Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
19896111
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.
DATE PUBLISHED
2009 Nov
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2009/08/17
revised 2009/10/12
accepted 2009/10/13
entrez 2009/11/10 06:00
pubmed 2009/11/10 06:00
medline 2009/12/23 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Medland SE Medland Sarah E SE Queensland Institute of Medical Research, Brisbane 4029, Australia. sarahme@qimr.edu.au
Nyholt DR Nyholt Dale R DR
Painter JN Painter Jodie N JN
McEvoy BP McEvoy Brian P BP
McRae AF McRae Allan F AF
Zhu G Zhu Gu G
Gordon SD Gordon Scott D SD
Ferreira MA Ferreira Manuel A R MA
Wright MJ Wright Margaret J MJ
Henders AK Henders Anjali K AK
Campbell MJ Campbell Megan J MJ
Duffy DL Duffy David L DL
Hansell NK Hansell Narelle K NK
Macgregor S Macgregor Stuart S
Slutske WS Slutske Wendy S WS
Heath AC Heath Andrew C AC
Montgomery GW Montgomery Grant W GW
Martin NG Martin Nicholas G NG
INVESTIGATORS
JOURNAL
VOLUME: 85
ISSUE: 5
TITLE: American journal of human genetics
ISOABBREVIATION: Am J Hum Genet
YEAR: 2009
MONTH: Nov
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1537-6605
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Am J Hum Genet
COUNTRY: United States
ISSNLINKING: 0002-9297
NLMUNIQUEID: 0370475
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
Cites Twin Res Hum Genet. 2008 Jun;11(3):287-305 18498207
Cites Hum Mol Genet. 2008 Mar 15;17(6):835-43 18065779
Cites J Hum Genet. 2009 Aug;54(8):461-5 19590514
Cites Twin Res Hum Genet. 2009 Oct;12(5):514-8 19803779
Cites Nucleic Acids Res. 2002 Sep 1;30(17):3894-900 12202775
Cites Nucleic Acids Res. 2003 Jul 1;31(13):3812-4 12824425
Cites Antioxid Redox Signal. 2003 Oct;5(5):577-82 14580313
Cites Nature. 2003 Dec 18;426(6968):789-96 14685227
Cites J Cell Biol. 1993 May;121(4):855-65 7684041
Cites J Biol Chem. 1993 Jun 5;268(16):12164-76 7685034
Cites Am J Hum Genet. 1993 Jul;53(1):279-86 8317493
Cites Am J Hum Genet. 1995 Jun;56(6):1367-72 7762559
Cites Mamm Genome. 1997 Dec;8(12):938-40 9383290
Cites Am J Hum Genet. 1999 Aug;65(2):483-92 10417291
Cites Hum Genomics. 2004 May;1(4):274-86 15588487
Cites Bioinformatics. 2005 Jul 15;21(14):3176-8 15879453
Cites Izv Akad Nauk Ser Biol. 2006 Jan-Feb;(1):52-62 16521539
Cites PLoS Biol. 2006 Mar;4(3):e72 16494531
Cites Science. 2006 Jun 16;312(5780):1614-20 16778047
Cites Eur J Hum Genet. 2007 Jan;15(1):94-102 17063143
Cites Am J Hum Genet. 2007 Feb;80(2):241-52 17236130
Cites Am J Hum Genet. 2007 Oct;81(4):821-8 17847007
Cites Int J Dermatol. 2007 Oct;46 Suppl 1:2-6 17919196
Cites Int J Dermatol. 2007 Oct;46 Suppl 1:7-10 17919197
Cites Am J Hum Genet. 2008 Feb;82(2):424-31 18252222
Cites Science. 2008 Feb 22;319(5866):1100-4 18292342
Cites Genome Res. 2009 May;19(5):826-37 19307593
GRANTS
GRANTID AGENCY COUNTRY
R01 AA007535 NIAAA NIH HHS United States
R01 AA014041 NIAAA NIH HHS United States
R01 MH066206 NIMH NIH HHS United States
AA13320 NIAAA NIH HHS United States
AA13321 NIAAA NIH HHS United States
AA10248 NIAAA NIH HHS United States
R01 AA013326 NIAAA NIH HHS United States
MH66206 NIMH NIH HHS United States
R01 AA013321 NIAAA NIH HHS United States
AA14041 NIAAA NIH HHS United States
AA13326 NIAAA NIH HHS United States
R01 AA013320 NIAAA NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Alleles
Amino Acid Sequence
Amino Acid Substitution
Australia ethnology
Child ethnology
Chromosomes, Human, Pair 1 ethnology
Cohort Studies ethnology
European Continental Ancestry Group genetics
Female genetics
Gene Frequency genetics
Genetic Markers genetics
Genetic Variation genetics
Genetics, Population genetics
Genome, Human genetics
Genome-Wide Association Study genetics
Genotype genetics
Geography genetics
Hair anatomy & histology
Hair Follicle anatomy & histology
Haplotypes anatomy & histology
Humans anatomy & histology
Intermediate Filament Proteins anatomy & histology
Karyotyping anatomy & histology
Linkage Disequilibrium anatomy & histology
Male anatomy & histology
Meta-Analysis as Topic anatomy & histology
Methionine metabolism
Molecular Sequence Data metabolism
Nuclear Family metabolism
Polymorphism, Single Nucleotide metabolism
Protein Precursors genetics
Young Adult genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Genetic Markers
0 Intermediate Filament Proteins
0 Protein Precursors
0 trichohyalin
AE28F7PNPL Methionine
OTHER ID's