Evidence map›Paper›PMID 23720494›Full record

SynthesisHuman molecular genetics2013

Genome-wide association study identifies loci affecting blood copper, selenium and zinc.

David M Evans, Gu Zhu, Veronica Dy, Andrew C Heath, Pamela A F Madden, John P Kemp, George McMahon, Beate St Pourcain, Nicholas J Timpson, Jean Golding and 6 more

Abstract readMeta-AnalysisTwin Study
In one paragraph

Synthesis in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 150 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
150citing papers in PubMed, 8 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

150 citing papers in PubMed, 8 syntheses or guidelines pooled it.

  1. Pooled it
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  4. Circulating Copper and Liver Cancer.Biological trace element research · 2023
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  17. Natural variation suggests candidate genes underlying Caenorhabditis elegans susceptibility to diverse toxicants.Toxicological sciences : an official journal of the Society of Toxicology · 2026
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90 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

16 authors.

David M EvansThe authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors and that the last two authors should be regarded as joint Last Authors.
Gu Zhu
Veronica Dy
Andrew C Heath
Pamela A F Madden
John P Kemp
George McMahon
Beate St Pourcain
Nicholas J Timpson
Jean Golding
Debbie A Lawlor
Colin Steer
Grant W Montgomery
Nicholas G Martin
George Davey Smith
John B Whitfield

Funding

THE GENETICS OF VULNERABILITY TO NICOTINE ADDICTIONSR01DA012854 · NIDA · WASHINGTON UNIVERSITY · PI MADDEN, PAMELA ANN · 2000 to 2013
$10.4M
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
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
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Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12013/4Medical Research Council MC_UU_12013/5NIAAA NIH HHS AA007535NIAAA NIH HHS AA013320NIAAA NIH HHS AA013321NIAAA NIH HHS AA013326NIAAA NIH HHS AA014041NIAAA NIH HHS K05 AA017688NIAAA NIH HHS R01 AA007535NIAAA NIH HHS R01 AA013320NIAAA NIH HHS R01 AA013321NIAAA NIH HHS R01 AA013326NIAAA NIH HHS R01 AA014041NIDA NIH HHS DA012854NIDA NIH HHS R01 DA012854NIDA NIH HHS R56 DA012854Wellcome Trust 092731Wellcome Trust W5083431MA
6 · The paper itself

Abstract

Genetic variation affecting absorption, distribution or excretion of essential trace elements may lead to health effects related to sub-clinical deficiency. We have tested for allelic effects of single-nucleotide polymorphisms (SNPs) on blood copper, selenium and zinc in a genome-wide association study using two adult cohorts from Australia and the UK. Participants were recruited in Australia from twins and their families and in the UK from pregnant women. We measured erythrocyte Cu, Se and Zn (Australian samples) or whole blood Se (UK samples) using inductively coupled plasma mass spectrometry. Genotyping was performed with Illumina chips and > 2.5 m SNPs were imputed from HapMap data. Genome-wide significant associations were found for each element. For Cu, there were two loci on chromosome 1 (most significant SNPs rs1175550, P = 5.03 × 10(-10), and rs2769264, P = 2.63 × 10(-20)); for Se, a locus on chromosome 5 was significant in both cohorts (combined P = 9.40 × 10(-28) at rs921943); and for Zn three loci on chromosomes 8, 15 and X showed significant results (rs1532423, P = 6.40 × 10(-12); rs2120019, P = 1.55 × 10(-18); and rs4826508, P = 1.40 × 10(-12), respectively). The Se locus covers three genes involved in metabolism of sulphur-containing amino acids and potentially of the analogous Se compounds; the chromosome 8 locus for Zn contains multiple genes for the Zn-containing enzyme carbonic anhydrase. Where potentially relevant genes were identified, they relate to metabolism of the element (Se) or to the presence at high concentration of a metal-containing protein (Cu).

Indexed as

Polymorphism, Single NucleotideAdultAustraliaChromosomes, HumanCohort StudiesCopperErythrocytesFemaleGenetic LociGenetic VariationGenome-Wide Association StudyGenotypeHumansLongitudinal StudiesMalePregnancyCopperSeleniumZinc

Identifiers

PMID23720494
PMCPMC3766178

What OpenQuestion holds

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Registered trials

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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.