HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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

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