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Prof. Dr. Regina Betz

Member, Steering-Committee Member

Institute of Human Genetics

Medical Faculty, University of Bonn University Hospital of Bonn Sigmund-Freud-Strasse 25 53127 Bonn

+49 228 28751023


The aim of our research is the identification and functional characterization of genes for monogenic and genetically com-plex hair loss disorders with a major focus on the autoimmune disorder alopecia areata (AA). We have the largest sample of AA patients available worldwide, which includes a current total of more than 2.200 individuals of middle European origin. We have been able to demonstrate the contribution of the HLA-complex and the genes PTPN22, TRAF1/C5 , CTLA4, IL13 and KIAA0350 to the disease risk using candidate gene studies. By the use of genome-wide association studies, meta-analyses, immunochips and functional studies, we just recently identified HLA-DR as a key etiologic driver for AA as well as two loci outside the HLA-region: ACOXL/BCL2L11 and GARP. Future analyses and functional studies will contribute to a comprehensive understanding of AA.

Recent publications

  • Short anagen hair syndrome: Association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.

    The British journal of dermatology

    Authors: Nicole Cesarato, Agnes Schwieger-Briel, Yasmina Gossmann, Sabrina K Henne, Kathrin Hillmann, Leonie H Frommherz, Maria Wehner, Xing Xiong, Holger Thiele, Vinzenz Oji, Donatella Milani, Iliana Tantcheva-Poor, Kathrin Giehl, Regina Fölster-Holst, Anne Teichler, Delphine Braeckmans, Peter H Hoeger, Gabriela Jones, Jorge Frank, Lisa Weibel, Ulrike Blume-Peytavi, Henning Hamm, Markus M Nöthen, Matthias Geyer, Stefanie Heilmann-Heimbach, F Buket Basmanav, Regina C Betz

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  • Altered Notch signalling in Dowling-Degos disease: A transcriptomic insight into disease pathogenesis.

    The British journal of dermatology

    Authors: Sheetal Kumar, Jonas Hausen, Sugirthan Sivalingam, Aytaj Humbatova, Andreas Buness, Jorge Frank, Damian J Ralser, Regina C Betz

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  • Founder variants in KRT5 and POGLUT1 are implicated in Dowling-Degos disease.

    The Journal of investigative dermatology

    Authors: Sheetal Kumar, Oleg Borisov, Carlo Maj, Damian J Ralser, Aytaj Humbatova, Sandra Hanneken, Astrid Schmieder, Janina Groß, Laura Maintz, Andre Heineke, Jana Knuever, Christina Fagerberg, Laurent Parmentier, Waltraud Anemüller, Vinzenz Oji, Iliana Tantcheva-Poór, Regina Fölster-Holst, Joerg Wenzel, Peter M Krawitz, Jorge Frank, Regina C Betz

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