Abstract

To develop a specific predictive model for the forensic casework for the Belarusian population, we set up an investigation of the connection between candidate pigmentation SNPs and quantitatively measured eye color of individuals. 471 participants were genotyped for rs12913832 (HERC2) and rs1800407 (OCA2) using TaqMan approach. The obtained data were confirmed by sequencing. The SNP allele distribution in the target regions of the individuals under research was shifted to the G-alleles for both spots: 82% - rs12913832:G, 91% - rs1800407:G. In accordance with the dominant model, brown eye color is characteristic of individuals with allele A (rs12913832:A > G). However, in our research this is not always true for genotypes rs12913832:GA – 41% occurrences were detected with intermediate eye color. Further, we have found the effect of the HERC2-OCA2 variation on the light/dark iris color grade. High values of OR (>53.99) for rs12913832 confirmed their strong relationship with iris color. The impact of rs1800407 (<7.78) was significantly weaker. The logistic regression revealed a low percentage (3.9%) of incorrect predictions: 97.3% of light-eyed individuals and 92.9% of dark-eyed individuals were correctly classified through HERC2(rs12913832)/OCA2(rs1800407) model.

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