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

DIANA MARÍA HOHL; REBECA GONZÁLEZ; GABRIELA PAULA DI SANTO MEZTLER2; JESSICA PATIÑO-RICO; CRISTINA DEJEAN; SERGIO AVENA; MARÍA DE LOS ÁNGELES GUTIÉRREZ; CECILIA CATANESI

ANNALS OF HUMAN GENETICS

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Londres; Año: 2022 vol. 86 p. 1 - 31

0003-4800

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