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ImmunoChip study implicates antigen presentation to T cells in narcolepsy.

Publication ,  Journal Article
Faraco, J; Lin, L; Kornum, BR; Kenny, EE; Trynka, G; Einen, M; Rico, TJ; Lichtner, P; Dauvilliers, Y; Arnulf, I; Lecendreux, M; Javidi, S ...
Published in: PLoS Genet
2013
Published version (DOI) Link to item

Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis for narcolepsy/hypocretin (orexin) deficiency. We genotyped loci associated with other autoimmune and inflammatory diseases in 1,886 individuals with hypocretin-deficient narcolepsy and 10,421 controls, all of European ancestry, using a custom genotyping array (ImmunoChip). Three loci located outside the Human Leukocyte Antigen (HLA) region on chromosome 6 were significantly associated with disease risk. In addition to a strong signal in the T cell receptor alpha (TRA@), variants in two additional narcolepsy loci, Cathepsin H (CTSH) and Tumor necrosis factor (ligand) superfamily member 4 (TNFSF4, also called OX40L), attained genome-wide significance. These findings underline the importance of antigen presentation by HLA Class II to T cells in the pathophysiology of this autoimmune disease.

Duke Scholars

Birgit Frauscher
Author Birgit Frauscher Neurology, Epilepsy and Sleep
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Published In

PLoS Genet

DOI

10.1371/journal.pgen.1003270

EISSN

1553-7404

Publication Date

2013

Volume

9

Issue

2

Start / End Page

e1003270

Location

United States

Related Subject Headings

  • White People
  • Receptors, Antigen, T-Cell, alpha-beta
  • Orexins
  • Neuropeptides
  • Narcolepsy
  • Intracellular Signaling Peptides and Proteins
  • Humans
  • HLA Antigens
  • Genetic Association Studies
  • Developmental Biology
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Faraco, J., Lin, L., Kornum, B. R., Kenny, E. E., Trynka, G., Einen, M., … Mignot, E. (2013). ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS Genet, 9(2), e1003270. https://doi.org/10.1371/journal.pgen.1003270
Faraco, Juliette, Ling Lin, Birgitte Rahbek Kornum, Eimear E. Kenny, Gosia Trynka, Mali Einen, Tom J. Rico, et al. “ImmunoChip study implicates antigen presentation to T cells in narcolepsy.” PLoS Genet 9, no. 2 (2013): e1003270. https://doi.org/10.1371/journal.pgen.1003270.
Faraco J, Lin L, Kornum BR, Kenny EE, Trynka G, Einen M, et al. ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS Genet. 2013;9(2):e1003270.
Faraco, Juliette, et al. “ImmunoChip study implicates antigen presentation to T cells in narcolepsy.” PLoS Genet, vol. 9, no. 2, 2013, p. e1003270. Pubmed, doi:10.1371/journal.pgen.1003270.
Faraco J, Lin L, Kornum BR, Kenny EE, Trynka G, Einen M, Rico TJ, Lichtner P, Dauvilliers Y, Arnulf I, Lecendreux M, Javidi S, Geisler P, Mayer G, Pizza F, Poli F, Plazzi G, Overeem S, Lammers GJ, Kemlink D, Sonka K, Nevsimalova S, Rouleau G, Desautels A, Montplaisir J, Frauscher B, Ehrmann L, Högl B, Jennum P, Bourgin P, Peraita-Adrados R, Iranzo A, Bassetti C, Chen W-M, Concannon P, Thompson SD, Damotte V, Fontaine B, Breban M, Gieger C, Klopp N, Deloukas P, Wijmenga C, Hallmayer J, Onengut-Gumuscu S, Rich SS, Winkelmann J, Mignot E. ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS Genet. 2013;9(2):e1003270.

Published In

PLoS Genet

DOI

10.1371/journal.pgen.1003270

EISSN

1553-7404

Publication Date

2013

Volume

9

Issue

2

Start / End Page

e1003270

Location

United States

Related Subject Headings

  • White People
  • Receptors, Antigen, T-Cell, alpha-beta
  • Orexins
  • Neuropeptides
  • Narcolepsy
  • Intracellular Signaling Peptides and Proteins
  • Humans
  • HLA Antigens
  • Genetic Association Studies
  • Developmental Biology