Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
23720494
TITLE
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
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).
DATE PUBLISHED
2013 Oct 1
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2013/05/29
aheadofprint 2013/07/05
entrez 2013/05/31 06:00
pubmed 2013/05/31 06:00
medline 2014/03/19 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Evans DM Evans David M DM The 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.
Zhu G Zhu Gu G
Dy V Dy Veronica V
Heath AC Heath Andrew C AC
Madden PA Madden Pamela A F PA
Kemp JP Kemp John P JP
McMahon G McMahon George G
St Pourcain B St Pourcain Beate B
Timpson NJ Timpson Nicholas J NJ
Golding J Golding Jean J
Lawlor DA Lawlor Debbie A DA
Steer C Steer Colin C
Montgomery GW Montgomery Grant W GW
Martin NG Martin Nicholas G NG
Smith GD Smith George Davey GD
Whitfield JB Whitfield John B JB
INVESTIGATORS
JOURNAL
VOLUME: 22
ISSUE: 19
TITLE: Human molecular genetics
ISOABBREVIATION: Hum. Mol. Genet.
YEAR: 2013
MONTH: Oct
DAY: 1
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1460-2083
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Mol Genet
COUNTRY: England
ISSNLINKING: 0964-6906
NLMUNIQUEID: 9208958
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Meta-Analysis
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
092731 Wellcome Trust United Kingdom
AA007535 NIAAA NIH HHS United States
AA013320 NIAAA NIH HHS United States
AA013321 NIAAA NIH HHS United States
AA013326 NIAAA NIH HHS United States
AA014041 NIAAA NIH HHS United States
DA012854 NIDA NIH HHS United States
G9815508 Medical Research Council United Kingdom
K05 AA017688 NIAAA NIH HHS United States
MC_UU_12013/3 Medical Research Council United Kingdom
MC_UU_12013/4 Medical Research Council United Kingdom
W5083431MA Wellcome Trust United Kingdom
Medical Research Council United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Australia
Chromosomes, Human
Cohort Studies
Copper blood
Erythrocytes chemistry
Female chemistry
Genetic Loci chemistry
Genetic Variation chemistry
Genome-Wide Association Study chemistry
Genotype chemistry
Great Britain chemistry
Humans chemistry
Longitudinal Studies chemistry
Male chemistry
Polymorphism, Single Nucleotide chemistry
Pregnancy chemistry
Selenium blood
Zinc blood
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
789U1901C5 Copper
H6241UJ22B Selenium
J41CSQ7QDS Zinc
OTHER ID's
OTHERID SOURCE
PMC3766178 NLM