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A genetic CLOCK variant associated with cluster headache causing increased mRNA levels.
Fourier, Carmen; Ran, Caroline; Zinnegger, Margret; Johansson, Anne-Sofie; Sjöstrand, Christina; Waldenlind, Elisabet; Steinberg, Anna; Belin, Andrea Carmine.
Afiliação
  • Fourier C; 1 Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Ran C; 1 Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Zinnegger M; 1 Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Johansson AS; 1 Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Sjöstrand C; 2 Department of Clinical Neuroscience, Division of Neurology, Karolinska University Hospital, Stockholm, Sweden.
  • Waldenlind E; 2 Department of Clinical Neuroscience, Division of Neurology, Karolinska University Hospital, Stockholm, Sweden.
  • Steinberg A; 2 Department of Clinical Neuroscience, Division of Neurology, Karolinska University Hospital, Stockholm, Sweden.
  • Belin AC; 1 Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Cephalalgia ; 38(3): 496-502, 2018 03.
Article em En | MEDLINE | ID: mdl-28466652
Background Cluster headache is characterized by recurrent unilateral headache attacks of severe intensity. One of the main features in a majority of patients is a striking rhythmicity of attacks. The CLOCK ( Circadian Locomotor Output Cycles Kaput) gene encodes a transcription factor that serves as a basic driving force for circadian rhythm in humans and is therefore particularly interesting as a candidate gene for cluster headache. Methods We performed an association study on a large Swedish cluster headache case-control sample (449 patients and 677 controls) screening for three single nucleotide polymorphisms (SNPs) in the CLOCK gene implicated in diurnal preference (rs1801260) or sleep duration (rs11932595 and rs12649507), respectively. We further wanted to investigate the effect of identified associated SNPs on CLOCK gene expression. Results We found a significant association with rs12649507 and cluster headache ( p = 0.0069) and this data was strengthened when stratifying for reported diurnal rhythmicity of attacks ( p = 0.0009). We investigated the effect of rs12649507 on CLOCK gene expression in human primary fibroblast cultures and identified a significant increase in CLOCK mRNA expression ( p = 0.0232). Conclusions Our results strengthen the hypothesis of the involvement of circadian rhythm in cluster headache.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cefaleia Histamínica / Predisposição Genética para Doença / Proteínas CLOCK Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cefaleia Histamínica / Predisposição Genética para Doença / Proteínas CLOCK Idioma: En Ano de publicação: 2018 Tipo de documento: Article