Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans

American Journal of Human Genetics

Volumn 85, Issue 5, 2009, Pages 750-755

  Medland, Sarah E ^a   Nyholt, Dale R ^a   Painter, Jodie N ^a   McEvoy, Brian P ^a   McRae, Allan F ^a   Zhu, Gu ^a   Gordon, Scott D ^a   Ferreira, Manuel A R ^a   Wright, Margaret J ^a   Henders, Anjali K ^a   Campbell, Megan J ^a   Duffy, David L ^a   Hansell, Narelle K ^a   Macgregor, Stuart ^a   Slutske, Wendy S ^b   Heath, Andrew C ^c   Montgomery, Grant W ^a   Martin, Nicholas G ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MISSOURI   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; ASIAN; AUSTRALIA; EUROPEAN AMERICAN; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAIR; HAIR CELL; HAIR FOLLICLE; HUMAN; MAJOR CLINICAL STUDY; MALE; POPULATION GENETICS; PRIORITY JOURNAL; STRAIGHT HAIR; TRICHOHYALIN GENE;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AUSTRALIA; CHILD; CHROMOSOMES, HUMAN, PAIR 1; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC MARKERS; GENETIC VARIATION; GENETICS, POPULATION; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GEOGRAPHY; HAIR; HAIR FOLLICLE; HAPLOTYPES; HUMANS; KARYOTYPING; LINKAGE DISEQUILIBRIUM; MALE; META-ANALYSIS AS TOPIC; METHIONINE; MOLECULAR SEQUENCE DATA; NUCLEAR FAMILY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN PRECURSORS; YOUNG ADULT;

EID: 71849088051     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.10.009     Document Type: Article

References (29)

1. Loussouarn G., Garcel A.L., Lozano I., Collaudin C., Porter C., Panhard S., Saint-Leger D., and de La Mettrie R. Worldwide diversity of hair curliness: a new method of assessment. Int. J. Dermatol. 46 Suppl 1 (2007) 2-6
2. Thibaut S., Barbarat P., Leroy F., and Bernard B.A. Human hair keratin network and curvature. Int. J. Dermatol. 46 Suppl 1 (2007) 7-10
3. Fujimoto A., Nishida N., Kimura R., Miyagawa T., Yuliwulandari R., Batubara L., Mustofa M.S., Samakkarn U., Settheetham-Ishida W., Ishida T., et al. FGFR2 is associated with hair thickness in Asian populations. J. Hum. Genet. 54 (2009) 461-465
4. Fujimoto A., Kimura R., Ohashi J., Omi K., Yuliwulandari R., Batubara L., Mustofa M.S., Samakkarn U., Settheetham-Ishida W., Ishida T., et al. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum. Mol. Genet. 17 (2008) 835-843
5. Medland S.E., Zhu G., and Martin N. Estimating the heritability of hair curliness in twins of European ancestry. TRHG 12 (2009) 514-518
6. Hansell N.K., Agrawal A., Whitfield J.B., Morley K.I., Zhu G., Lind P.A., Pergadia M.L., Madden P.A., Todd R.D., Heath A.C., et al. Long-term stability and heritability of telephone interview measures of alcohol consumption and dependence. Twin Res. Hum. Genet. 11 (2008) 287-305
7. Zhu G., Duffy D.L., Eldridge A., Grace M., Mayne C., O'Gorman L., Aitken J.F., Neale M.C., Hayward N.K., Green A.C., et al. A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. Am. J. Hum. Genet. 65 (1999) 483-492
8. Zhu G., Montgomery G.W., James M.R., Trent J.M., Hayward N.K., Martin N.G., and Duffy D.L. A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions. Eur. J. Hum. Genet. 15 (2007) 94-102
9. Li Y., and Abecasis G. Mach 1.0: Rapid haplotype reconstruction and missing genotype inference. Am. J. Hum. Genet. S79 (2006) 2290
10. Neale M.C., and Cardon L.R. Methodology for Genetic Studies of Twins and Families (1992), Kluwer Academic Publishers, Dordrecht, the Netherlands
11. International Hap Map Consortium. The International HapMap Project. Nature 426 (2003) 789-796
12. Adaimy L., Chouery E., Megarbane H., Mroueh S., Delague V., Nicolas E., Belguith H., de Mazancourt P., and Megarbane A. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am. J. Hum. Genet. 81 (2007) 821-828
13. Chernova O. Evolutionary aspects of hair polymorphism. Biol. Bull. 33 (2006) 43-52
14. Shriver M.D., Kennedy G.C., Parra E.J., Lawson H.A., Sonpar V., Huang J., Akey J.M., and Jones K.W. The genomic distribution of population substructure in four populations using 8,525 autosomal SNPs. Hum. Genomics 1 (2004) 274-286
15. Pickrell J.K., Coop G., Novembre J., Kudaravalli S., Li J.Z., Absher D., Srinivasan B.S., Barsh G.S., Myers R.M., Feldman M.W., et al. Signals of recent positive selection in a worldwide sample of human populations. Genome Res. 19 (2009) 826-837
16. Sabeti P.C., Schaffner S.F., Fry B., Lohmueller J., Varilly P., Shamovsky O., Palma A., Mikkelsen T.S., Altshuler D., and Lander E.S. Positive natural selection in the human lineage. Science 312 (2006) 1614-1620
17. Voight B.F., Kudaravalli S., Wen X., and Pritchard J.K. A map of recent positive selection in the human genome. PLoS Biol. 4 (2006) e72
18. Duffy D.L., Montgomery G.W., Chen W., Zhao Z.Z., Le L., James M.R., Hayward N.K., Martin N.G., and Sturm R.A. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am. J. Hum. Genet. 80 (2007) 241-252
19. Sturm R.A., Duffy D.L., Zhao Z.Z., Leite F.P., Stark M.S., Hayward N.K., Martin N.G., and Montgomery G.W. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am. J. Hum. Genet. 82 (2008) 424-431
20. Ramensky V., Bork P., and Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30 (2002) 3894-3900
21. Ferrer-Costa C., Gelpí J., Zamakola L., Parraga I., de la Crux X., and Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21 (2005) 3176-3178
22. Ng P.C., and Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31 (2003) 3812-3814
23. Lee S.C., Kim I., Marekov L., O'Keefe E., Parry D., and Steiner P. The structure of human trichohyalin. J. Biol. Chem. 268 (1993) 12164-12174
24. Stadtman E.R., Moskovitz J., and Levine R. Oxidation of methionine residues of proteins: biological consequences. Antioxid. Redox Signal. 5 (2003) 577-582
25. Fietz M.J., McLaughlan C.J., Campbell M.T., and Rogers G.E. Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin in the hair follicle. J. Cell Biol. 121 (1993) 855-865
26. McLaren R.J., Rogers G.R., Davies K.P., Maddox J.F., and Montgomery G.W. Linkage mapping of wool keratin and keratin-associated protein genes in sheep. Mamm. Genome 8 (1997) 938-940
27. Djian P., Delhomme B., and Green H. Origin of the polymorphism of the involucrin gene in Asians. Am. J. Hum. Genet. 56 (1995) 1367-1372
28. Urquhart A., and Gill P. Tandem-repeat internal mapping (TRIM) of the involucrin gene: repeat number and repeat-pattern polymorphism within a coding region in human populations. Am. J. Hum. Genet. 53 (1993) 279-286
29. Li J.Z., Absher D.M., Tang H., Southwick A.M., Casto A.M., Ramachandran S., Cann H.M., Barsh G.S., Feldman M., Cavalli-Sforza L.L., et al. Worldwide human relationships inferred from genome-wide patterns of variation. Science 319 (2008) 1100-1104