Common variants in the trichohyalin gene are associated with straight hair in Europeans

Am J Hum Genet. 2009 Nov;85(5):750-5. doi: 10.1016/j.ajhg.2009.10.009. Epub 2009 Nov 5.

Abstract

Hair morphology is highly differentiated between populations and among people of European ancestry. Whereas hair morphology in East Asian populations has been studied extensively, relatively little is known about the genetics of this trait in Europeans. We performed a genome-wide association scan for hair morphology (straight, wavy, curly) in three Australian samples of European descent. All three samples showed evidence of association implicating the Trichohyalin gene (TCHH), which is expressed in the developing inner root sheath of the hair follicle, and explaining approximately 6% of variance (p=1.5x10(-31)). These variants are at their highest frequency in Northern Europeans, paralleling the distribution of the straight-hair EDAR variant in Asian populations.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Australia / ethnology
  • Child
  • Chromosomes, Human, Pair 1
  • Cohort Studies
  • Female
  • Gene Frequency
  • Genetic Markers
  • Genetic Variation*
  • Genetics, Population
  • Genome, Human
  • Genome-Wide Association Study
  • Genotype
  • Geography
  • Hair / anatomy & histology*
  • Hair Follicle / anatomy & histology
  • Haplotypes
  • Humans
  • Intermediate Filament Proteins
  • Karyotyping
  • Linkage Disequilibrium
  • Male
  • Meta-Analysis as Topic
  • Methionine / metabolism
  • Molecular Sequence Data
  • Nuclear Family
  • Polymorphism, Single Nucleotide
  • Protein Precursors / genetics*
  • White People / genetics*
  • Young Adult

Substances

  • Genetic Markers
  • Intermediate Filament Proteins
  • Protein Precursors
  • trichohyalin
  • Methionine