Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

C. B. Casp, J. X. She, W. T. McCormack

Research output: Contribution to journalArticle

55 Scopus citations

Abstract

Genes within the class II region of the major histocompatibility complex (MHC), including genes involved in antigen processing and presentation, have been reported to be associated with several autoimmune diseases. We report here that the LMP/TAP gene region is significantly associated with vitiligo, a disorder in which biochemical defects and/or autoimmune destruction cause melanocyte loss and resulting skin depigmentation. Case/control analyses revealed genetic association of vitiligo in Caucasian patients with an early age of onset with the transporter associated with antigen processing-1 (TAP1) gene. A family-based association method revealed biased transmission of specific alleles from heterozygous parents to affected offspring for the TAP1 gene, as well as for the closely linked LMP2 and LMP7 genes encoding subunits of the immunoproteasome. No association with vitiligo was found for the MECL1 gene, which encodes a third immunoproteasome subunit and is unlinked to the MHC class II region. These results suggest a possible role for the MHC class I antigen processing and/or presentation pathway in the antimelanocyte autoimmune response involved in vitiligo pathogenesis.

Original languageEnglish (US)
Pages (from-to)492-499
Number of pages8
JournalGenes and Immunity
Volume4
Issue number7
DOIs
StatePublished - Oct 1 2003

Keywords

  • Association
  • Genetic susceptibility
  • LMP
  • TAP
  • Vitiligo

ASJC Scopus subject areas

  • Immunology
  • Genetics
  • Genetics(clinical)

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