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Record W2592327493 · doi:10.1038/ncomms14694

Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness

2017· review· en· W2592327493 on OpenAlexaff
Stefanie Heilmann‐Heimbach, Christine Herold, Lara M. Hochfeld, Axel M. Hillmer, Dale R. Nyholt, Julian Hecker, Asif Javed, Elaine Guo Yan Chew, Sonali Pechlivanis, Dmitriy Drichel, Xiu Ting Heng, Ricardo C.H. del Rosario, Heide Fier, Ralf Paus, Rico Rueedi, Tessel E. Galesloot, Susanne Moebus, Thomas Anhalt, Shyam Prabhakar, Rui Li, Stavroula Kanoni, George Papanikolaou, Zoltán Kutalik, Panos Deloukas, Michael P. Philpott, Gérard Waeber, Tim D. Spector, Péter Vollenweider, Lambertus A. Kiemeney, George Dedoussis, J. Brent Richards, Michael Nothnagel, Nicholas G. Martin, Tim Becker, David A. Hinds, Markus M. Nöthen

Bibliographic record

VenueNature Communications · 2017
Typereview
Languageen
FieldMedicine
TopicHair Growth and Disorders
Canadian institutionsMcGill UniversityJewish General Hospital
FundersRheinische Friedrich-Wilhelms-Universität BonnDeutsche ForschungsgemeinschaftAgency for Science, Technology and ResearchBritish Heart Foundation
KeywordsMale-pattern baldnessBiologyGenome-wide association studyPhenotypeGeneticsCandidate geneMeta-analysisBioinformaticsProstate cancerTraitSingle-nucleotide polymorphismComputational biologyGeneMedicineGenotypeInternal medicineCancerScalp

Abstract

fetched live from OpenAlex

Abstract Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci ( P <5 × 10 −8 , METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes ( FGF5 , IRF4 , DKK2 ) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the development of novel therapeutic options. The data provide molecular evidence that rather than being an isolated trait, MPB shares a substantial biological basis with numerous other human phenotypes and may deserve evaluation as an early prognostic marker, for example, for prostate cancer, sudden cardiac arrest and neurodegenerative disorders.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.004
metaresearch head score (Gemma)0.007
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.004
Threshold uncertainty score0.022

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0040.007
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0040.007
Bibliometrics0.0030.005
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.175
GPT teacher head0.416
Teacher spread0.240 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designMeta-analysis
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations101
Published2017
Admission routes1
Has abstractyes

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Same venueNature CommunicationsSame topicHair Growth and DisordersFrench-language works237,207