Evidence map›Paper›PMID 21665994›Full record

SynthesisHuman molecular genetics2011

Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.

Zoltán Kutalik, Beben Benyamin, Sven Bergmann, Vincent Mooser, Gérard Waeber, Grant W Montgomery, Nicholas G Martin, Pamela A F Madden, Andrew C Heath, Jacques S Beckmann and 3 more

Open access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
2.8field-weighted citation impact, top 9% 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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Translational Molecular Approaches in Substance Abuse Research.Handbook of experimental pharmacology · 2020
    Review
  6. A decade in psychiatric GWAS research.Molecular psychiatry · 2019
    Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Review
  16. Article
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

13 authors at 7 institutions in 4 countries.

Zoltán KutalikDepartment of Medical Genetics, University of Lausanne, Lausanne, 1005, Switzerland. zoltan.kutalik@unil.ch
Beben Benyamin
Sven Bergmann
Vincent Mooser
Gérard Waeber
Grant W Montgomery
Nicholas G Martin
Pamela A F Madden
Andrew C Heath
Jacques S Beckmann
Peter Vollenweider
Pedro Marques-Vidal
John B Whitfield
QIMR Berghofer Medical Research Institute · AUSIB Swiss Institute of Bioinformatics · CHWashington University in St. Louis · USGlaxoSmithKline (United States) · USInstitute of Social and Preventive Medicine · CHLaboratory of Molecular Genetics · PLUniversity of Lausanne · CH

Funding

PILOT--GENETIC EPIDEMIOLOGY OF ALCOHOL AND TOBACCO CONSUMPTION IN CHINESE SAMPLEP50AA011998 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 1999 to 2008
$12.6M
THE GENETICS OF VULNERABILITY TO NICOTINE ADDICTIONSR01DA012854 · NIDA · WASHINGTON UNIVERSITY · PI MADDEN, PAMELA ANN · 2000 to 2013
$10.4M
Resource CoreP60AA011998 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2009 to 2013
$8.8M
Molecular Epidemiology of Alcoholism 3 - EDAC FamiliesR01AA013321 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2001 to 2005
$4.3M
Molecular Epidemiology of Alcoholism 2- Big SibshipsR01AA013320 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2003 to 2007
$3.1M
Genetic Epidemiology of Pathological GamblingR01MH066206 · NIMH · UNIVERSITY OF MISSOURI-COLUMBIA · PI SLUTSKE, WENDY S · 2003 to 2007
$2.5M
Molecular Epidemiology of Alcoholism 1: Candidate GeneR01AA013326 · NIAAA · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI MARTIN, NICHOLAS G · 2001 to 2005
$2.1M
VARIATION IN THE EFFECTS OF ALCOHOL ON LIVER FUNCTIONR01AA014041 · NIAAA · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI WHITFIELD, JOHN B · 2003 to 2007
$2.1M
GENE-ENVIRONMENT INTERPLAY IN ALCOHOLISMK05AA017688 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2008 to 2017
$1.9M
The Genetics of Vulnerability to Nicotine AddictionsR56DA012854 · NIDA · WASHINGTON UNIVERSITY · PI MADDEN, PAMELA ANN · 2007 to 2007
$436k
PERSISTENCE &CHANGE IN DRINKING HABITS: TWIN STUDYR01AA007535 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 1989 to 1996
–
NIAAA NIH HHS AA07535NIAAA NIH HHS AA10248NIAAA NIH HHS AA11998NIAAA NIH HHS AA13320NIAAA NIH HHS AA13321NIAAA NIH HHS AA13326NIAAA NIH HHS AA14041NIAAA NIH HHS AA17688NIAAA NIH HHS K05 AA017688NIAAA NIH HHS P50 AA011998NIAAA NIH HHS R01 AA007535NIAAA NIH HHS R01 AA013320NIAAA NIH HHS R01 AA013321NIAAA NIH HHS R01 AA013326NIAAA NIH HHS R01 AA014041NIDA NIH HHS DA12854NIDA NIH HHS R01 DA012854NIDA NIH HHS R56 DA012854NIMH NIH HHS MH66206NIMH NIH HHS R01 MH066206
6 · The paper itself

Abstract

Polysaccharide sidechains attached to proteins play important roles in cell-cell and receptor-ligand interactions. Variation in the carbohydrate component has been extensively studied for the iron transport protein transferrin, because serum levels of the transferrin isoforms asialotransferrin + disialotransferrin (carbohydrate-deficient transferrin, CDT) are used as biomarkers of excessive alcohol intake. We conducted a genome-wide association study to assess whether genetic factors affect CDT concentration in serum. CDT was measured in three population-based studies: one in Switzerland (CoLaus study, n = 5181) and two in Australia (n = 1509, n = 775). The first cohort was used as the discovery panel and the latter ones served as replication. Genome-wide single-nucleotide polymorphism (SNP) typing data were used to identify loci with significant associations with CDT as a percentage of total transferrin (CDT%). The top three SNPs in the discovery panel (rs2749097 near PGM1 on chromosome 1, and missense polymorphisms rs1049296, rs1799899 in TF on chromosome 3) were successfully replicated , yielding genome-wide significant combined association with CDT% (P = 1.9 × 10(-9), 4 × 10(-39), 5.5 × 10(-43), respectively) and explain 5.8% of the variation in CDT%. These allelic effects are postulated to be caused by variation in availability of glucose-1-phosphate as a precursor of the glycan (PGM1), and variation in transferrin (TF) structure.

Indexed as

Genome-Wide Association StudyAdultAgedAged, 80 and overAlcohol DrinkingCohort StudiesFemaleGlycosylationHumansMaleMiddle AgedPolymorphism, Single NucleotideSwitzerlandTransferrinWhite Peoplecarbohydrate-deficient transferrinTransferrin

Identifiers

PMID21665994
PMCPMC3159549
OpenAlexW2154102361

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.