Narcolepsy is strongly associated with the T-cell receptor alpha locus

Nat Genet. 2009 Jun;41(6):708-11. doi: 10.1038/ng.372. Epub 2009 May 3.

Abstract

Narcolepsy with cataplexy, characterized by sleepiness and rapid onset into REM sleep, affects 1 in 2,000 individuals. Narcolepsy was first shown to be tightly associated with HLA-DR2 (ref. 3) and later sublocalized to DQB1*0602 (ref. 4). Following studies in dogs and mice, a 95% loss of hypocretin-producing cells in postmortem hypothalami from narcoleptic individuals was reported. Using genome-wide association (GWA) in Caucasians with replication in three ethnic groups, we found association between narcolepsy and polymorphisms in the TRA@ (T-cell receptor alpha) locus, with highest significance at rs1154155 (average allelic odds ratio 1.69, genotypic odds ratios 1.94 and 2.55, P < 10(-21), 1,830 cases, 2,164 controls). This is the first documented genetic involvement of the TRA@ locus, encoding the major receptor for HLA-peptide presentation, in any disease. It is still unclear how specific HLA alleles confer susceptibility to over 100 HLA-associated disorders; thus, narcolepsy will provide new insights on how HLA-TCR interactions contribute to organ-specific autoimmune targeting and may serve as a model for over 100 other HLA-associated disorders.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 22 / genetics
  • DNA Replication / genetics
  • Dogs
  • Genotype
  • Humans
  • Hypothalamus / immunology
  • Hypothalamus / pathology
  • Mice
  • Narcolepsy / genetics*
  • Narcolepsy / immunology
  • Polymorphism, Single Nucleotide
  • Receptors, Antigen, T-Cell, alpha-beta / genetics*

Substances

  • Receptors, Antigen, T-Cell, alpha-beta