Common variants in the trichohyalin gene are associated with straight hair in Europeans.
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.
Medland
Sarah E
SE
Queensland Institute of Medical Research, Brisbane 4029, Australia. sarahme@qimr.edu.au
Nyholt
Dale R
DR
Painter
Jodie N
JN
McEvoy
Brian P
BP
McRae
Allan F
AF
Zhu
Gu
G
Gordon
Scott D
SD
Ferreira
Manuel A R
MA
Wright
Margaret J
MJ
Henders
Anjali K
AK
Campbell
Megan J
MJ
Duffy
David L
DL
Hansell
Narelle K
NK
Macgregor
Stuart
S
Slutske
Wendy S
WS
Heath
Andrew C
AC
Montgomery
Grant W
GW
Martin
Nicholas G
NG
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
D005819:Genetic Markers; D007381:Intermediate Filament Proteins; D011498:Protein Precursors; C016159:trichohyalin; D008715:Methionine