Abstract
The study of Externally Visible Characteristics (EVC) of pigmentation associated with SNPs (Single Nucleotide Polymorphisms) has become a target in the forensic field due to the possibility of phenotypically characterizing an individual. In Brazil, there are few data that shows the evaluation of some these markers, so further studies are necessary to understand better the pigmentation process related to genetic markers. The aim of this study was to test the association between 8 SNPs present in HIrisplex tool and EVC to provide a starting point for the development of prediction models for heterogeneous populations like the one in Pernambuco. Were evaluated 176 individuals by associations between self-reported eye, hair and skin color data and polymorphisms. Artificial intelligence tools were used for the prediction models. Significant associations were found between rs1800404 (OCA2), rs6058017 (ASIP), rs16891982 (SLC45A2) and rs1426654 (SLC24A5) with (EVC). The prediction models evaluated showed satisfactory prediction rates, rates above 60% for skin color and above 70% for eyes and hair. The associations found in our data show the importance of SNPs evaluation used in DNA Phenotyping, because of its ability to provide new information in the context of criminal investigations. Our data indicate that is possible to use molecular information to predict phenotypes in miscigenated populations, like the Brazilian population. These polymorphisms could be possible phenotypic predictors for the Pernambuco population.
Highlights
Forensic DNA Phenotyping (FDP) is the prediction of appearance traits from DNA present in biological samples (Queirós, 2019)
The first studies with FDP began in the 2000s (Koops & Schellekens, 2006), This technology can be applied in criminal investigation scenarios, such as identifying missing persons, when DNA samples collected at crime scenes do not match the profiles stored in forensic DNA databases and there are no other leads for investigation or available eyewitnesses
Our results suggest that rs6058017, rs16891982 and rs1426654 polymorphisms may be used as phenotypic predictors of skin color and rs1800404 may be used as phenotypic predictor to skin, hair and eye color in Pernambuco population, Brazil, along with other markers that are associated with these same characteristics
Summary
Forensic DNA Phenotyping (FDP) is the prediction of appearance traits from DNA present in biological samples (Queirós, 2019). The first studies with FDP began in the 2000s (Koops & Schellekens, 2006), This technology can be applied in criminal investigation scenarios, such as identifying missing persons, when DNA samples collected at crime scenes do not match the profiles stored in forensic DNA databases and there are no other leads for investigation or available eyewitnesses. This technique can be used to identifying people in mass disasters (Queirós, 2019). The FDP advantage over other commonly used methodologies, such as Short Tandem Repeat (STR) for example, is that there is no need for a reference sample for comparative analysis, but it is based on the association between genotypes and phenotypes, based on molecular markers already validated for the interest phenotype (Kayser, 2015)
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