title: Mutation analysis of oxytocin gene in individuals with adult separation anxiety.
abstract: Individuals with a diagnosis of adult separation anxiety (ASAD) have extreme anxiety about separations, actual or imagined, from major attachment figures. ASAD might represent a psychological/behavioral model for research probably involving a dysregulation of those neurobiological mechanisms of attachment, in particular central oxytocin (OT), described in numerous animal studies. As experimental strategy, we chose the nucleotidic sequencing of the human OT gene of patients with ASAD to evaluate whether OT mutations were related to potential alteration of its production. With this aim, mutation scanning of proximal promoter and untranslated and coding regions of the OT gene was carried out in 36 patients with ASAD, 14 patients without ASAD, and 26 controls. No mutations were found in promoter and coding regions of the OT gene in our population. One rare 3'UTR single nucleotide variant (rs17339677) and one intron 2 molecular variant (rs34097556), which showed a high frequency, were evidenced. There was no significant difference in the genotype distribution of this intron 2 polymorphism between patients and healthy individuals. Further research is needed to investigate the association between ASAD and OT peptide and receptor polymorphisms.
authors.affiliation: Department of Human Morphology and Applied Biology, University of Pisa, via Volta 4, 56126 Pisa, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Costa
authors.forename: Stefano
authors.initials: S
authors.lastname: Pini
authors.forename: Claudia
authors.initials: C
authors.lastname: Martini
authors.forename: Marianna
authors.initials: M
authors.lastname: Abelli
authors.forename: Pamela
authors.initials: P
authors.lastname: Gabelloni
authors.forename: Osele
authors.initials: O
authors.lastname: Ciampi
authors.forename: Matteo
authors.initials: M
authors.lastname: Muti
authors.forename: Camilla
authors.initials: C
authors.lastname: Gesi
authors.forename: Lisa
authors.initials: L
authors.lastname: Lari
authors.forename: Alessandra
authors.initials: A
authors.lastname: Cardini
authors.forename: Armida
authors.initials: A
authors.lastname: Mucci
authors.forename: Paola
authors.initials: P
authors.lastname: Bucci
authors.forename: Antonio
authors.initials: A
authors.lastname: Lucacchini
authors.forename: Giovanni Battista
authors.initials: GB
authors.lastname: Cassano
mesh_terms: D020413:3' Untranslated Regions; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D001010:Anxiety, Separation / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation / Q000235:genetics*; D010120:Oxytocics; D010121:Oxytocin / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D020413:3' Untranslated Regions; D010120:Oxytocics; D010121:Oxytocin