Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up
Year: 2015
Type: article
Study design: Observational Study
Abstract: 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.
Source: Human Genetics
Authors: Fan Liu, Mijke Visser, David L. Duffy, Pirro G. Hysi, Leonie C. Jacobs, Oscar Lao, Kaiyin Zhong, Susan Walsh, Lakshmi Chaitanya, Andreas Wollstein, Gu Zhu, Grant W. Montgomery, Anjali K. Henders, Massimo Mangino, Daniel Glass, Veronique Bataille, Richard A. Sturm, Fernando Rivadeneira, Albert Hofman, Wilfred F. J. van IJcken, André G. Uitterlinden, Robert-Jan T. S. Palstra, Timothy D. Spector, Nicholas G. Martin, Tamar E. C. Nijsten, Manfred Kayser
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,690
Funders: Wellcome Trust, National Institute for Health and Care Research, Nederlandse Organisatie voor Wetenschappelijk Onderzoek, Medical Research Council, Biotechnology and Biological Sciences Research Council, National Eye Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: International Collaborative Twin Study of Refractive and Glaucoma Endophenotypes, META-DAC - Managing Ethico-social and Technical issues and Administration of Data Access Committee, Genetic influences on the brain: A twin imaging study, G3839646794, G494123624, NIHR Senior Investigator Award, G8629017599
OpenAlex ID: W1750145230