title: Missense mutation of the cholecystokinin B receptor gene: lack of association with panic disorder.
abstract: Cholecystokinin tetrapeptide (CCK4) is known to induce panic attacks in patients with panic disorder at a lower dose than in normal controls. Therefore, the cholecystokinin B (CCKB) receptor gene is a candidate gene for panic disorder. We searched for mutations in the CCKB gene in 22 probands of panic disorder pedigrees, using single-strand conformation polymorphism (SSCP) analysis. Two polymorphisms were detected. A polymorphism in an intron (2491 C-->A) between exons 4 and 5 was observed in 10 of 22 probands. A missense mutation in the extracellular loop of exon 2 (1550 G-->A, Val125-->Ile) was found in only one proband. This mutation was also examined in additional 34 unrelated patients with panic disorder and 112 controls. The prevalence rate of this mutation was 8.8% in patients with panic disorder (3/34) and 4.4% in controls (5/112). The mutation did not segregate with panic disorder in two families where this could be tested. These results suggest no pathophysiological significance of this mutation in panic disorder.
authors.affiliation: Department of Psychiatry, University of Iowa College of Medicine, Iowa City 52242-1000, USA.
authors.forename: T
authors.initials: T
authors.lastname: Kato
authors.forename: Z W
authors.initials: ZW
authors.lastname: Wang
authors.forename: T
authors.initials: T
authors.lastname: Zoega
authors.forename: R R
authors.initials: RR
authors.lastname: Crowe
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D017931:DNA Primers; D005091:Exons; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D016584:Panic Disorder / Q000139:chemically induced / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D043887:Receptor, Cholecystokinin B; D011949:Receptors, Cholecystokinin / Q000235:genetics*; D012016:Reference Values; D013758:Tetragastrin
chemical_list: D017931:DNA Primers; D043887:Receptor, Cholecystokinin B; D011949:Receptors, Cholecystokinin; D013758:Tetragastrin