Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy

• DOI: 10.1212/wnl.57.10.1893
• Publication Date: 2012-05-13T13:54:14Z
• Authors: Marcel Hungs; Ling Lin; Michele Okun; Emmanuel Mignot
• Keywords: Adult; Male; Orexins; Polymorphism, Genetic; Polysomnography; Neuropeptides; Intracellular Signaling Peptides and Proteins; Chromosome Mapping; Middle Aged; 03 medical and health sciences; 0302 clinical medicine; Humans; Female; Genetic Predisposition to Disease; Genetic Testing; Protein Precursors; Carrier Proteins; Promoter Regions, Genetic; Alleles; Narcolepsy

Human narcolepsy/cataplexy is associated with reduced hypocretin (orexin) transmission. A common preprophypocretin (HCRT) polymorphism (−909C/T) was identified and tested in 502 subjects (105 trio families, 80 Caucasian narcolepsy cases, 107 control subjects). This not the disease. The promoter 5′ untranslated (5′URT) regions of HCRT gene (−320 to +21 from ATG) were also sequenced 281 subjects. None carried −22T, a rare 5′UTR previously reported be narcolepsy. locus major susceptibility locus.