Hohl Diana María, González Rebeca, Di Santo Meztler Gabriela Paula, Patiño-Rico Jessica, Dejean Cristina, Avena Sergio, Gutiérrez María De Los Ángeles, Catanesi Cecilia Inés
Laboratorio de Diversidad Genética, Instituto Multidisciplinario de Biología Celular IMBICE (CONICET-UNLP-CIC), La Plata, Buenos Aires, Argentina.
Centro de Investigación de Proteínas Vegetales (CIPROVE-Centro Asociado CICPBA-UNLP), Depto. de Cs. Biológicas, Facultad de Cs. Exactas, Universidad Nacional de La Plata (UNLP), La Plata, Buenos Aires, Argentina.
Ann Hum Genet. 2022 Nov;86(6):297-327. doi: 10.1111/ahg.12480. Epub 2022 Aug 10.
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.
基于个体遗传信息的眼睛颜色预测在法医遗传学领域备受关注。近年来，研究人员研究了与这一外在可见特征相关的不同基因和标记，并开发了预测方法。IrisPlex是针对同质人群的一种经过验证的工具，不过其在混合血统人群中的适用性有限，主要体现在对中间眼睛颜色的预测方面。为了验证该系统在阿根廷一个混合血统人群（n = 302）中的适用性，我们分析了该多重检测中用于眼睛颜色预测的六个单核苷酸变体以及另外四个单核苷酸多态性，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两端（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，而在我们的人群中很大一部分人具有这种中间表型。我们得出结论，在混合血统人群中应谨慎使用这些遗传工具，并且需要更多研究来改进对中间表型的预测。
