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@ARTICLE{Heilmann:136914,
author = {Heilmann, Stefanie and Kiefer, Amy K and Fricker, Nadine
and Drichel, Dmitriy and Hillmer, Axel M and Herold,
Christine and Tung, Joyce Y and Eriksson, Nicholas and
Redler, Silke and Betz, Regina C and Li, Rui and Kárason,
Ari and Nyholt, Dale R and Song, Kijoung and Vermeulen, Sita
H and Kanoni, Stavroula and Dedoussis, George and Martin,
Nicholas G and Kiemeney, Lambertus A and Mooser, Vincent and
Stefansson, Kari and Richards, J Brent and Becker, Tim and
Brockschmidt, Felix F and Hinds, David A and Nöthen, Markus
M},
title = {{A}ndrogenetic alopecia: identification of four genetic
risk loci and evidence for the contribution of {WNT}
signaling to its etiology.},
journal = {The journal of investigative dermatology},
volume = {133},
number = {6},
issn = {0022-202X},
address = {Amsterdam},
publisher = {Elsevier},
reportid = {DZNE-2020-03236},
pages = {1489-1496},
year = {2013},
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.},
keywords = {Adult / Alopecia: epidemiology / Alopecia: etiology /
Alopecia: genetics / Alopecia: metabolism / Cholestanetriol
26-Monooxygenase: genetics / Chromosomes, Human, Pair 12 /
Chromosomes, Human, Pair 2 / Chromosomes, Human, Pair 3 /
Chromosomes, Human, Pair 5 / European Continental Ancestry
Group: genetics / European Continental Ancestry Group:
statistics $\&$ numerical data / Frizzled Receptors:
genetics / Genetic Predisposition to Disease: epidemiology /
Genetic Predisposition to Disease: genetics / Genome-Wide
Association Study / Humans / Male / Middle Aged /
Polymorphism, Single Nucleotide: genetics / Risk Factors /
Wnt Proteins: genetics / Wnt Signaling Pathway: physiology /
Wnt3 Protein: genetics / FZD10 protein, human (NLM
Chemicals) / Frizzled Receptors (NLM Chemicals) / WNT10A
protein, human (NLM Chemicals) / WNT3 protein, human (NLM
Chemicals) / WNT6 protein, human (NLM Chemicals) / Wnt
Proteins (NLM Chemicals) / Wnt3 Protein (NLM Chemicals) /
CYP27A1 protein, human (NLM Chemicals) / Cholestanetriol
26-Monooxygenase (NLM Chemicals)},
cin = {AG Roes / GenomMathematik},
ddc = {610},
cid = {I:(DE-2719)1610003 / I:(DE-2719)1013007},
pnm = {345 - Population Studies and Genetics (POF3-345)},
pid = {G:(DE-HGF)POF3-345},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:23358095},
doi = {10.1038/jid.2013.43},
url = {https://pub.dzne.de/record/136914},
}