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Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.
- Source :
-
Human genetics [Hum Genet] 2015 Aug; Vol. 134 (8), pp. 823-35. Date of Electronic Publication: 2015 May 12. - Publication Year :
- 2015
-
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.
- Subjects :
- Agouti Signaling Protein genetics
Antigens, Neoplasm genetics
Female
Follow-Up Studies
Guanine Nucleotide Exchange Factors genetics
Humans
Interferon Regulatory Factors genetics
Male
Membrane Transport Proteins genetics
Middle Aged
Ubiquitin-Protein Ligases
United Kingdom
Chromosomes, Human genetics
Genetic Loci
Genome-Wide Association Study
Polymorphism, Single Nucleotide
Skin Pigmentation genetics
White People genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1432-1203
- Volume :
- 134
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 25963972
- Full Text :
- https://doi.org/10.1007/s00439-015-1559-0