Journal article
Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans
J Russlies, A Fähnrich, M Witte, J Yin, S Benoit, R Gläser, C Günter, R Eming, J Erdmann, D Gola, Y Gupta, MM Holtsche, JS Kern, IR König, D Kiritsi, W Lieb, CD Sadik, M Sárdy, F Schauer, N van Beek Show all
Frontiers in Immunology | FRONTIERS MEDIA SA | Published : 2019
Open access
Abstract
Bullous pemphigoid (BP) is the most prevalent autoimmune skin blistering disease and is characterized by the generation of autoantibodies against the hemidesmosomal proteins BP180 (type XVII collagen) and BP230. Most intriguingly, BP is distinct from other autoimmune diseases because it predominantly affects elderly individuals above the age of 75 years, raising the question why autoantibodies and the clinical lesions of BP emerges mostly in this later stage of life, even in individuals harboring known putative BP-associated germline gene variants. The mitochondrial genome (mtDNA) is a potential candidate to provide additional insights into the BP etiology; however, the mtDNA has not been ex..
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Awarded by Deutsche Forschungsgemeinschaft
Funding Acknowledgements
The authors thank everyone involved in the collection of blood samples, as well as all volunteers and patients, who donated blood for the study. We also thank Miriam Freitag, Paul Schilf, Christian Schwarm, and Stefanie Wichmann for advice and/or excellent technical assistance. AF and HB acknowledge support through the high-performance computer cluster of the University of Lubeck OmicsCluster. This work was supported by the Deutsche Forschungsgemeinschaft (EXC306, KFO303, MP-II, and EXC 22167-390884018).