Genome-Wide Association Meta-Analysis of Individuals of European Ancestry Identifies New Loci Explaining a Substantial Fraction of Hair Color Variation and Heritability

    April 2018 in “ Nature Genetics ”
    Pirro G. Hysi, Ana M. Valdes, Fan Liu, Nicholas A. Furlotte, David M. Evans, Véronique Bataille, Alessia Visconti, Gibran Hemani, George Davey Smith, Susan M. Ring, George Davey Smith, David L. Duffy, Gu Zhu, Scott D. Gordon, Sarah E. Medland, Bochao Lin, Gonneke Willemsen, Jouke‐Jan Hottenga, Dragana Vuckovic, Giorgia Girotto, Ilaria Gandin, Cinzia Sala, Maria Pina Concas, Marco Brumat, Paolo Gasparini, Daniela Toniolo, Massimiliano Cocca, Antonietta Robino, Seyhan Yazar, Alex W. Hewitt, Yan Chen, Changqing Zeng, André G. Uitterlinden, M. Arfan Ikram, Merel A. Hamer, Cornelia M. van Duijn, Tamar Nijsten, David A. Mackey, Mario Falchi, Dorret I. Boomsma, Nicholas G. Martin, David A. Hinds, Manfred Kayser, Tim D. Spector
    TLDR New genetic locations explain much of hair color variation in Europeans.
    The study conducted a genome-wide association meta-analysis on nearly 300,000 individuals of European ancestry, identifying 123 autosomal and one X-chromosome loci associated with hair color, with 110 being novel. These loci explained 34.6% of red hair, 24.8% of blond hair, and 26.1% of black hair heritability, confirming the polygenic nature of hair color. The research also found significant sex-related differences in hair color reporting. The findings enhanced the understanding of genetic factors influencing hair color, melanin metabolism, and improved hair color prediction models, with implications for future research in human pigmentation and forensic science.
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