Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4

Autor:	Niels Morling, Maja M. B. Lunn, Anne B. Kjærbye, Claus Børsting, Olivia Strunge Meyer, Jeppe Dyrberg Andersen, Sara L. Garcia
Rok vydání:	2020
Předmět:	0301 basic medicine European People Heredity genetic structures Single Nucleotide Polymorphisms DNA Mutational Analysis Gene Expression Eye Biochemistry Antiporters 0302 clinical medicine Genotype Medicine and Health Sciences Eye color Photography Ethnicities TYRP1 Genetics OCA2 Multidisciplinary Membrane Glycoproteins biology Eye Color Monophenol Monooxygenase High-Throughput Nucleotide Sequencing Genomics Italian People Europe Genetic Mapping Medicine Anatomy Oxidoreductases Research Article SLC45A2 Science Variant Genotypes Single-nucleotide polymorphism SLC24A5 Polymorphism Single Nucleotide White People 03 medical and health sciences Ocular System DNA-binding proteins Genome-Wide Association Studies Humans Gene Regulation 030216 legal & forensic medicine Allele Alleles Biology and life sciences Models Genetic Proteins Computational Biology Human Genetics Genome Analysis eye diseases Regulatory Proteins 030104 developmental biology Genetic Loci People and Places biology.protein Eyes Population Groupings sense organs Head Transcription Factors Forecasting
Zdroj:	Meyer, O S, Lunn, M M B, Garcia, S L, Kjærbye, A B, Morling, N, Børsting, C & Andersen, J D 2020, ' Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4 ', PLoS ONE, vol. 15, no. 9, pp. e0239131 . https://doi.org/10.1371/journal.pone.0239131 PLoS ONE PLoS ONE, Vol 15, Iss 9, p e0239131 (2020)
ISSN:	1932-6203
DOI:	10.1371/journal.pone.0239131
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e4c16666ebc0b69295270e72193831 https://pubmed.ncbi.nlm.nih.gov/32915910 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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