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0026 GENETIC LOCI IN PERIODIC HYPERSOMNIA/KLEINE-LEVIN SYNDROME TYPE

Sleep (New York, N.Y.), 2017-04, Vol.40 (suppl_1), p.A10-A10 [Peer Reviewed Journal]

Sleep Research Society 2017. Published by Oxford University Press [on behalf of the Sleep Research Society]. All rights reserved. For permissions, please email: journals.permissions@oup.com 2017 ;Sleep Research Society 2017. Published by Oxford University Press [on behalf of the Sleep Research Society]. All rights reserved. For permissions, please email: journals.permissions@oup.com ;ISSN: 0161-8105 ;EISSN: 1550-9109 ;DOI: 10.1093/sleepj/zsx050.025

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  • Title:
    0026 GENETIC LOCI IN PERIODIC HYPERSOMNIA/KLEINE-LEVIN SYNDROME TYPE
  • Author: Hillary, RP ; Ollila, HM ; Faraco, J ; Lin, L ; Dauvilliers, Y ; 
Han, F ; Huang, H ; Arnulf, I ; Mignot, E
  • Subjects: Ethnicity ; Sleep
  • Is Part Of: Sleep (New York, N.Y.), 2017-04, Vol.40 (suppl_1), p.A10-A10
  • Description: Abstract Introduction: Kleine-Levin syndrome (KLS) is a rare sleep disorder that affects ~ 1 person in a million and has been suggested to be more frequent in Ashkenazi Jewish. The disorder typically strikes adolescent males and improves with age, often resolving by age 30. KLS, patients have recurrent episodes sometimes lasting up to several weeks where they sleep nearly 24 hours per day. While awake, patients during episodes experience apathy, cognitive disturbances and occasionally hyperphagia and/or hypersexuality. Between episodes, patients are totally asymptomatic. Our aim was to identify genetic variants that contribute to KLS predisposition. Methods: We performed GWAS on 650 KLS cases and 15,000 controls as a part of an international collaboration. The sample contained KLS cases and matched controls from United States, Europe and Asia plus additional controls from the GERA consortium. Genotyping was done using Affy 6.0 and Affymetrix Axiom World Array with ethnicity specific platforms that were imputed to 1000 genomes. Analyses were controlled for population stratification and ethnicity (Caucasian, Ashkenazi Jewish, Asians, other). We also have pursued other approaches in understanding KLS by using Whole Exome Sequencing (WES) data and have identified 14 family pedigrees to pursue family association studies. Furthermore, we are also looking into any shared genetic architectures with other neuropsychiatric disorders. Results: So far we have identified a Genome-wide significant loci near TRANK1. Most interestingly, the leading TRANK1 variant is also reported in other GWAS for bipolar disorder (BD). With this new insight we are looking into identifying any other shared genetic characteristics with BD. Conclusion: The findings give the first biological evidence for disease mechanisms in KLS. Importantly, these results suggest a partially overlapping genetic composition for schizophrenia and KLS. That these patients are not primarily depressed or psychotic during episodes and completely reverse to normality between episodes could suggest important pathophysiological clues linking sleep and episodic psychiatric conditions. Support (If Any): none.
  • Publisher: US: Oxford University Press
  • Language: English
  • Identifier: ISSN: 0161-8105
    EISSN: 1550-9109
    DOI: 10.1093/sleepj/zsx050.025
  • Source: ProQuest One Psychology
    AUTh Library subscriptions: ProQuest Central
    Alma/SFX Local Collection
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