HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 51

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Fucosyltransferase 3 cis Discovery rs778986 19:5,844,537 G/A 0.20 996 -0.930 0.047 8.8×10-73 -1.350 7.2×10-45 0.008
Fucosyltransferase 3 cis Replication rs812936 19:5,844,649 A/G 0.18 337 -0.845 0.085 1.2×10-20 -1.400 1.9×10-13 0.254

 

Regional association plots

Galactoside 3(4)-L-fucosyltransferase (Fucosyltransferase 3)

 

Boxplots and histograms for top associations

Galactoside 3(4)-L-fucosyltransferase (Fucosyltransferase 3)

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

Galactoside 3(4)-L-fucosyltransferase (Fucosyltransferase 3)

Target (abbrv.) Fucosyltransferase 3
Target (full name) Galactoside 3(4)-L-fucosyltransferase
Somalogic ID (Sequence ID) SL005575 (4548-4_2)
Entrez Gene Symbol FUT3
UniProt ID P21217
UniProt Comment
  • May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme. Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links.
UniPathway
  • protein glycosylation
Pathway Studio
  • Lacto- and neolacto-type glycosphingolipid biosynthesis

All locus annotations are based on the sentinel SNP (rs778986) and 1 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
  • FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
  • AC024592.9
  • FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase)

 

Results from other genome-wide association studies

Trait P Study Source
Height 2.4×10-4 25282103 (PMID) Supplemental file

Glycosylation.

This locus harbours a replicated cis-pQTL to Galactoside 3(4)-L-fucosyltransferase (FUT3). It is discussed in the main text.

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.