Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.
Hysi PG., Valdes AM., Liu F., Furlotte NA., Evans DM., Bataille V., Visconti A., Hemani G., McMahon G., Ring SM., Smith GD., Duffy DL., Zhu G., Gordon SD., Medland SE., Lin BD., Willemsen G., Jan Hottenga J., Vuckovic D., Girotto G., Gandin I., Sala C., Concas MP., Brumat M., Gasparini P., Toniolo D., Cocca M., Robino A., Yazar S., Hewitt AW., Chen Y., Zeng C., Uitterlinden AG., Ikram MA., Hamer MA., van Duijn CM., Nijsten T., Mackey DA., Falchi M., Boomsma DI., Martin NG., International Visible Trait Genetics Consortium None., Hinds DA., Kayser M., Spector TD.
Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a genome-wide association study meta-analysis of almost 300,000 participants of European descent. We identified 123 autosomal and one X-chromosome loci significantly associated with hair color; all but 13 are novel. Collectively, single-nucleotide polymorphisms associated with hair color within these loci explain 34.6% of red hair, 24.8% of blond hair, and 26.1% of black hair heritability in the study populations. These results confirm the polygenic nature of complex phenotypes and improve our understanding of melanin pigment metabolism in humans.