Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population

- All SNPs are good predictors of human pigmentation traits in Brazilian population.
- OCA2 rs1800416 SNP was associated with human pigmentation for the first time.
- Eight haplotypes were associated with at least two pigmentation traits.
- Population differences must be considered in selecting SNPs as color predictors.

Panels composed of Single Nucleotide Polymorphisms (SNPs) in genes related to pigmentation, when associated with different phenotypes, may assist in predicting the physical appearance of an individual, being very useful in forensic caseworks. We evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. All the seven SNPs evaluated presented one allele associated with phenotypes from at least two pigmentation features and the alternative allele associated with the opposite phenotypes from the same trait. The genotypic associations followed the same pattern for all seven SNPs. Nine haplotypes were observed in our sample and eight were associated with at least two pigmentation traits. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population.

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