Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

Nat Genet. 2018 May;50(5):652-656. doi: 10.1038/s41588-018-0100-5. Epub 2018 Apr 16.

Abstract

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.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Chromosomes, Human, X
  • European Continental Ancestry Group / genetics*
  • Female
  • Genetic Loci*
  • Genome-Wide Association Study / methods
  • Hair Color / genetics*
  • Humans
  • Male
  • Middle Aged
  • Multifactorial Inheritance*
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics*