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WCMC

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

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Locus annotations

Locus 135

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
BGH3 cis Discovery rs3792900 5:135,393,754 T/C 0.47 995 0.449 0.039 4.2×10-29 1.080 1.2×10-28 1.9×10-28
BGH3 cis Replication rs2282791 5:135,377,730 C/A 0.50 337 -0.277 0.056 1.3×10-6 -1.070 1.2×10-5 4.5×10-6

 

Regional association plots

Transforming growth factor-beta-induced protein ig-h3 (BGH3)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Transforming growth factor-beta-induced protein ig-h3 (BGH3)

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

Transforming growth factor-beta-induced protein ig-h3 (BGH3)

Target (abbrv.) BGH3
Target (full name) Transforming growth factor-beta-induced protein ig-h3
Somalogic ID (Sequence ID) SL006544 (3283-21_1)
Entrez Gene Symbol TGFBI
UniProt ID Q15582
UniProt Comment
  • Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.
Pathway Interaction Database
  • Beta1 integrin cell surface interactions
  • Beta2 integrin cell surface interactions
  • Beta3 integrin cell surface interactions
Reactome
  • Amyloids

All locus annotations are based on the sentinel SNP (rs3792900) and 25 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.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • TGFBI transforming growth factor, beta-induced, 68kDa
Potentially regulated genes
eQTL genes
  • TGFBI transforming growth factor, beta-induced, 68kDa
  • SMAD5 SMAD family member 5
  • AC009014.3
  • TRPC7 transient receptor potential cation channel, subfamily C, member 7

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of SMAD5 in peripheral blood monocytes 1.5×10-13 20502693 (PMID) GRASP2 eQTL
cg11482794 (chr5:135364851) 1.5×10-9 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of SMAD5 in blood 2.5×10-9 21829388 (PMID) GRASP2 eQTL
cg00386408 (chr5:135364946) 4.2×10-9 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Breast cancer 1.8×10-6 22923054 (PMID) GRASP2 nonQTL
Response to cytidine analogues (gemcitabine) 4×10-6 24483146 (PMID) GWAS Catalog via SNiPA
Gene expression of FOSL1 in peripheral blood monocytes 8×10-6 20502693 (PMID) GRASP2 eQTL
cg15146621 (chr5:135364544) 1.2×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of TGFBI in liver 1.2×10-5 18462017 (PMID) GRASP2 eQTL
Gemcitabine toxicity as measured by gemcitabine IC50 in lymphoblastoid cell lines 1.6×10-5 19898621 (PMID) GRASP2 eQTL
cg18418457 (chr5:135364304) 1.7×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Alcohol dependence 3.2×10-4 20201924 (PMID) GRASP2 nonQTL