Evidence map›Paper›PMID 21943158›Full record

ArticleBMC medical genetics2011

Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

Rita P S Middelberg, Manuel A R Ferreira, Anjali K Henders, Andrew C Heath, Pamela A F Madden, Grant W Montgomery, Nicholas G Martin, John B Whitfield

Abstract read
In one paragraph

Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 5 pooled it
–field-weighted citation impact
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

63 citing papers in PubMed, 5 syntheses or guidelines pooled it.

  1. Pooled it
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  4. Pleiotropic genes for metabolic syndrome and inflammation.Molecular genetics and metabolism · 2014
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3 more citing papers are in PubMed but not listed here.

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

8 authors.

Rita P S MiddelbergGenetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia. Rita.Middelberg@qimr.edu.au
Manuel A R Ferreira
Anjali K Henders
Andrew C Heath
Pamela A F Madden
Grant W Montgomery
Nicholas G Martin
John B Whitfield

Funding

PILOT--GENETIC EPIDEMIOLOGY OF ALCOHOL AND TOBACCO CONSUMPTION IN CHINESE SAMPLEP50AA011998 · NIAAA · WASHINGTON UNIVERSITY · PI TODD, RICHARD D · 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
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
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
Refining Phenotypic Measures of Nicotine WithdrawalK08DA019951 · NIDA · WASHINGTON UNIVERSITY · PI PERGADIA, MICHELE L · 2005 to 2009
$659k
The Genetics of Vulnerability to Nicotine AddictionsR56DA012854 · NIDA · WASHINGTON UNIVERSITY · PI MADDEN, PAMELA ANN · 2007 to 2007
$436k
NIAAA NIH HHS AA07535NIAAA NIH HHS AA11998NIAAA NIH HHS AA13320NIAAA NIH HHS AA13321NIAAA NIH HHS AA14041NIAAA NIH HHS AA17688NIAAA NIH HHS K05 AA017688NIDA NIH HHS DA012854NIDA NIH HHS DA019951NIDA NIH HHS K08 DA019951Wellcome Trust WT084766/Z/08/Z
6 · The paper itself

Abstract

backgroundGenome-wide association studies (GWAS) have become a major strategy for genetic dissection of human complex diseases. Analysing multiple phenotypes jointly may improve both our ability to detect genetic variants with multiple effects and our understanding of their common features. Allelic associations for multiple biochemical traits (serum alanine aminotransferase, aspartate aminotransferase, butrylycholinesterase (BCHE), C-reactive protein (CRP), ferritin, gamma glutamyltransferase (GGT), glucose, high-density lipoprotein cholesterol (HDL), insulin, low-density lipoprotein cholesterol (LDL), triglycerides and uric acid), and body-mass index, were examined.

methodsWe aimed to identify common genetic variants affecting more than one of these traits using genome-wide association analysis in 2548 adolescents and 9145 adults from 4986 Australian twin families. Multivariate and univariate associations were performed.

resultsMultivariate analyses identified eight loci, and univariate association analyses confirmed two loci influencing more than one trait at p < 5 × 10-8. These are located on chromosome 8 (LPL gene affecting HDL and triglycerides) and chromosome 19 (TOMM40/APOE-C1-C2-C4 gene cluster affecting LDL and CRP). A locus on chromosome 12 (OASL gene) showed effects on GGT, LDL and CRP. The loci on chromosomes 12 and 19 unexpectedly affected LDL cholesterol and CRP in opposite directions.

conclusionsWe identified three possible loci that may affect multiple traits and validated 17 previously-reported loci. Our study demonstrated the usefulness of examining multiple phenotypes jointly and highlights an anomalous effect on CRP, which is increasingly recognised as a marker of cardiovascular risk as well as of inflammation.

Indexed as

2',5'-Oligoadenylate SynthetaseAdolescentAdultAllelesApolipoprotein C-IApolipoprotein C-IIApolipoproteins CApolipoproteins ECardiovascular DiseasesDiseases in TwinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLipoprotein LipaseMale2',5'-Oligoadenylate SynthetaseAPOC1 protein, humanAPOC4 protein, humanApolipoprotein C-IApolipoprotein C-IIApolipoproteins CApolipoproteins ELipoprotein LipaseMembrane Transport ProteinsMitochondrial Precursor Protein Import Complex ProteinsOASL protein, humanTOMM40 protein, human

Identifiers

PMID21943158
PMCPMC3189113

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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.