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

Evans, David M., Zhu, Gu, Dy, Veronica, Heath, Andrew C., Madden, Pamela A. F., Kemp, John P., McMahon, George, St Pourcain, Beate, Timpson, Nicholas J., Golding, Jean, Lawlor, Debbie A., Steer, Colin, Montgomery, Grant W., Martin, Nicholas G, Smith, George Davey and Whitfield, John B. (2013) Genome-wide association study identifies loci affecting blood copper, selenium and zinc.. Human Molecular Genetics, 22 19: 3998-4006. doi:10.1093/hmg/ddt239

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Author Evans, David M.
Zhu, Gu
Dy, Veronica
Heath, Andrew C.
Madden, Pamela A. F.
Kemp, John P.
McMahon, George
St Pourcain, Beate
Timpson, Nicholas J.
Golding, Jean
Lawlor, Debbie A.
Steer, Colin
Montgomery, Grant W.
Martin, Nicholas G
Smith, George Davey
Whitfield, John B.
Title Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
Journal name Human Molecular Genetics   Check publisher's open access policy
ISSN 0964-6906
Publication date 2013-05-29
Sub-type Article (original research)
DOI 10.1093/hmg/ddt239
Volume 22
Issue 19
Start page 3998
End page 4006
Total pages 9
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Language eng
Formatted 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 5.03 3 10210, and rs2769264,
P 5 2.63 3 10220); for Se, a locus on chromosome 5 was significant in both cohorts (combinedP 5 9.40 3 10228 at rs921943); and for Zn three loci on chromosomes 8, 15 and X showed significant results (rs1532423, P 5 6.40 3 10212; rs2120019, P 5 1.55 3 10218; and rs4826508, P 5 1.40 3 10212, 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). 
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Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 11 times in Thomson Reuters Web of Science Article | Citations
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Created: Wed, 26 Mar 2014, 11:05:08 EST by David Evans on behalf of UQ Diamantina Institute