title: Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population.
abstract: 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.
authors.affiliation: Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900 Ribeirão Preto-SP, Brazil.
authors.forename: Edilene S
authors.initials: ES
authors.lastname: Andrade
authors.affiliation: Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900 Ribeirão Preto-SP, Brazil.
authors.forename: Nádia C A
authors.initials: NCA
authors.lastname: Fracasso
authors.affiliation: Departamento de Biologia, Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo, 14040-901 Ribeirão Preto-SP, Brazil.
authors.forename: Paulo S
authors.initials: PS
authors.lastname: Strazza Júnior
authors.affiliation: Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900 Ribeirão Preto-SP, Brazil.
authors.forename: Aguinaldo L
authors.initials: AL
authors.lastname: Simões
authors.affiliation: Departamento de Química, Laboratório de Pesquisas Forenses e Genômicas, Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo, 14040-901 Ribeirão Preto-SP, Brazil. Electronic address: ctmendes@ffclrp.usp.br.
authors.forename: Celso T
authors.initials: CT
authors.lastname: Mendes-Junior
mesh_terms: D016115:Albinism, Oculocutaneous / Q000097:blood / Q000235:genetics*; D001938:Brazil; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000097:blood / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012880:Skin Pigmentation / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C118566:HERC2 protein, human; D044767:Ubiquitin-Protein Ligases
keywords: Brazilian population; Forensic; HERC2; OCA2; Pigmentation; Polymorphisms