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WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 368

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
TFF3 trans Discovery rs2524277 6:31,407,579 G/A 0.04 995 0.782 0.109 1.2×10-12 1.210 1.9×10-7 0.015

 

Regional association plots

 

Boxplots and histograms for top associations

Trefoil factor 3 (TFF3)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study

Trefoil factor 3 (TFF3)

Target (abbrv.) TFF3
Target (full name) Trefoil factor 3
Somalogic ID (Sequence ID) SL006119 (4721-54_2)
Entrez Gene Symbol TFF3
UniProt ID Q07654
UniProt Comment
  • Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen).
Biomarker applications (based on IPA annotation)
  • diagnosis
  • unspecified application
Pathway Interaction Database
  • HIF-1-alpha transcription factor network
  • IL4-mediated signaling events

All locus annotations are based on the sentinel SNP (rs2524277) and 2 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.

Linked genes


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Genes hit or close-by
  • NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
eQTL genes
  • SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
  • TCF19 transcription factor 19
  • PSORS1C2 psoriasis susceptibility 1 candidate 2
  • HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene)

 

Results from other genome-wide association studies

Trait P Study Source
Ulcerative collitis 1.2×10-6 Supplemental file
Inflammatory bowel disease 1.2×10-5 Supplemental file