Genetic predisposition to bullous pemphigoid

J Dermatol Sci. 2020 Nov;100(2):86-91. doi: 10.1016/j.jdermsci.2020.05.010. Epub 2020 May 31.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Autoantigens / genetics*
  • Autoantigens / immunology
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / immunology
  • Genes, MHC Class II / genetics
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Haplotypes
  • Histocompatibility Antigens Class II / genetics
  • Histocompatibility Antigens Class II / immunology*
  • Humans
  • Pemphigoid, Bullous / genetics*
  • Pemphigoid, Bullous / immunology
  • Pemphigoid, Bullous / pathology
  • Polymorphism, Single Nucleotide
  • Skin / immunology
  • Skin / pathology

Substances

  • Autoantigens
  • DNA, Mitochondrial
  • Histocompatibility Antigens Class II