A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia

  title={A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia},
  author={Akihiro Fujimoto and Jun Ohashi and Nao Nishida and Taku Miyagawa and Yasuyuki Morishita and Tatsuhiko Tsunoda and Ryosuke Kimura and Katsushi Tokunaga},
  journal={Human Genetics},
Hair morphology is a highly divergent phenotype among human populations. [] Key Method In this study, we examined the association of 1540T/C with hair morphology in a Japanese population (Northeast Asian). As observed in our previous study, 1540T/C showed a significant association with hair cross-sectional area (P = 2.7 × 10−6) in Japanese. When all populations (Thai-Mai, Indonesian, and Japanese) were combined, the association of 1540T/C was stronger (P = 3.8 × 10−10) than those of age, sex, and population…
FGFR2 is associated with hair thickness in Asian populations
The results suggest that the FGFR2 polymorphism affects the variation in hair thickness in Asia through alteration in the expression level ofFGFR2.
Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits
A meta-analysis that combined analyses of Korean and Japanese subjects revealed that the Asian-specific 370A allele is associated with an increase in the grades of shoveling and double shoveling, and showed a highly significant association between EDAR 370V/A genotype and crown size, especially mesiodistal diameters of anterior teeth.
The adaptive variant EDARV370A is associated with straight hair in East Asians
The results indicate very different biological mechanisms of straight hair in Europe and Asia, and present a more comprehensive picture of the phenotypic consequences of 370A, providing important clues into the potential adaptive forces shaping the evolution of this extraordinary genetic variant.
Common polymorphisms in WNT10A affect tooth morphology as well as hair shape.
It is demonstrated that common variations in WNT10A have pleiotropic effects on the morphology of ectodermal appendages as well as dental characteristics.
EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects
Partial least square path model confirms EDARV370A systematically affect these weakly related ectodermal-derived characteristics, suggesting the pleiotropic effect of EDARv370A mainly plays roles in early embryo development.
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.
Single-nucleotide polymorphism analyses on ABCC11, EDAR, FGFR2, and ABO genotypes of mummified people of the Joseon Dynasty, South Korea
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A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.
It is concluded that EDAR is a major genetic determinant of Asian hair thickness and the 1540C allele spread through Asian populations due to recent positive selection.
Enhanced ectodysplasin‐A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
It is demonstrated that elevation of Edar activity in transgenic mice converts their hair phenotype to the typical East Asian morphology, and shows that the multiple differences in hair form between East Asian and other human populations can be explained by the simplest of genetic alterations.
A genomewide association study of skin pigmentation in a South Asian population.
This study is the first to interrogate polymorphisms across the genome, to find genetic determinants of the natural variation of skin pigmentation within a human population.
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
The minor population impact of the nonsynonymous coding-region polymorphisms Arg305Trp and Arg419Gln associated with nonblue eyes and the tight linkage of the major TGT haplotype within the intron 1 of OCA2 with blue eye color and lighter hair and skin tones suggest that differences within the 5' proximal regulatory control region of the OCA1 gene alter expression or messenger RNA-transcript levels and may be responsible for these associations.
Genetic determinants of hair, eye and skin pigmentation in Europeans
The most closely associated SNPs from six regions—four not previously implicated in the normal variation of human pigmentation—were tested and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch, and all met the criteria for genome-wide significance.
Positive Selection in East Asians for an EDAR Allele that Enhances NF-κB Activation
Evidence is presented that a derived nonsynonymous substitution (370A) in EDAR, a gene involved in ectodermal development, was driven to high frequency in East Asia by positive selection prior to 10,000 years ago.
SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans
It is shown that zebrafish golden mutants share these melanosomal changes and that golden encodes a putative cation exchanger slc24a5 (nckx5) that localizes to an intracellular membrane, likely the melanosome or its precursor.
Genomic regions exhibiting positive selection identified from dense genotype data.
Identification of the functional polymorphism (and/or haplotype) responsible for the selective sweeps within each CRTR may provide interesting insights into the strongest selective pressures experienced by the human genome over recent evolutionary history.
What is normal black African hair? A light and scanning electron-microscopic study.
Observations provide an understanding of the physical nature of, and effect of combing on, black African hair.
light and scanning electron-microscopic study
  • J Am Acad Dermatol
  • 2007