Evidence map›Paper›PMID 21862451›Full record

ArticleHuman molecular genetics2011

GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.

Beben Benyamin, Rita P Middelberg, Penelope A Lind, Anne M Valle, Scott Gordon, Dale R Nyholt, Sarah E Medland, Anjali K Henders, Andrew C Heath, Pamela A F Madden and 5 more

Open access · bronzeAbstract read
In one paragraph

Article 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 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
5.2field-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

27 citing papers in PubMed, 67 citations in OpenAlex.

  1. Article
  2. Observational
  3. Review
  4. Article
  5. Modulatory Neurotransmitter Genotypes Shape Dynamic Functional Connectome Reconfigurations.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
    Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. 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

15 authors at 3 institutions in 2 countries.

Beben BenyaminQueensland Institute of Medical Research, Brisbane 4006, Australia.
Rita P Middelberg
Penelope A Lind
Anne M Valle
Scott Gordon
Dale R Nyholt
Sarah E Medland
Anjali K Henders
Andrew C Heath
Pamela A F Madden
Peter M Visscher
Daniel T O'Connor
Grant W Montgomery
Nicholas G Martin
John B Whitfield
QIMR Berghofer Medical Research Institute · AUUniversity of California, San Diego · USWashington University in St. Louis · US

Funding

Yeast Genetics and Stress Response Genes-BiomedicalP42ES010337 · NIEHS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI TUKEY, ROBERT H · 2000 to 2022
$69.8M
PILOT--GENETIC EPIDEMIOLOGY OF ALCOHOL AND TOBACCO CONSUMPTION IN CHINESE SAMPLEP50AA011998 · NIAAA · WASHINGTON UNIVERSITY · PI SHER, KENNETH JAMES · 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 MADDEN, PAMELA ANN · 2009 to 2013
$8.8M
KINETICS OF DRUG MACROMOLECULE COMPLEX FORMATIONR37GM018360 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI TAYLOR, PALMER WILLIAM · 1999 to 2008
$5.7M
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
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 AA017688NIDA NIH HHS DA12854NIEHS NIH HHS P42 ES010337NIEHS NIH HHS P42-ES010337NIGMS NIH HHS R37 GM018360NIGMS NIH HHS R37-GM18360NIMH NIH HHS MH66206
6 · The paper itself

Abstract

Serum butyrylcholinesterase (BCHE) activity is associated with obesity, blood pressure and biomarkers of cardiovascular and diabetes risk. We have conducted a genome-wide association scan to discover genetic variants affecting BCHE activity, and to clarify whether the associations between BCHE activity and cardiometabolic risk factors are caused by variation in BCHE or whether BCHE variation is secondary to the metabolic abnormalities. We measured serum BCHE in adolescents and adults from three cohorts of Australian twin and family studies. The genotypes from ∼2.4 million single-nucleotide polymorphisms (SNPs) were available in 8791 participants with BCHE measurements. We detected significant associations with BCHE activity at three independent groups of SNPs at the BCHE locus (P = 5.8 × 10(-262), 7.8 × 10(-47), 2.9 × 10(-12)) and at four other loci: RNPEP (P = 9.4 × 10(-16)), RAPH1-ABI2 (P = 4.1 × 10(-18)), UGT1A1 (P = 4.0 × 10(-8)) and an intergenic region on chromosome 8 (P = 1.4 × 10(-8)). These loci affecting BCHE activity were not associated with metabolic risk factors. On the other hand, SNPs in genes previously associated with metabolic risk had effects on BCHE activity more often than can be explained by chance. In particular, SNPs within FTO and GCKR were associated with BCHE activity, but their effects were partly mediated by body mass index and triglycerides, respectively. We conclude that variation in BCHE activity is due to multiple variants across the spectrum from uncommon/large effect to common/small effect, and partly results from (rather than causes) metabolic abnormalities.

Indexed as

Adaptor Proteins, Signal TransducingAdolescentAdultAlpha-Ketoglutarate-Dependent Dioxygenase FTOAminopeptidasesButyrylcholinesteraseCarrier ProteinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeGlucuronosyltransferaseHumansMaleMembrane ProteinsPolymorphism, Single NucleotideAdaptor Proteins, Signal TransducingAlpha-Ketoglutarate-Dependent Dioxygenase FTOaminopeptidase BAminopeptidasesButyrylcholinesteraseCarrier ProteinsFTO protein, humanGCKR protein, humanGlucuronosyltransferaseMembrane ProteinsProteinsRAPH1 protein, humanUGT1A1 Enzyme

Identifiers

PMID21862451
PMCPMC3196893
OpenAlexW2154852548

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.