The adaptive variant EDARV370A is associated with straight hair in East Asians

Human Genetics

Volumn 132, Issue 10, 2013, Pages 1187-1191

  Tan, Jingze ^a,b   Yang, Yajun ^a,b   Tang, Kun ^c   Sabeti, Pardis C ^d,e,f   Jin, Li ^a,b,c   Wang, Sijia ^c,d,e  

^a FUDAN UNIVERSITY   (China)

^b CMC Institute of Health Sciences   (China)

^c Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e HARVARD UNIVERSITY   (United States)

^f HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EDAR RECEPTOR; EDAR RECEPTOR 370A; UNCLASSIFIED DRUG;

ARTICLE; ASIAN; CAUCASIAN; CHINESE; CONTROLLED STUDY; GENETIC VARIABILITY; HAIR; HUMAN; HUMAN EXPERIMENT; NATURAL SELECTION; PHENOTYPE; POPULATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; EDAR RECEPTOR; EYE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETICS, POPULATION; GENOME, HUMAN; HAIR; HUMANS; LOGISTIC MODELS; MALE; MIDDLE AGED; MONGOLIA; ODDS RATIO; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SPECIES SPECIFICITY; TIBET; YOUNG ADULT;

EID: 84884900721     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1324-1     Document Type: Article

References (16)

1. Bean RB (1911) Heredity of hair form among the Filipinos. Am Nat 45:524
2. Bryk J, Hardouin E, Pugach I, Hughes D, Strotmann R, Stoneking M et al (2008) Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation. PLoS One 3:e2209
3. Chang SH, Jobling S, Brennan K, Headon DJ (2009) Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands. PLoS One 4:e7591
4. Fujimoto A, Kimura R, Ohashi J, Omi K, Yuliwulandari R, Batubara L et al (2008a) A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum Mol Genet 17:835-843
5. Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T et al (2008b) A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia. Hum Genet 124:179-185
6. Grossman SR, Shlyakhter I, Karlsson EK, Byrne EH, Morales S, Frieden G et al (2010) A composite of multiple signals distinguishes causal variants in regions of positive selection. Science 327:883-886. doi: 10.1126/science.1183863
7. Hitsch GJ, Hortacsu A, Ariely D (2010) What makes you click? Mate preferences and matching outcomes in online dating. Quant Mark Econ 8:393-427
8. Kamberov YG, Wang S, Tan J, Gerbault P, Wark A, Tan L et al (2013) Modeling recent human evolution in mice by expression of a selected EDAR variant. Cell 152:691-702
9. Kimura R, Yamaguchi T, Takeda M, Kondo O, Toma T, Haneji K et al (2009) A common variation in EDAR is a genetic determinant of shovel-shaped incisors. Am J Hum Genet 85:528-535
10. Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G et al (2009a) Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet 85:750-755
11. Medland SE, Zhu G, Martin NG (2009b) Estimating the heritability of hair curliness in twins of European ancestry. Twin Res Hum Genet 12:514-518. doi: 10.1375/twin.12.5.514
12. Mou C, Thomason HA, Willan PM, Clowes C, Harris WE, Drew CF et al (2008) Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. Hum Mutat 29:1405-1411
13. Park JH, Yamaguchi T, Watanabe C, Kawaguchi A, Haneji K, Takeda M et al (2012) Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits. J Hum Genet 57:508-514. doi: 10.1038/jhg.2012.60
14. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575
15. Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C et al (2007) Genome-wide detection and characterization of positive selection in human populations. Nature 449:913-918. doi: 10.1038/nature06250
16. Xue Y, Zhang X, Huang N, Daly A, Gillson CJ, Macarthur DG et al (2009) Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation. Genetics 183:1065-1077. doi: 10.1534/genetics.109.107722