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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

  • Multi-cytokine based TWAS for seven inflammatory skin disorders identify candidate causal genes in keratinocytes.

    The Journal of allergy and clinical immunology

    Authors: Haihan Zhang, Matthew T Patrick, Mrinal K Sarkar, Rachael Bogle, Qinmengge Li, Ranjitha Uppala, Bethany E Perez White, Lynn Petukhova, Nick Dand, Philip E Stuart, Angela M Christiano, Michael A Simpson, Jonathan N Barker, Stephan Weidinger, Robert L Modlin, Regina C Betz, Dinesh Khanna, John Varga, J Michelle Kahlenberg, Kevin He, James T Elder, Xiang Zhou, Johann E Gudjonsson, Lam C Tsoi

  • Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata.

    Frontiers in immunology

    Authors: Marisol Herrera-Rivero, Yasmina Gossmann, Swapnil Awasthi, Nicole Cesarato, Stephan Ripke, Bettina Blaumeiser, Ulrike Blume-Peytavi, Gerhard Lutz, Silke Redler, Markus M Nöthen, Regina C Betz, F Buket Basmanav

  • Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.

    Human genome variation

    Authors: Sheetal Kumar, Sohail Ahmed, Pietro Incardona, Nicole Cesarato, Yue Zhang, Monica Ines Natale, Muhammad Javed Khan, Laura Valinotto, Kifayat Ullah, Wasim Ahmad, Ines Irurzun, Peter M Krawitz, Bo Liang, Regina C Betz

All publications by Prof. Dr. Regina Betz