Evidence map›Paper›PMID 26926045›Full record

ArticleNature communications2016

A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.

Kaustubh Adhikari, Tania Fontanil, Santiago Cal, Javier Mendoza-Revilla, Macarena Fuentes-Guajardo, Juan-Camilo Chacón-Duque, Farah Al-Saadi, Jeanette A Johansson, Mirsha Quinto-Sanchez, Victor Acuña-Alonzo and 26 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
78citing papers in PubMed, 3 pooled it
13.2field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

78 citing papers in PubMed, 3 syntheses or guidelines pooled it, 199 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Article
  6. Article
  7. A Comprehensive Review of GWASs of Human Hair Traits.The Journal of investigative dermatology · 2025
    Review
  8. Review
  9. Androgenetic alopecia.Nature reviews. Disease primers · 2025
    Review
  10. Review
  11. Article
  12. Article
  13. Premature hair graying: a multifaceted phenomenon.International journal of dermatology · 2025
    Review
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

18 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

36 authors at 13 institutions in 9 countries.

Kaustubh AdhikariDepartment of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Tania FontanilDepartamento de Bioquímica y Biología Molecular, IUOPA, Universidad de Oviedo, Oviedo 33006, Spain.
Santiago CalDepartamento de Bioquímica y Biología Molecular, IUOPA, Universidad de Oviedo, Oviedo 33006, Spain.
Javier Mendoza-RevillaDepartment of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Macarena Fuentes-GuajardoDepartment of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Juan-Camilo Chacón-DuqueDepartment of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Farah Al-SaadiDepartment of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Jeanette A JohanssonRoslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK.ORCID http://orcid.org/0000-0002-2581-9368
Mirsha Quinto-SanchezCentro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
Victor Acuña-AlonzoDepartment of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Claudia JaramilloGENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
William AriasGENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
Rodrigo Barquera LozanoNational Institute of Anthropology and History, México 4510, México.
Gastón Macín PérezNational Institute of Anthropology and History, México 4510, México.
Jorge Gómez-ValdésFacultad de Medicina, UNAM, México 4510, México.
Hugo Villamil-RamírezUnidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, México 4510, México.
Tábita HunemeierDepartamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
Virginia RamalloCentro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
Caio C Silva de CerqueiraCentro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
Malena HurtadoLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
Valeria VillegasLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
Vanessa GranjaLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
Carla GalloLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
Giovanni PolettiLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú
Lavinia Schuler-FacciniDepartamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
Francisco M SalzanoDepartamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
Maria-Cátira BortoliniDepartamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brasil.
Samuel Canizales-QuinterosUnidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, México 4510, México.
Francisco RothhammerInstituto de Alta Investigación, Universidad de Tarapacá, Arica 1000000, Chile.
Gabriel BedoyaGENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
Rolando Gonzalez-JoséCentro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
Denis HeadonRoslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK.
Carlos López-OtínDepartamento de Bioquímica y Biología Molecular, IUOPA, Universidad de Oviedo, Oviedo 33006, Spain.
Desmond J TobinCentre for Skin Sciences, Faculty of Life Sciences, University of Bradford, Bradford BD7 1DP, Victoria, UK.
David BaldingDepartment of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.ORCID http://orcid.org/0000-0002-1480-6115
Andrés Ruiz-LinaresDepartment of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Universidade Federal do Rio Grande do Sul · BRUniversidad Peruana Cayetano Heredia · PEUniversity College London · GBTecnológico Nacional de México · MXUniversidad de Antioquia · COUniversidad de Oviedo · ESCentro Científico Tecnológico Patagónico · ARNational Institute of Genomic Medicine · MXRoslin Institute · GBUniversity of Tarapacá · CLThe University of Melbourne · AUUniversidad Nacional Autónoma de México · MXUniversity of Bradford · GB

Funding

Biotechnology and Biological Sciences Research Council BB/I021213/1
6 · The paper itself

Abstract

We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.

Indexed as

Genome-Wide Association StudyRacial GroupsFaceFemaleGene Expression RegulationGenetic VariationHairHumansMaleScalp

Identifiers

PMID26926045
PMCPMC4773514
OpenAlexW2289209130

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.