). Both HNF4α and CDH1 encode proteins crucial for maintaining epithelial barrier function and intestinal mucosa integrity.

Traits studied:Inflammatory 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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