FERNANDA DE TOLEDO GONCALVES

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LIM/40 - Laboratório de Imunohematologia e Hematologia Forense, Hospital das Clínicas, Faculdade de Medicina

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  • article 3 Citação(ões) na Scopus
    Evaluation of HIrisplex-S system markers for eye, skin and hair color prediction in an admixed Brazilian population
    (2019) MARANO, Leonardo A.; ANDERSEN, Jeppe D.; GONCALVES, Fernanda T.; GARCIA, Ana Laura O.; FRIDMAN, Cintia
    The inference of externally visible characteristics (i.e. skin, eye and hair color, height and facial features) from biological trace samples is known as Forensic DNA Phenotyping. The HIrisPlex-S system is a forensically validated tool for simultaneous eye, hair, and skin color prediction from DNA and has been reported to reach predictive power for skin colors, but investigations have mainly been carried out in homogeneous populations with minor admixture features. In this study, we present the first evaluation of the HIrisPlex-S system in an admixed population. A total of 611 Brazilian individuals were genotyped for 39 out of the 41 HIrisPlex-S markers, distributed in 19 genes/gene regions (MC1R, TUBB3, SLC45A2, KITLG, LOC105374875, IRF4, TYR, OCA2, SLC24A4, HERC2, PIGU, LOC105370627, TYRP1, ANKRD11, BNC2, SLC24A5, ASIP, RALY and DEF8). The remaining 2 markers are being typed and will be added to the final analysis. The predictions of eye, hair, and skin color were carried out using the HIrisPlex-S prediction model. The results were compared to the phenotypes for each individual, and the Area Under the Curve (AUC) for each phenotype feature was calculated using R statistics software. AUC values were found to be higher for blue eye (0.88), brown eye (0.67), black hair (0.69), fair skin (0.70) and dark skin (0.70). Intermediate phenotypes reached lower values compared to those of the extreme phenotypes (light/dark). Our results demonstrate that the HIrisPlex-S system markers have great potential for use in admixed populations, including the Brazilian, but our results also demonstrate that the intermediate color groups are difficult to predict.