title: Screening for mutations in the neuropeptide Y Y5 receptor gene in cohorts belonging to different weight extremes.
abstract: OBJECTIVE
  The neuropeptide Y (NPY) Y5 receptor is presumed to be involved in the regulation of food intake.
  
  
  METHODS
  To investigate the possible role of this receptor in weight regulation, the whole coding region of the NPY Y5 receptor gene was screened for mutations using temperature gradient gel electrophoresis (TGGE). Detected mutations were screened in extended cohorts. STUDY COHORTS AND METHODS: Cohorts of 87 extremely obese children and adolescents, 15 underweight subjects and 25 patients with anorexia nervosa (AN) were initially screened by TGGE. Extended samples of these cohorts (160 obese children and adolescents; mean body mass index (BMI) 33.5 +/- 6.4 kg/m2, 128 underweight subjects; mean BMI 18.4 +/- 1.0 kg/m2 and 58 patients with AN; mean BMI 14.6 +/- 1.7 kg/m2) were screened to determine the frequencies of a detected mutation and a detected polymorphism in the NPY Y5 receptor gene. In addition, a previously described polymorphism in the first intron of the NPY Y1 receptor gene was analysed.
  
  
  RESULTS
  The coding region of the NPY Y5 receptor gene encompasses one exon. A single mutation, which results in a non-conservative amino acid substitution in the first extracellular domain of the receptor (Glu-4-Ala), and one silent polymorphism (Gly-426-Gly-Gly) at nucleotide position 1278 (G-->A) were detected by TGGE. Both tests for association and linkage to the NPY Y1 and NPY Y5 receptor polymorphisms were negative among all cohorts. The Glu-4-Ala mutation was found only in a single patient with AN and her mother.
  
  
  CONCLUSIONS
  The results do not support a major role of the NPY Y5 receptor gene in the variability of body weight in children and adolescents.
authors.affiliation: Department of Child and Adolescent Psychiatry of the University of Marburg, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Rosenkranz
authors.forename: A
authors.initials: A
authors.lastname: Hinney
authors.forename: A
authors.initials: A
authors.lastname: Ziegler
authors.forename: S
authors.initials: S
authors.lastname: von Prittwitz
authors.forename: N
authors.initials: N
authors.lastname: Barth
authors.forename: H
authors.initials: H
authors.lastname: Roth
authors.forename: H
authors.initials: H
authors.lastname: Mayer
authors.forename: W
authors.initials: W
authors.lastname: Siegfried
authors.forename: G
authors.initials: G
authors.lastname: Lehmkuhl
authors.forename: F
authors.initials: F
authors.lastname: Poustka
authors.forename: M
authors.initials: M
authors.lastname: Schmidt
authors.forename: H
authors.initials: H
authors.lastname: Schäfer
authors.forename: H
authors.initials: H
authors.lastname: Remschmidt
authors.forename: J
authors.initials: J
authors.lastname: Hebebrand
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000856:Anorexia Nervosa / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D015331:Cohort Studies; D017931:DNA Primers / Q000737:chemistry; D005838:Genotype; D006801:Humans; D009767:Obesity, Morbid / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D017476:Receptors, Neuropeptide Y / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013851:Thinness / Q000235:genetics*
chemical_list: D017931:DNA Primers; D017476:Receptors, Neuropeptide Y