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

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

ANNALS OF HUMAN GENETICS

WILEY-BLACKWELL PUBLISHING, INC

Año: 2022 vol. 86 p. 297 - 327

0003-4800

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.