title: Common variants in the trichohyalin gene are associated with straight hair in Europeans.
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.
authors.affiliation: Queensland Institute of Medical Research, Brisbane 4029, Australia. sarahme@qimr.edu.au
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Medland
authors.forename: Dale R
authors.initials: DR
authors.lastname: Nyholt
authors.forename: Jodie N
authors.initials: JN
authors.lastname: Painter
authors.forename: Brian P
authors.initials: BP
authors.lastname: McEvoy
authors.forename: Allan F
authors.initials: AF
authors.lastname: McRae
authors.forename: Gu
authors.initials: G
authors.lastname: Zhu
authors.forename: Scott D
authors.initials: SD
authors.lastname: Gordon
authors.forename: Manuel A R
authors.initials: MA
authors.lastname: Ferreira
authors.forename: Margaret J
authors.initials: MJ
authors.lastname: Wright
authors.forename: Anjali K
authors.initials: AK
authors.lastname: Henders
authors.forename: Megan J
authors.initials: MJ
authors.lastname: Campbell
authors.forename: David L
authors.initials: DL
authors.lastname: Duffy
authors.forename: Narelle K
authors.initials: NK
authors.lastname: Hansell
authors.forename: Stuart
authors.initials: S
authors.lastname: Macgregor
authors.forename: Wendy S
authors.initials: WS
authors.lastname: Slutske
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Heath
authors.forename: Grant W
authors.initials: GW
authors.lastname: Montgomery
authors.forename: Nicholas G
authors.initials: NG
authors.lastname: Martin
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001315:Australia / Q000208:ethnology; D002648:Child; D002878:Chromosomes, Human, Pair 1; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D005843:Geography; D006197:Hair / Q000033:anatomy & histology*; D018859:Hair Follicle / Q000033:anatomy & histology; D006239:Haplotypes; D006801:Humans; D007381:Intermediate Filament Proteins; D007621:Karyotyping; D015810:Linkage Disequilibrium; D008297:Male; D015201:Meta-Analysis as Topic; D008715:Methionine / Q000378:metabolism; D008969:Molecular Sequence Data; D009679:Nuclear Family; D020641:Polymorphism, Single Nucleotide; D011498:Protein Precursors / Q000235:genetics*; D044465:White People / Q000235:genetics*; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D007381:Intermediate Filament Proteins; D011498:Protein Precursors; C016159:trichohyalin; D008715:Methionine