Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
| Autor: | Joanna Karłowska-Pik, Michał Boroń, Ewelina Pośpiech, Wojciech Branicki, Michał Dąbrowski, Agata Jarosz, Magdalena Spólnicka, Tomasz Grzybowski, Piotr Zieliński, Magdalena Kukla-Bartoszek, Magdalena Zubańska, Rafał Płoski, Anna Woźniak |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0106 biological sciences
Aging lcsh:QH426-470 lcsh:Biotechnology Genetic genealogy Population Kinesins Single-nucleotide polymorphism Computational biology Biology FGF5 01 natural sciences Polymorphism Single Nucleotide 03 medical and health sciences lcsh:TP248.13-248.65 Exome Sequencing Genetics medicine Humans Exome Targeted next-generation sequencing education Hair Color Exome sequencing Selection (genetic algorithm) KIF1A 030304 developmental biology 0303 health sciences education.field_of_study DNA medicine.disease Head hair greying lcsh:Genetics Hair loss Whole-exome sequencing Trait Prediction modelling 010606 plant biology & botany Biotechnology Research Article |
| Zdroj: | BMC Genomics BMC Genomics, Vol 21, Iss 1, Pp 1-18 (2020) |
| Popis: | Background Greying of the hair is an obvious sign of human aging. In addition to age, sex- and ancestry-specific patterns of hair greying are also observed and the progression of greying may be affected by environmental factors. However, little is known about the genetic control of this process. This study aimed to assess the potential of genetic data to predict hair greying in a population of nearly 1000 individuals from Poland. Results The study involved whole-exome sequencing followed by targeted analysis of 378 exome-wide and literature-based selected SNPs. For the selection of predictors, the minimum redundancy maximum relevance (mRMRe) method was used, and then two prediction models were developed. The models included age, sex and 13 unique SNPs. Two SNPs of the highest mRMRe score included whole-exome identified KIF1A rs59733750 and previously linked with hair loss FGF5 rs7680591. The model for greying vs. no greying prediction achieved accuracy of cross-validated AUC = 0.873. In the 3-grade classification cross-validated AUC equalled 0.864 for no greying, 0.791 for mild greying and 0.875 for severe greying. Although these values present fairly accurate prediction, most of the prediction information was brought by age alone. Genetic variants explained Conclusions The rate of changes in human progressive traits shows inter-individual variation, therefore they are perceived as biomarkers of the biological age of the organism. The knowledge on the mechanisms underlying phenotypic aging can be of special interest to the medicine, cosmetics industry and forensics. Our study improves the knowledge on the genetics underlying hair greying processes, presents prototype models for prediction and proves hair greying being genetically a very complex trait. Finally, we propose a four-step approach based on genetic and epigenetic data analysis allowing for i) sex determination; ii) genetic ancestry inference; iii) greying-associated SNPs assignment and iv) epigenetic age estimation, all needed for a final prediction of greying. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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