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Positive association of a Cry1 polymorphism with EDS

Anja Schirmacher, Anna Heidbreder, Svenja Happe, Reinhard Kelsch, Thomas Meißner, Geert Mayer, P. Young

Klinische Neurophysiologie, 2011

86 participants

Abstract

Introduction: Excessive daytime sleepiness (EDS) is the most common symptom related to organic, psychiatric and to other sleep disorders. It presents as the dissociation from the circadian rhythm and is the leading symptom of sleep disorders, which are summarized as hypersomnias of central origin. Our question was to what extent EDS, which could be interpreted as a symptom of a disturbed circadian rhythm may be linked to members of the clock genes. Therefore we performed an association study of Cry1. Methods: We performed an association study in 86 German Caucasian patients (33 female, 53 male, mean age 39.3±13.7 years) suffering from EDS and 89 healthy controls (36 female, 53 male, mean age 53.0±9.0 years) in order to analyze if there is a genetic predisposition resulting from the involvement of sequence variants in the gene CRY1. EDS as the cardinal clinical sign of central hypersomnia including narcolepsy was diagnosed in the Sleep Disorder Section of the University Clinics of Muenster, the Hephata Klinik in Schwalmstadt and the Klinikum Bremen Ost. The identification of SNPs was performed using sequence-based methods and by analysis of the Hapmap database. Genomic-DNA was extracted from peripheral blood using the blood mini kit (Qiagen GmbH, Hilden, Germany). Primers were designed for all protein coding exons of CRY1 (12 exons) using the program Exon Primer. PCR and sequencing was performed using standard protocols. Statistical calculations were performed using SPSS12.…

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Evidence Hub reads this as a cohort study, done in people. Its evidence level is 3 of 5 (Moderate · trial / cohort / secondary analysis). Trials without a large randomized design, cohorts and secondary analyses give moderate evidence. Reported size: 86 participants or records.

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