Association between brown eye colour in rs12913832:GG individuals and SNPs inTYR,TYRP1, andSLC24A4
Association between brown eye colour in rs12913832:GG individuals and SNPs inTYR,TYRP1, andSLC24A4
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DOI：
10.1371/journal.pone.0239131
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发表时间：
2020-09-11
期刊：
影响因子：
3.7
通讯作者：
Andersen, Jeppe D.
中科院分区：
文献类型：
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作者：
Meyer, Olivia S.;Lunn, Maja M. B.;Andersen, Jeppe D.
单一SNP的基因型rs12913832是蓝色和棕色眼睛颜色的主要预测因子。基因型rs12913832：AA和rs12913832：GA最常见于棕色眼睛的个体，而rs12913832：GG最常见于蓝色眼睛的个体。然而，大约3%的欧洲人rs12913832：GG基因型有棕色眼睛。本研究的目的是确定rs12913832：GG基因型个体棕色眼睛颜色形成的变异。在一项包含40名rs12913832：GG基因型个体的研究中，对SLC24A4、TYRP 1、SLC24A5、IRF4、TYR和SLC45A2周围的基因和调控区域以及HERC2基因内的OCA 2上游区域进行测序。其中，24人被认为是蓝色眼睛，16人被认为是棕色眼睛。我们在与眼睛颜色相关的SLC24A4、TYRP1、IRF4和TYR靶区域内鉴定了211个变异体。基于对预测的变异效应的硅分析，我们认识到四个变异体，TYRP1rs35866166：C，TYRP1rs62538956：C，SLC24A4rs1289469：C，和TYRrs1126809：G，是最有希望解释rs12913832：GG基因型个体棕色眼睛颜色的候选者。在16个棕色眼睛的个体中，有14个个体有4个等位基因，而这些等位基因在蓝眼睛个体中很少见。rs35866166、rs62538956和rs1289469首次被发现与猪的性状相关，而rs1126809先前被发现与猪的变异相关。为了提高眼睛颜色的预测，我们建议未来的眼睛颜色预测模型应该包括rs35866166，rs62538956，rs1289469和rs1126809。
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 surroundingSLC24A4,TYRP1,SLC24A5,IRF4,TYR, andSLC45A2, as well as the upstream region ofOCA2within theHERC2gene 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 theSLC24A4,TYRP1,IRF4, andTYRtarget regions associated with eye colour. Based onin silicoanalyses of predicted variant effects we recognized four variants,TYRP1rs35866166:C,TYRP1rs62538956:C,SLC24A4rs1289469:C, andTYRrs1126809: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.