Bullous pemphigoid (BP) is a common autoimmune blistering skin disease that mainly affects elderly patients. Although BP risk is strongly influenced by age, genetic factors are also important determinants of this disease. Many genomic regions, especially in the HLA-II region, have been found to influence BP susceptibility through targeted sequencing studies. However, the relationship between non-HLA regions and BP susceptibility remains poorly understood and the identification of functional variants and key genes within these association regions remains a major challenge. In this review, we summarize the genetic predisposition to BP through an overview of the research history in this field.
Keywords: Bullous pemphigoid; Genetic predisposition; Human leukocyte antigen; Mitochondrial DNA; Non-HLA.
Copyright © 2020 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.