PuSH - Publication Server of Helmholtz Zentrum München: Defining the genetic control of human blood plasma N-glycome using genome-wide association study.

Information

Clues to quality of journals

Open Access Policy of Helmholtz Association 2016

CC Licencences

Publication Metrics

Navigation

Home

Deutsch

EVA: Electronic Publishing

New EVA Application

Research

Advanced Search

Browse by ...

... HMGU-Authors/Consortia

... Organizational Structure

... Journal

... Publication Type

... Research Data

... Arbeitsgruppen

... Publication Year

Publication overview

Statistics

Statistics (last 5 years)

OA Publications

Publish

Submit Publication

Import publication from...

...EVA

Report missing publication

Highlights

Support & Contact

Contact persons

Help

Data protection

Helmholtz Open Science

JANE Journal Estimator

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Sharapov, S.Z.* ; Tsepilov, Y.A.* ; Klaric, L.* ; Mangino, M.* ; Thareja, G.* ; Shadrina, A.S.* ; Simurina, M.* ; Dagostino, C.* ; Dmitrieva, J.* ; Vilaj, M.* ; Vučković, F.* ; Pavić, T.* ; Stambuk, J.* ; Trbojević-Akmačić, I.* ; Krištić, J.* ; Simunovic, J.* ; Momcilovic, A.* ; Campbell, H.* ; Doherty, M.* ; Dunlop, M.G.* ; Farrington, S.M.* ; Pučić-Baković, M.* ; Gieger, C. ; Allegri, M.* ; Louis, E.* ; Georges, M.* ; Suhre, K.* ; Spector, T.* ; Williams, F.M.K.* ; Lauc, G.* ; Aulchenko, Y.S.*

Defining the genetic control of human blood plasma N-glycome using genome-wide association study.

Hum. Mol. Genet. 28, 2062-2077 (2019)

Publ. Version/Full Text

Postprint

Research data

DOI

PMC

	Open Access Green

Abstract
Metrics
Extra information

Glycosylation is a common post-translational modification of proteins. Glycosylation is associated with a number of human diseases. Defining genetic factors altering glycosylation may provide a basis for novel approaches to diagnostic and pharmaceutical applications. Here we report a genome-wide association study of the human blood plasma N-glycome composition in up to 3811 people measured by Ultra Performance Liquid Chromatography (UPLC) technology. Starting with the 36 original traits measured by UPLC, we computed an additional 77 derived traits leading to a total of 113 glycan traits. We studied associations between these traits and genetic polymorphisms located on human autosomes. We discovered and replicated 12 loci. This allowed us to demonstrate an overlap in genetic control between total plasma protein and IgG glycosylation. The majority of revealed loci contained genes that encode enzymes directly involved in glycosylation (FUT3/FUT6, FUT8, B3GAT1, ST6GAL1, B4GALT1, ST3GAL4, MGAT3 and MGAT5) and a known regulator of plasma protein fucosylation (HNF1A). However, we also found loci that could possibly reflect other more complex aspects of glycosylation process. Functional genomic annotation suggested the role of several genes including DERL3, CHCHD10, TMEM121, IGH and IKZF1. The hypotheses we generated may serve as a starting point for further functional studies in this research area.

Impact Factor

Scopus SNIP

Web of Science
Times Cited

Scopus
Cited By

Altmetric

4.544

1.155