Genetic determinants of freckle occurrence in the Spanish population: Towards ephelides prediction from human DNA samples
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Other documents of the author: Hernando, Barbara; Ibáñez Gual, Maria Victoria; Deserio Cuesta, Julio Alberto; Soria Navarro, Raquel; Vilar Sastre, Inca; Martinez-Cadenas, Conrado
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comunitat-uji-handle2:10234/7037
comunitat-uji-handle3:10234/8635
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Title
Genetic determinants of freckle occurrence in the Spanish population: Towards ephelides prediction from human DNA samplesAuthor (s)
Date
2018-03Publisher
ElsevierBibliographic citation
HERNANDO FUSTER, Bárbara; IBÁÑEZ GUAL, María Victoria; DESERIO CUESTA, Julio Alberto; SORIA NAVARRO, Raquel; VILAR SASTRE, Inca; MARTÍNEZ-CADENAS, Conrado. Genetic determinants of freckle occurrence in the Spanish population: Towards ephelides prediction from human DNA samples. Forensic Science International-Genetics (2018), v. 33, p. 38-47Type
info:eu-repo/semantics/articlePublisher version
http://www.fsigenetics.com/article/S1872-4973(17)30261-2/fulltextVersion
info:eu-repo/semantics/publishedVersionSubject
Abstract
Prediction of human pigmentation traits, one of the most differentiable externally visible characteristics among individuals, from biological samples represents a useful tool in the field of forensic DNA phenotyping. ... [+]
Prediction of human pigmentation traits, one of the most differentiable externally visible characteristics among individuals, from biological samples represents a useful tool in the field of forensic DNA phenotyping. In
spite of freckling being a relatively common pigmentation characteristic in Europeans, little is known about the genetic basis of this largely genetically determined phenotype in southern European populations. In this work,
we explored the predictive capacity of eight freckle and sunlight sensitivity-related genes in 458 individuals (266 non-freckled controls and 192 freckled cases) from Spain. Four loci were associated with freckling (
MC1R
,
IRF4
,
ASIP
and
BNC2
), and female sex was also found to be a predictive factor for having a freckling phenotype in our population. After identifying the most informative genetic variants responsible for human ephelides
occurrence in our sample set, we developed a DNA-based freckle prediction model using a multivariate regression approach. Once developed, the capabilities of the prediction model were tested by a repeated 10-fold cross-
validation approach. The proportion of correctly predicted individuals using the DNA-based freckle prediction model was 74.13%. The implementation of sex into the DNA-based freckle prediction model slightly improved the
overall prediction accuracy by 2.19% (76.32%). Further evaluation of the newly-generated prediction model was performed by assessing the model
’
s performance in a new cohort of 212 Spanish individuals, reaching a
classification success rate of 74.61%. Validation of this prediction model may be carried out in larger populations, including samples from different European populations. Further research to validate and improve this newly-
generated freckle prediction model will be needed before its forensic application. Together with DNA tests already validated for eye and hair colour prediction, this freckle prediction model may lead to a substantially more
detailed physical description of unknown individuals from DNA found at the crime scene. [-]
Is part of
Forensic Science International-Genetics (2018), v. 33Investigation project
This work was supported by grant number GV/2016/156 from the Education Council of the Generalitat Valenciana , and co-funded by the Jaume I University of Castellon: 2) BH is funded by the Jaume I University of Castellon under a Predoctoral Research contract (No. 15721).Rights
http://rightsstatements.org/vocab/CNE/1.0/
info:eu-repo/semantics/openAccess
info:eu-repo/semantics/openAccess
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