Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.
Antiporters
/ genetics
DNA Mutational Analysis
Europe
Eye
/ diagnostic imaging
Eye Color
/ genetics
Forecasting
/ methods
High-Throughput Nucleotide Sequencing
Humans
Membrane Glycoproteins
/ genetics
Models, Genetic
Monophenol Monooxygenase
/ genetics
Oxidoreductases
/ genetics
Photography
Polymorphism, Single Nucleotide
White People
/ genetics
Journal
PloS one
ISSN: 1932-6203
Titre abrégé: PLoS One
Pays: United States
ID NLM: 101285081
Informations de publication
Date de publication:
2020
2020
Historique:
received:
04
02
2020
accepted:
31
08
2020
entrez:
11
9
2020
pubmed:
12
9
2020
medline:
11
11
2020
Statut:
epublish
Résumé
The genotype of a single SNP, rs12913832, is the primary predictor of blue and brown eye colours. The genotypes rs12913832:AA and rs12913832:GA are most often observed in individuals with brown eye colours, whereas rs12913832:GG is most often observed in individuals with blue eye colours. However, approximately 3% of Europeans with the rs12913832:GG genotype have brown eye colours. The purpose of the study presented here was to identify variants that explain brown eye colour formation in individuals with the rs12913832:GG genotype. Genes and regulatory regions surrounding SLC24A4, TYRP1, SLC24A5, IRF4, TYR, and SLC45A2, as well as the upstream region of OCA2 within the HERC2 gene were sequenced in a study comprising 40 individuals with the rs12913832:GG genotype. Of these, 24 individuals were considered to have blue eye colours and 16 individuals were considered to have brown eye colours. We identified 211 variants within the SLC24A4, TYRP1, IRF4, and TYR target regions associated with eye colour. Based on in silico analyses of predicted variant effects we recognized four variants, TYRP1 rs35866166:C, TYRP1 rs62538956:C, SLC24A4 rs1289469:C, and TYR rs1126809:G, to be the most promising candidates for explanation of brown eye colour in individuals with the rs12913832:GG genotype. Of the 16 individuals with brown eye colours, 14 individuals had four alleles, whereas the alleles were rare in the blue eyed individuals. rs35866166, rs62538956, and rs1289469 were for the first time found to be associated with pigmentary traits, whilst rs1126809 was previously found to be associated with pigmentary variation. To improve prediction of eye colours we suggest that future eye colour prediction models should include rs35866166, rs62538956, rs1289469, and rs1126809.
Identifiants
pubmed: 32915910
doi: 10.1371/journal.pone.0239131
pii: PONE-D-20-03107
pmc: PMC7485777
doi:
Substances chimiques
Antiporters
0
Membrane Glycoproteins
0
SLC24A4 protein, human
0
Oxidoreductases
EC 1.-
TYRP1 protein, human
EC 1.14.18.-
Monophenol Monooxygenase
EC 1.14.18.1
Types de publication
Journal Article
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
e0239131Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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