Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina

IF 1 4区 生物学 Q4 GENETICS & HEREDITY Annals of Human Genetics Pub Date : 2022-08-10 DOI:10.1111/ahg.12480
Diana María Hohl, Rebeca González, Gabriela Paula Di Santo Meztler, Jessica Patiño-Rico, Cristina Dejean, Sergio Avena, María De Los Ángeles Gutiérrez, Cecilia Inés Catanesi
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引用次数: 2

Abstract

Eye color prediction based on an individual's genetic information is of interest in the field of forensic genetics. In recent years, researchers have studied different genes and markers associated with this externally visible characteristic and have developed methods for its prediction. The IrisPlex represents a validated tool for homogeneous populations, though its applicability in populations of mixed ancestry is limited, mainly regarding the prediction of intermediate eye colors. With the aim of validating the applicability of this system in an admixed population from Argentina (n = 302), we analyzed the six single nucleotide variants used in that multiplex for eye color and four additional SNPs, and evaluated its prediction ability. We also performed a genotype–phenotype association analysis. This system proved to be useful when dealing with the extreme ends of the eye color spectrum (blue and brown) but presented difficulties in determining the intermediate phenotypes (green), which were found in a large proportion of our population. We concluded that these genetic tools should be used with caution in admixed populations and that more studies are required in order to improve the prediction of intermediate phenotypes.

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IrisPlex系统在阿根廷混合种群眼睛颜色预测中的适用性
基于个体遗传信息的眼睛颜色预测是法医遗传学领域的研究热点。近年来,研究人员研究了与这种外部可见特征相关的不同基因和标记,并开发了预测这种特征的方法。IrisPlex代表了一种有效的工具,用于同质人群,尽管它在混合血统人群中的适用性有限,主要是关于中间眼睛颜色的预测。为了验证该系统在阿根廷混合人群中的适用性(n = 302),我们分析了该多重组合中用于眼睛颜色的6个单核苷酸变体和另外4个snp,并评估了其预测能力。我们还进行了基因型-表型关联分析。该系统在处理眼睛颜色光谱的极端末端(蓝色和棕色)时被证明是有用的,但在确定中间表型(绿色)时存在困难,这在我们的大部分人群中都发现了。我们的结论是,这些遗传工具在混合群体中应该谨慎使用,并且需要更多的研究来改善中间表型的预测。
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来源期刊
Annals of Human Genetics
Annals of Human Genetics 生物-遗传学
CiteScore
4.20
自引率
0.00%
发文量
34
审稿时长
3 months
期刊介绍: Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.
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