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Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia

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Author(s): Seik-Soon Khor | Taku Miyagawa | Hiromi Toyoda | Maria Yamasaki | Yoshiya Kawamura | Hisashi Tanii | Yuji Okazaki | Tsukasa Sasaki | Ling Lin | Juliette Faraco | Tom Rico | Yutaka Honda | Makoto Honda | Emmanuel Mignot | Katsushi Tokunaga

Journal: PeerJ
ISSN 2167-8359

Volume: 1;
Start page: e66;
Date: 2013;
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Keywords: SPRED1 | Essential hypersomnia | NAP5 | NCKAP5 | CRAT | HLA-DQB1*06:02 | Narcolepsy with cataplexy | Narcolepsy | EHS

ABSTRACT
Essential hypersomnia (EHS), a sleep disorder characterized by excessive daytime sleepiness, can be divided into two broad classes based on the presence or absence of the HLA-DQB1*06:02 allele. HLA-DQB1*06:02-positive EHS and narcolepsy with cataplexy are associated with the same susceptibility genes. In contrast, there are fewer studies of HLA-DQB1*06:02 negative EHS which, we hypothesized, involves a different pathophysiological pathway than does narcolepsy with cataplexy. In order to identify susceptibility genes associated with HLA-DQB1*06:02 negative EHS, we conducted a genome-wide association study (GWAS) of 125 unrelated Japanese EHS patients lacking the HLA-DQB1*06:02 allele and 562 Japanese healthy controls. A comparative study was also performed on 268 HLA-DQB1*06:02 negative Caucasian hypersomnia patients and 1761 HLA-DQB1*06:02 negative Caucasian healthy controls. We identified three SNPs that each represented a unique locus— rs16826005 (P = 1.02E-07; NCKAP5), rs11854769 (P = 6.69E-07; SPRED1), and rs10988217 (P = 3.43E-06; CRAT) that were associated with an increased risk of EHS in this Japanese population. Interestingly, rs10988217 showed a similar tendency in its association with both HLA-DQB1*06:02 negative EHS and narcolepsy with cataplexy in both Japanese and Caucasian populations. This is the first GWAS of HLA-DQB1*06:02 negative EHS, and the identification of these three new susceptibility loci should provide additional insights to the pathophysiological pathway of this condition.
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