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
23358095
TITLE
Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology.
ABSTRACT
The pathogenesis of androgenetic alopecia (AGA, male-pattern baldness) is driven by androgens, and genetic predisposition is the major prerequisite. Candidate gene and genome-wide association studies have reported that single-nucleotide polymorphisms (SNPs) at eight different genomic loci are associated with AGA development. However, a significant fraction of the overall heritable risk still awaits identification. Furthermore, the understanding of the pathophysiology of AGA is incomplete, and each newly associated locus may provide novel insights into contributing biological pathways. The aim of this study was to identify unknown AGA risk loci by replicating SNPs at the 12 genomic loci that showed suggestive association (5 × 10(-8)<P<10(-5)) with AGA in a recent meta-analysis. We analyzed a replication set comprising 2,759 cases and 2,661 controls of European descent to confirm the association with AGA at these loci. Combined analysis of the replication and the meta-analysis data identified four genome-wide significant risk loci for AGA on chromosomes 2q35, 3q25.1, 5q33.3, and 12p12.1. The strongest association signal was obtained for rs7349332 (P=3.55 × 10(-15)) on chr2q35, which is located intronically in WNT10A. Expression studies in human hair follicle tissue suggest that WNT10A has a functional role in AGA etiology. Thus, our study provides genetic evidence supporting an involvement of WNT signaling in AGA development.
DATE PUBLISHED
2013 Jun
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2013/01/28
aheadofprint 2013/03/14
entrez 2013/01/30 06:00
pubmed 2013/01/30 06:00
medline 2013/07/19 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Heilmann S Heilmann Stefanie S Institute of Human Genetics, University of Bonn, Bonn, Germany.
Kiefer AK Kiefer Amy K AK
Fricker N Fricker Nadine N
Drichel D Drichel Dmitriy D
Hillmer AM Hillmer Axel M AM
Herold C Herold Christine C
Tung JY Tung Joyce Y JY
Eriksson N Eriksson Nicholas N
Redler S Redler Silke S
Betz RC Betz Regina C RC
Li R Li Rui R
Kárason A Kárason Ari A
Nyholt DR Nyholt Dale R DR
Song K Song Kijoung K
Vermeulen SH Vermeulen Sita H SH
Kanoni S Kanoni Stavroula S
Dedoussis G Dedoussis George G
Martin NG Martin Nicholas G NG
Kiemeney LA Kiemeney Lambertus A LA
Mooser V Mooser Vincent V
Stefansson K Stefansson Kari K
Richards JB Richards J Brent JB
Becker T Becker Tim T
Brockschmidt FF Brockschmidt Felix F FF
Hinds DA Hinds David A DA
Nöthen MM Nöthen Markus M MM
INVESTIGATORS
JOURNAL
VOLUME: 133
ISSUE: 6
TITLE: The Journal of investigative dermatology
ISOABBREVIATION: J. Invest. Dermatol.
YEAR: 2013
MONTH: Jun
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1523-1747
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: J Invest Dermatol
COUNTRY: United States
ISSNLINKING: 0022-202X
NLMUNIQUEID: 0426720
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
R01 AA007535 NIAAA NIH HHS United States
R01 AA013321 NIAAA NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Alopecia metabolism
Cholestanetriol 26-Monooxygenase genetics
Chromosomes, Human, Pair 12 genetics
Chromosomes, Human, Pair 2 genetics
Chromosomes, Human, Pair 3 genetics
Chromosomes, Human, Pair 5 genetics
European Continental Ancestry Group statistics & numerical data
Frizzled Receptors genetics
Genetic Predisposition to Disease genetics
Genome-Wide Association Study genetics
Humans genetics
Male genetics
Middle Aged genetics
Polymorphism, Single Nucleotide genetics
Risk Factors genetics
Wnt Proteins genetics
Wnt Signaling Pathway physiology
Wnt3 Protein genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 FZD10 protein, human
0 Frizzled Receptors
0 WNT10A protein, human
0 WNT3 protein, human
0 WNT6 protein, human
0 Wnt Proteins
0 Wnt3 Protein
EC 1.14.13.15 CYP27A1 protein, human
EC 1.14.13.15 Cholestanetriol 26-Monooxygenase
OTHER ID's