rs1728785

This is a intron variant variant in the ZFP90 gene.

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GWAS Catalog Trait Associations (1)

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

ulcerative colitis

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 G
OR 1.17
p 3.0e-8
N 7,778
Large GWAS
European
Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele G
OR 1.07
p 4.0e-8
N 34,366
Large GWAS
European
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Research that mentions this SNP (2)

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Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci
Meta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology

This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.

Traits studied:Celiac diseaseCrohn's diseaseMultiple sclerosisPsoriasisRheumatoid arthritisSystemic lupus erythematosusType 1 diabetesUlcerative colitis
PubMedDOIMetascience Observatory
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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

About ZFP90

This gene encodes a member of the zinc finger protein family that modulates gene expression. The encoded protein derepresses the transcription of certain fetal cardiac genes and may contribute to the genetic reprogramming that occurs during the development of heart failure. Genome wide association studies have identified this gene among ulcerative colitis risk loci. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]

View all ZFP90 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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