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
25963972
TITLE
Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.
ABSTRACT
NlmCategory: UNASSIGNED
In the International Visible Trait Genetics (VisiGen) Consortium, we investigated the genetics of human skin color by combining a series of genome-wide association studies (GWAS) in a total of 17,262 Europeans with functional follow-up of discovered loci. Our GWAS provide the first genome-wide significant evidence for chromosome 20q11.22 harboring the ASIP gene being explicitly associated with skin color in Europeans. In addition, genomic loci at 5p13.2 (SLC45A2), 6p25.3 (IRF4), 15q13.1 (HERC2/OCA2), and 16q24.3 (MC1R) were confirmed to be involved in skin coloration in Europeans. In follow-up gene expression and regulation studies of 22 genes in 20q11.22, we highlighted two novel genes EIF2S2 and GSS, serving as competing functional candidates in this region and providing future research lines. A genetically inferred skin color score obtained from the 9 top-associated SNPs from 9 genes in 940 worldwide samples (HGDP-CEPH) showed a clear gradual pattern in Western Eurasians similar to the distribution of physical skin color, suggesting the used 9 SNPs as suitable markers for DNA prediction of skin color in Europeans and neighboring populations, relevant in future forensic and anthropological investigations.
DATE PUBLISHED
2015 May 12
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2015/01/29
accepted 2015/04/20
aheadofprint 2015/05/12
entrez 2015/05/13 06:00
pubmed 2015/05/13 06:00
medline 2015/05/13 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Liu F Liu Fan F Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands, f.liu@erasmusmc.nl.
Visser M Visser Mijke M
Duffy DL Duffy David L DL
Hysi PG Hysi Pirro G PG
Jacobs LC Jacobs Leonie C LC
Lao O Lao Oscar O
Zhong K Zhong Kaiyin K
Walsh S Walsh Susan S
Chaitanya L Chaitanya Lakshmi L
Wollstein A Wollstein Andreas A
Zhu G Zhu Gu G
Montgomery GW Montgomery Grant W GW
Henders AK Henders Anjali K AK
Mangino M Mangino Massimo M
Glass D Glass Daniel D
Bataille V Bataille Veronique V
Sturm RA Sturm Richard A RA
Rivadeneira F Rivadeneira Fernando F
Hofman A Hofman Albert A
van IJcken WF van IJcken Wilfred F J WF
Uitterlinden AG Uitterlinden André G AG
Palstra RJ Palstra Robert-Jan T S RJ
Spector TD Spector Timothy D TD
Martin NG Martin Nicholas G NG
Nijsten TE Nijsten Tamar E C TE
Kayser M Kayser Manfred M
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: Human genetics
ISOABBREVIATION: Hum. Genet.
YEAR: 2015
MONTH: May
DAY: 12
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1432-1203
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Genet
COUNTRY: Germany
ISSNLINKING: 0340-6717
NLMUNIQUEID: 7613873
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
JOURNAL ARTICLE
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