Evidence map›Paper›PMID 31163085›Full record

ArticleHuman molecular genetics2019

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

Sodbo Zh Sharapov, Yakov A Tsepilov, Lucija Klaric, Massimo Mangino, Gaurav Thareja, Alexandra S Shadrina, Mirna Simurina, Concetta Dagostino, Julia Dmitrieva, Marija Vilaj and 21 more

Open access · bronzeAbstract read
In one paragraph

Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 2 pooled it
5.1field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. Article
  6. Article
  7. Article
  8. Challenges and opportunities for omics-based precision medicine in chronic low back pain.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2025
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  11. Glycosylation in aging and neurodegenerative diseases.Acta biochimica et biophysica Sinica · 2024
    Review
  12. The Human BloodJACS Au · 2024
    Review
  13. Article
  14. The Association of the Polymorphisms in theInternational journal of molecular sciences · 2023
    Article
  15. High-Throughput Glycomic Methods.Chemical reviews · 2022
    Review
  16. Article
  17. Article
  18. Review
  19. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

31 authors at 11 institutions in 9 countries.

Sodbo Zh SharapovInstitute of Cytology and Genetics SB RAS, Prospekt Lavrentyeva 10, Novosibirsk, Russia.
Yakov A TsepilovInstitute of Cytology and Genetics SB RAS, Prospekt Lavrentyeva 10, Novosibirsk, Russia.
Lucija KlaricMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Crewe Road South, Edinburgh, UK.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King's College London, St Thomas' Campus, London, UK.
Gaurav TharejaDepartment of Physiology and Biophysics, Weill Cornell Medicine-Qatar, Education City, Doha, Qatar.
Alexandra S ShadrinaNovosibirsk State University, 1, Pirogova str., Novosibirsk, Russia.
Mirna SimurinaFaculty of Pharmacy and Biochemistry, University of Zagreb, Ante Kovacica 1, Zagreb, Croatia.
Concetta DagostinoDepartment of Medicine and Surgery, University of Parma, Via Gramsci 14, Parma, Italy.
Julia DmitrievaUnit of Animal Genomics, WELBIO, GIGA-R and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
Marija VilajGenos Glycoscience Research Laboratory, Borongajska cesta 83h, Zagreb, Croatia.
Frano VuckovicGenos Glycoscience Research Laboratory, Borongajska cesta 83h, Zagreb, Croatia.
Tamara PavicFaculty of Pharmacy and Biochemistry, University of Zagreb, Ante Kovacica 1, Zagreb, Croatia.
Jerko StambukGenos Glycoscience Research Laboratory, Borongajska cesta 83h, Zagreb, Croatia.
Irena Trbojevic-AkmacicGenos Glycoscience Research Laboratory, Borongajska cesta 83h, Zagreb, Croatia.
Jasminka KristicGenos Glycoscience Research Laboratory, Borongajska cesta 83h, Zagreb, Croatia.
Jelena SimunovicGenos Glycoscience Research Laboratory, Borongajska cesta 83h, Zagreb, Croatia.
Ana MomcilovicGenos Glycoscience Research Laboratory, Borongajska cesta 83h, Zagreb, Croatia.
Harry CampbellCentre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh, Edinburgh, UK.
Margaret DohertyInstitute of Technology Sligo, Department of Life Sciences, Sligo, Ireland.
Malcolm G DunlopColon Cancer Genetics Group, MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh, UK.
Susan M FarringtonColon Cancer Genetics Group, MRC Human Genetics Unit, MRC Institute of Genetics & Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh, UK.
Maja Pucic-BakovicGenos Glycoscience Research Laboratory, Borongajska cesta 83h, Zagreb, Croatia.
Christian GiegerInstitute of Epidemiology II, Research Unit of Molecular Epidemiology, Helmholtz Centre Munich, German Research Center for Environmental Health, Ingolstädter Landstr. 1, Neuherberg, Germany.
Massimo AllegriPain Therapy Department, Policlinico Monza Hospital, Monza, Italy.
Edouard LouisCHU-Liège and Unit of Gastroenterology, GIGA-R and Faculty of Medicine, University of Liège, 1 Avenue de l'Hôpital, Liège, Belgium.
Michel GeorgesUnit of Animal Genomics, WELBIO, GIGA-R and Faculty of Veterinary Medicine, University of Liège, Liège, Belgium.
Karsten SuhreDepartment of Physiology and Biophysics, Weill Cornell Medicine-Qatar, Education City, Doha, Qatar.
Tim SpectorDepartment of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King's College London, St Thomas' Campus, London, UK.
Frances M K WilliamsDepartment of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King's College London, St Thomas' Campus, London, UK.
Gordan LaucGenos Glycoscience Research Laboratory, Borongajska cesta 83h, Zagreb, Croatia.
Yurii S AulchenkoInstitute of Cytology and Genetics SB RAS, Prospekt Lavrentyeva 10, Novosibirsk, Russia.
Genos (Croatia) · HRNovosibirsk State University · RUKing's College London · GBUniversity of Liège · BEUniversity of Zagreb · HRWestern General Hospital · GBWeill Cornell Medical College in Qatar · QAFondazione Lanza · ITHelmholtz Zentrum München · DENational Institute for Bioprocessing Research and Training · IEUniversity of Parma · IT

Funding

Cancer Research UK 12076Cancer Research UK 18927Medical Research Council G0600237Medical Research Council G0600329Medical Research Council MC_PC_U127527198Medical Research Council MC_U127527198Medical Research Council MC_UU_00007/1Medical Research Council MC_UU_00007/10Medical Research Council MR/K018647/1Medical Research Council MR/R026408/1Wellcome Trust
6 · The paper itself

Abstract

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.

Indexed as

Chromatography, High Pressure LiquidCohort StudiesFucosyltransferasesGenome-Wide Association StudyGlucuronosyltransferaseGlycoproteinsGlycosylationGlycosyltransferasesHepatocyte Nuclear Factor 1-alphaHumansImmunoglobulin GMembrane ProteinsPolymorphism, GeneticPolysaccharidesQuantitative Trait LociDERL3 protein, humanFucosyltransferasesFUT6 protein, humangalactosylgalactoylxylosylprotein 3-beta-glucuronosyltransferaseGlucuronosyltransferaseGlycoproteinsglycosylated IgGGlycosyltransferasesHepatocyte Nuclear Factor 1-alphaHNF1A protein, humanImmunoglobulin GMembrane ProteinsPolysaccharides

Identifiers

PMID31163085
PMCPMC6664388
OpenAlexW2952580906

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.