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

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Locus annotations

Locus 190

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 rs28362459 19:5,844,792 A/C 0.10 987 -0.676 0.071 1.1×10-20 -1.230 3.4×10-12 0.327
Fucosyltransferase 3 cis Replication rs3760775 19:5,841,356 C/A 0.14 337 -0.630 0.097 2.9×10-10 -1.210 1.9×10-4 0.055

 

Regional association plots

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

Download the association data used to generate this plot

 

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 (rs28362459).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes


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Genes hit or close-by
  • FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
  • AC024592.9

 

Results from other genome-wide association studies


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No associations available.

Co-association with total protein N-glycosylation, IgG N-glycosylation, and cancer markers

This locus is discussed in the main paper.

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.