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Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy

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  • Hyun Hor
  • Zoltán Kutalik
  • Yves Dauvilliers
  • Armand Valsesia
  • Gert J Lammers
  • Claire E H M Donjacour
  • Alex Iranzo
  • Joan Santamaria
  • Rosa Peraita Adrados
  • José L Vicario
  • Sebastiaan Overeem
  • Isabelle Arnulf
  • Ioannis Theodorou
  • Poul Jennum
  • Stine Knudsen
  • Claudio Bassetti
  • Johannes Mathis
  • Michel Lecendreux
  • Geert Mayer
  • Peter Geisler
  • Antonio Benetó
  • Brice Petit
  • Corinne Pfister
  • Julie Vienne Bürki
  • Gérard Didelot
  • Michel Billiard
  • Guadalupe Ercilla
  • Willem Verduijn
  • Frans H J Claas
  • Peter Vollenweider
  • Peter Vollenwider
  • Gerard Waeber
  • Dawn M Waterworth
  • Vincent Mooser
  • Raphaël Heinzer
  • Jacques S Beckmann
  • Sven Bergmann
  • Mehdi Tafti
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Narcolepsy is a rare sleep disorder with the strongest human leukocyte antigen (HLA) association ever reported. Since the associated HLA-DRB1*1501-DQB1*0602 haplotype is common in the general population (15-25%), it has been suggested that it is almost necessary but not sufficient for developing narcolepsy. To further define the genetic basis of narcolepsy risk, we performed a genome-wide association study (GWAS) in 562 European individuals with narcolepsy (cases) and 702 ethnically matched controls, with independent replication in 370 cases and 495 controls, all heterozygous for DRB1*1501-DQB1*0602. We found association with a protective variant near HLA-DQA2 (rs2858884; P <3 x 10(-8)). Further analysis revealed that rs2858884 is strongly linked to DRB1*03-DQB1*02 (P <4 x 10(-43)) and DRB1*1301-DQB1*0603 (P <3 x 10(-7)). Cases almost never carried a trans DRB1*1301-DQB1*0603 haplotype (odds ratio = 0.02; P <6 x 10(-14)). This unexpected protective HLA haplotype suggests a virtually causal involvement of the HLA region in narcolepsy susceptibility.
Original languageEnglish
JournalNature Genetics
Volume42
Issue number9
Pages (from-to)786-9
Number of pages4
ISSN1061-4036
DOIs
Publication statusPublished - 1 Sep 2010

ID: 32309346