Genetic Epidemiology, Translational Neurogenomics, Psychiatric 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
20616560
TITLE
Genetic differences between five European populations.
ABSTRACT
AIMS NlmCategory: OBJECTIVE
We sought to examine the magnitude of the differences in SNP allele frequencies between five European populations (Scotland, Ireland, Sweden, Bulgaria and Portugal) and to identify the loci with the greatest differences.
METHODS NlmCategory: METHODS
We performed a population-based genome-wide association analysis with Affymetrix 6.0 and 5.0 arrays. We used a 4 degrees of freedom χ(2) test to determine the magnitude of stratification for each SNP. We then examined the genes within the most stratified regions, using a highly conservative cutoff of p < 10(-45).
RESULTS NlmCategory: RESULTS
We found 40,593 SNPs which are genome-wide significantly (p ≤ 10(-8)) stratified between these populations. The largest differences clustered in gene ontology categories for immunity and pigmentation. Some of the top loci span genes that have already been reported as highly stratified: genes for hair color and pigmentation (HERC2, EXOC2, IRF4), the LCT gene, genes involved in NAD metabolism, and in immunity (HLA and the Toll-like receptor genes TLR10, TLR1, TLR6). However, several genes have not previously been reported as stratified within European populations, indicating that they might also have provided selective advantages: several zinc finger genes, two genes involved in glutathione synthesis or function, and most intriguingly, FOXP2, implicated in speech development.
CONCLUSION NlmCategory: CONCLUSIONS
Our analysis demonstrates that many SNPs show genome-wide significant differences within European populations and the magnitude of the differences correlate with the geographical distance. At least some of these differences are due to the selective advantage of polymorphisms within these loci.
Copyright © 2010 S. Karger AG, Basel.
DATE PUBLISHED
2010
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2010/01/15
accepted 2010/04/17
aheadofprint 2010/07/08
entrez 2010/07/10 06:00
pubmed 2010/07/10 06:00
medline 2015/06/19 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Moskvina V Moskvina Valentina V MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.
Smith M Smith Michael M
Ivanov D Ivanov Dobril D
Blackwood D Blackwood Douglas D
StClair D StClair David D
Hultman C Hultman Christina C
Toncheva D Toncheva Draga D
Gill M Gill Michael M
Corvin A Corvin Aiden A
O'Dushlaine C O'Dushlaine Colm C
Morris DW Morris Derek W DW
Wray NR Wray Naomi R NR
Sullivan P Sullivan Patrick P
Pato C Pato Carlos C
Pato MT Pato Michele T MT
Sklar P Sklar Pamela P
Purcell S Purcell Shaun S
Holmans P Holmans Peter P
O'Donovan MC O'Donovan Michael C MC
Owen MJ Owen Michael J MJ
Kirov G Kirov George G
International Schizophrenia Consortium
INVESTIGATORS
JOURNAL
VOLUME: 70
ISSUE: 2
TITLE: Human heredity
ISOABBREVIATION: Hum. Hered.
YEAR: 2010
MONTH:
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1423-0062
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Hered
COUNTRY: Switzerland
ISSNLINKING: 0001-5652
NLMUNIQUEID: 0200525
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
R01 MH077139 NIMH NIH HHS United States
R01 MH080403 NIMH NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
European Continental Ancestry Group genetics
Genetics, Population genetics
Humans genetics
Lactase genetics
Polymorphism, Single Nucleotide genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
EC 3.2.1.108 Lactase
OTHER ID's