Susceptibility variants for male-pattern baldness on chromosome 20p11

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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Figure 1: Genome-wide scan for association with AGA and details of the region 21,571,171– 22,321,597 on chromosome 20p11.

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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).

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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.

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Correspondence to Axel M Hillmer.

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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).

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Supplementary Tables 1–4, Supplementary Figures 1–4 and Supplementary Methods (PDF 412 kb)

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Hillmer, A., Brockschmidt, F., Hanneken, S. et al. Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet 40, 1279–1281 (2008). https://doi.org/10.1038/ng.228

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