A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.
Alleles
Asian People
Biological Evolution
Epistasis, Genetic
Ethnicity
Eye Color
/ genetics
Female
Gene Expression
Gene Frequency
Genetics, Population
Genome, Human
Genome-Wide Association Study
Guanine Nucleotide Exchange Factors
/ genetics
Humans
Latin America
Male
Membrane Proteins
/ genetics
Membrane Transport Proteins
/ genetics
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Receptor, Metabotropic Glutamate 5
/ genetics
Skin Pigmentation
/ genetics
Ubiquitin-Protein Ligases
White People
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
21 01 2019
21 01 2019
Historique:
received:
24
10
2017
accepted:
20
12
2018
entrez:
22
1
2019
pubmed:
22
1
2019
medline:
6
2
2019
Statut:
epublish
Résumé
We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.
Identifiants
pubmed: 30664655
doi: 10.1038/s41467-018-08147-0
pii: 10.1038/s41467-018-08147-0
pmc: PMC6341102
doi:
Substances chimiques
GRM5 protein, human
0
Guanine Nucleotide Exchange Factors
0
MFSD12 protein, human
0
Membrane Proteins
0
Membrane Transport Proteins
0
OCA2 protein, human
0
Receptor, Metabotropic Glutamate 5
0
HERC2 protein, human
EC 2.3.2.27
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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