title: Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation.
abstract: BACKGROUND
  NDN, which codes for the human necdin protein, is a candidate gene for Prader-Willi syndrome (PWS). One feature of this neurogenetic disorder is hyperphagia resulting in extreme obesity observed later in development.
  
  
  OBJECTIVE
  In this study we have used single-strand conformation polymorphism (SSCP) analysis to identify sequence variants at the human necdin gene. Furthermore we tested whether these variants were associated with obesity in extremely obese German children and adolescents.
  
  
  RESULTS
  Two gene variants could be identified: a g.1352T-->C polymorphism in the putative promotor region and a silent g.2311C-->T polymorphism in the coding region. Genotype and allele frequency distribution of both of the polymorphisms were not significantly different between lower and higher body mass index (BMI) subjects.
  
  
  CONCLUSIONS
  Hence, it is unlikely that these polymorphisms play a major role in the emergence of juvenile onset human obesity.
authors: Institute of Human Genetics, Philipps-University of Marburg, Bahnhofstr. 7a, 35037 Marburg, Germany. oeffner@mailer.uni-marburg.de
authors: F
authors: F
authors: Oeffner
authors: T
authors: T
authors: Korn
authors: H
authors: H
authors: Roth
authors: A
authors: A
authors: Ziegler
authors: A
authors: A
authors: Hinney
authors: H
authors: H
authors: Goldschmidt
authors: W
authors: W
authors: Siegfried
authors: J
authors: J
authors: Hebebrand
authors: K H
authors: KH
authors: Grzeschik
mesh_terms: D000293:Adolescent; D015992:Body Mass Index; D001835:Body Weight / Q000502:physiology*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D009767:Obesity, Morbid / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011401:Promoter Regions, Genetic
chemical_list: D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; C069766:necdin