Prediction of eye and hair pigmentation phenotypes using the HIrisPlex system in a Brazilian admixed population sample

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Autor(es): dc.contributorUniversidade de São Paulo (USP)-
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.creatorCarratto, Thássia Mayra Telles-
Autor(es): dc.creatorMarcorin, Letícia-
Autor(es): dc.creatordo Valle-Silva, Guilherme-
Autor(es): dc.creatorde Oliveira, Maria Luiza Guimarães-
Autor(es): dc.creatorDonadi, Eduardo Antônio-
Autor(es): dc.creatorSimões, Aguinaldo Luiz-
Autor(es): dc.creatorCastelli, Erick C. [UNESP]-
Autor(es): dc.creatorMendes-Junior, Celso Teixeira-
Data de aceite: dc.date.accessioned2022-02-22T00:51:00Z-
Data de disponibilização: dc.date.available2022-02-22T00:51:00Z-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2020-12-31-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1007/s00414-021-02554-7-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/207665-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/207665-
Descrição: dc.descriptionHuman pigmentation is a complex trait, probably involving more than 100 genes. Predicting phenotypes using SNPs present in those genes is important for forensic purpose. For this, the HIrisPlex tool was developed for eye and hair color prediction, with both models achieving high accuracy among Europeans. Its evaluation in admixed populations is important, since they present a higher frequency of intermediate phenotypes, and HIrisPlex has demonstrated limitations in such predictions; therefore, the performance of this tool may be impaired in such populations. Here, we evaluate the set of 24 markers from the HIrisPlex system in 328 individuals from Ribeirão Preto (SP) region, predicting eye and hair color and comparing the predictions with their real phenotypes. We used the HaloPlex Target Enrichment System and MiSeq Personal Sequencer platform for massively parallel sequencing. The prediction of eye and hair color was accomplished by the HIrisPlex online tool, using the default prediction settings. Ancestry was estimated using the SNPforID 34-plex to observe if and how an individual’s ancestry background would affect predictions in this admixed sample. Our sample presented major European ancestry (70.5%), followed by African (21.1%) and Native American/East Asian (8.4%). HIrisPlex presented an overall sensitivity of 0.691 for hair color prediction, with sensitivities ranging from 0.547 to 0.782. The lowest sensitivity was observed for individuals with black hair, who present a reduced European contribution (48.4%). For eye color prediction, the overall sensitivity was 0.741, with sensitivities higher than 0.85 for blue and brown eyes, although it failed in predicting intermediate eye color. Such struggle in predicting this phenotype category is in accordance with what has been seen in previous studies involving HIrisPlex. Individuals with brown eye color are more admixed, with European ancestry decreasing to 62.6%; notwithstanding that, sensitivity for brown eyes was almost 100%. Overall sensitivity increases to 0.791 when a 0.7 threshold is set, though 12.5% of the individuals become undefined. When combining eye and hair prediction, hit rates between 51.3 and 68.9% were achieved. Despite the difficulties with intermediate phenotypes, we have shown that HIrisPlex results can be very helpful when interpreted with caution.-
Descrição: dc.descriptionDepartamento de Química Laboratório de Pesquisas Forenses e Genômicas Faculdade de Filosofia Ciências e Letras de Ribeirão Preto Universidade de São Paulo, Av. Bandeirantes, 3900-
Descrição: dc.descriptionDepartamento de Genética Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo-
Descrição: dc.descriptionDivisão de Imunologia Clínica Departamento de Clínica Médica Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo-
Descrição: dc.descriptionDepartamento de Patologia Faculdade de Medicina de Botucatu Unesp - Universidade Estadual Paulista-
Descrição: dc.descriptionDepartamento de Patologia Faculdade de Medicina de Botucatu Unesp - Universidade Estadual Paulista-
Idioma: dc.languageen-
Relação: dc.relationInternational Journal of Legal Medicine-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectDNA phenotyping-
Palavras-chave: dc.subjectForensic DNA phenotyping-
Palavras-chave: dc.subjectForensic genetics-
Palavras-chave: dc.subjectMassively parallel sequencing-
Palavras-chave: dc.subjectSNPs-
Título: dc.titlePrediction of eye and hair pigmentation phenotypes using the HIrisPlex system in a Brazilian admixed population sample-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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