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Abstract

We carried out a genome-wide association study in 296 individuals with male-pattern baldness (androgenetic alopecia) and 347 controls. We then investigated the 30 best SNPs in an independent replication sample and found highly significant association for five SNPs on chromosome 20p11 (rs2180439 combined P = 2.7 × 10−15). No interaction was detected with the X-chromosomal androgen receptor locus, suggesting that the 20p11 locus has a role in a yet-to-be-identified androgen-independent pathway.

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Acknowledgements

We thank all probands for participating in the study and providing blood samples. This study was supported by the Deutsche Forschungsgemeinschaft (FOR 423 and Emmy Noether) and the Alfried Krupp von Bohlen und Halbach-Stiftung. The Heinz Nixdorf Recall cohort was established with the support of the Heinz Nixdorf Foundation (G. Schmidt, Chairman).

Author information

Author notes

    • Axel M Hillmer
    •  & Felix F Brockschmidt

    These authors contributed equally to this work.

Affiliations

  1. Department of Genomics, Life & Brain Center, University of Bonn, D-53127 Bonn, Germany.

    • Axel M Hillmer
    • , Felix F Brockschmidt
    • , Stefan Herms
    • , Thomas W Mühleisen
    • , Margrieta A Alblas
    • , Roman Reinartz
    • , Sven Cichon
    •  & Markus M Nöthen
  2. Department of Dermatology, University of Düsseldorf, D-40225 Düsseldorf, Germany.

    • Sandra Hanneken
    • , Sibylle Eigelshoven
    • , Anne-Katrin Kortüm
    •  & Roland Kruse
  3. Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, D-53105 Bonn, Germany.

    • Michael Steffens
    • , Antonia Flaquer
    • , Tim Becker
    • , Max P Baur
    •  & Thomas F Wienker
  4. Genetic Epidemiology, Queensland Institute of Medical Research, QLD 4006 Brisbane, Australia.

    • Dale R Nyholt
    • , Zhen Zhen Zhao
    • , Grant W Montgomery
    •  & Nicholas G Martin
  5. Institute for Medical Informatics, Biometry and Epidemiology, University Duisburg-Essen, D-45122 Essen, Germany.

    • Susanne Moebus
    •  & Karl-Heinz Jöckel
  6. Clinic of Endocrinology, Central Laboratory Unit Research and Education, University Hospital of Essen, University Duisburg-Essen, D-45122 Essen, Germany.

    • Martina Bröcker-Preuss
  7. Clinic of Cardiology, West-German Heart Center Essen, University Duisburg-Essen, D-45122 Essen, Germany.

    • Raimund Erbel
  8. Institute of Human Genetics, University of Bonn, D-53111 Bonn, Germany.

    • Regina C Betz
    • , Sven Cichon
    • , Peter Propping
    •  & Markus M Nöthen

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Contributions

M.M.N. and R.K. initiated the study; A.M.H. and F.F.B. contributed to the study design; M.M.N. and A.M.H. coordinated the work and prepared the manuscript, with feedback from the other authors; R.K., S. Hanneken, S.E., and A.-K.K. diagnosed the affected and unaffected German individuals and collected the blood samples; S.M., K.-H.J., M.B.-P. and R.E. recruited and characterized German population controls; N.G.M. and D.R.N. recruited and characterized Australian sample; F.F.B., T.W.M., M.A.A., Z.Z.Z., G.W.M. and R.R. prepared DNA and performed genotyping; M.S., A.F., S. Herms, T.B., and D.R.N. performed statistical analysis; F.F.B. performed expression analysis. M.M.N., A.M.H., F.F.B., T.B., N.G.M, D.R.N., T.F.W., M.P.B., S.C., P.P., and R.C.B. analyzed and interpreted data.

Competing interests

M.M.N., R.K., A.M.H. and F.F.B. declare competing financial interests because of their patent application (European patent 08 00 6933.9).

Corresponding author

Correspondence to Axel M Hillmer.

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    Supplementary Tables 1–4, Supplementary Figures 1–4 and Supplementary Methods

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DOI

https://doi.org/10.1038/ng.228

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