ArticleHuman genetics2009
Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Androgenetic alopecia: a review.Endocrine · 2017Pooled it
- Technological Advances in Anti-hair Loss and Hair Regrowth Cosmeceuticals: Mechanistic Breakthroughs and Industrial Prospects Driven by Multidisciplinary Collaborative Innovation.Aesthetic plastic surgery · 2025Review
- Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss.Nature communications · 2023Article
- Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.BMC genomics · 2020Article
- Antagonistic Pleiotropy in Human Disease.Journal of molecular evolution · 2020Review
- Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia.PloS one · 2019Article
- Dissection of genetic variation and evidence for pleiotropy in male pattern baldness.Nature communications · 2018Article
- Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele.Cancer causes & control : CCC · 2017Article
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.Journal of human genetics · 2016Article
- Article
- Evaluation of DNA variants associated with androgenetic alopecia and their potential to predict male pattern baldness.PloS one · 2015Article
- Characteristics of androgenetic alopecia in asian.Annals of dermatology · 2012Article
- Evolutionary forces shaping genomic islands of population differentiation in humans.BMC genomics · 2012Article
- GWAS: heritability missing in action?European journal of human genetics : EJHG · 2010Article
- Characterization of X-linked SNP genotypic variation in globally distributed human populations.Genome biology · 2010Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic variants in the human androgen receptor gene (AR) are associated with male pattern baldness (androgenetic alopecia, AGA) in Europeans. Previous observations of long-range linkage disequilibrium at the AR locus are consistent with the hypothesis of recent positive selection. Here, we further investigate this signature and its relationship to the AGA risk haplotype. The haplotype homozygosity suggests that the AGA risk haplotype was driven to high frequency by positive selection in Europeans although a low meiotic recombination rate contributed to the high haplotype homozygosity. Further, we find high levels of population differentiation as measured by F(ST) and a series of fixed derived alleles along an extended region centromeric to AR in the Asian HapMap sample. The predominant AGA risk haplotype also carries the putatively functional variant 57K in the flanking ectodysplasin A2 receptor gene (EDA2R). It is therefore probable that the AGA risk haplotype rose to high frequency in combination with this EDA2R variant, possibly by hitchhiking on a positively selected 57K haplotype.
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