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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

regina.betz@uni-bonn.de

+49 228 28751023

Website

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.

Regina Betz

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Recent publications

  • A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix.

    The British journal of dermatology

    Authors: Xing Xiong, Nicole Cesarato, Yasmina Gossmann, Maria Wehner, Sheetal Kumar, Holger Thiele, Stephanie Demuth, Vinzenz Oji, Matthias Geyer, Henning Hamm, F Buket Basmanav, Regina C Betz

  • Novel pathogenic variants in HR underlie atrichia with papular lesions in a cohort of 10 families.

    The Journal of dermatology

    Authors: Kifayat Ullah, Sohail Ahmed, Nicole Cesarato, Xing Xiong, Maria Taj, Naushaba Manan, Maria Wehner, Muhammad Javed Khan, Hammal Khan, Sabba Mehmood, Muhammad Sharif Hasni, Dariusz Michna, Rehmana Waris, Henning Hamm, Regina C Betz, Wasim Ahmad, Imran Ullah

  • Gene expression profiling in porocarcinoma indicates heterogeneous tumor development and substantiates poromas as precursor lesions.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Svenja Holst, Anna K Weber, Friedegund Meier, Jörg Otte, Patrick Petzsch, Julia Reifenberger, Thorsten Wachtmeister, Dana Westphal, Mirjana Ziemer, Wasco Wruck, James Adjaye, Regina C Betz, Arno Rütten, Harald M Surowy, Silke Redler

All publications by Prof. Dr. Regina Betz