An approach based on a genome-wide association study reveals candidate loci for narcolepsy View Full Text


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Article Info

DATE

2010-10

AUTHORS

Mihoko Shimada, Taku Miyagawa, Minae Kawashima, Susumu Tanaka, Yutaka Honda, Makoto Honda, Katsushi Tokunaga

ABSTRACT

Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness, cataplexy, and a pathological manifestation of rapid eye movement during sleep. Narcoleptic pathogenesis is triggered by both genetic and environmental factors. Recently, development of genome-wide association studies (GWAS) has identified new genetic factors, with many more susceptibility genes yet to be elucidated. Using a new approach that consists of a combination of GWAS and an extensive database search for candidate genes, we picked up 202 candidate genes and performed a replication study in 222 narcoleptic patients and 380 controls. Statistical analysis indicated that six genes, NFATC2, SCP2, CACNA1C, TCRA, POLE, and FAM3D, were associated with narcolepsy (P<0.001). Some of these associations were further supported by gene expression analyses and an association study in essential hypersomnia (EHS), CNS hypersonia similar to narcolepsy. This novel approach will be applicable to other GWAS in the search of disease-related susceptibility genes. More... »

PAGES

433-441

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-010-0862-z

    DOI

    http://dx.doi.org/10.1007/s00439-010-0862-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1050399079

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/20677014


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