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Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss

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Abstract

Female pattern hair loss (FPHL) is a common hair loss disorder in women with a complex mode of inheritance. Its etiopathogenesis is poorly understood. Widespread assumptions of overlapping susceptibility variants between FPHL and male pattern baldness (androgenetic alopecia) and a crucial role of androgens or distinct sexual steroid hormones in the development of FPHL could neither be clearly demonstrated nor completely excluded at the molecular level up to date. Interestingly, recent studies suggested an association of metabolic syndrome—including obesity, hyperlipidaemia, hypertension and diabetes mellitus type 2 or abnormally high fasting blood glucose—with FPHL. Of note, mutations in the melanocortin 4 receptor gene (MC4R) have been identified in patients with morbid obesity. Interestingly, this neuropeptide receptor has been detected amongst others in the dermal papilla of the hair follicle. As almost half of our FPHL patients of German origin present with adipositas and/or obesity, we hypothesized as to whether FPHL could be associated with variants of the MC4R gene. Thus, we genotyped a total of six variants from MC4R in our case–control sample comprising 245 UK patients of German and UK origin. However, based on our present study none of the genotyped MC4R variants displayed any significant association, neither in the overall UK and German samples nor in any subgroup analyses. In summary, these results do not point to an involvement of MC4R in FPHL.

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Acknowledgments

The authors thank all patients for their participation in the study. The authors thank the British Skin Foundation (AGM and RTA, 2005) for supporting the FPHL DNA collection. H.M. is supported by a grant of the Syrian Ministry of Higher Education and a DAAD fellowship. S.R. was a recipient of a BONFOR Gerok fellowship from the Medical Faculty of the University of Bonn. M.M.N. is recipient of a grant from the Alfried Krupp von Bohlen und Halbach-Stiftung. R.C.B. is recipient of a Heisenberg Professorship from the German Research Foundation (DFG).

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The authors have no conflict of interest to declare.

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Correspondence to Regina C. Betz.

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H. Mahmoudi, S. Redler, M. Böhm and R. C. Betz have contributed equally to this work.

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Mahmoudi, H., Redler, S., Birch, P. et al. Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss. Arch Dermatol Res 305, 249–253 (2013). https://doi.org/10.1007/s00403-012-1296-3

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  • DOI: https://doi.org/10.1007/s00403-012-1296-3

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