title: Studies of variability in the islet amyloid polypeptide gene in relation to Type 2 diabetes.
abstract: OBJECTIVE
  To explore whether the coding region of the islet amyloid polypeptide (IAPP) gene contains genetic variants associated with Type 2 diabetes and whether a previously reported association of the promoter variant -132g-->a with Type 2 diabetes could be reproduced in Danish Caucasians.
  
  
  METHODS
  The coding region was analyzed using single strand conformation polymorphism (SSCP) and heteroduplex analysis in 192 Type 2 diabetic patients. Restriction fragment length polymorphism (RFLP) was employed to screen for the promoter variant in 414 Type 2 diabetic patients and 182 glucose-tolerant control subjects.
  
  
  RESULTS
  The SSCP analysis identified an IVS+75a-->g variant in two patients. The frequency of heterozygous carriers of the promoter variant in the case-control study was 4.1% (17/414) and 7.1% (13/182), respectively. Odds ratio of the prevalence of Type 2 diabetes in carriers compared with non-carriers was estimated to be 0.47 (95% confidence interval 0.19, 1.15).
  
  
  CONCLUSIONS
  Neither variability in the coding region of the IAPP gene nor the -132g-->a promoter variant was associated with Type 2 diabetes among the studied Danish Caucasians.
authors.affiliation: Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Copenhagen, Denmark. jpl@dadlnet.dk
authors.forename: J
authors.initials: J
authors.lastname: Pildal
authors.forename: M
authors.initials: M
authors.lastname: Lajer
authors.forename: S K
authors.initials: SK
authors.lastname: Hansen
authors.forename: K
authors.initials: K
authors.lastname: Almind
authors.forename: L
authors.initials: L
authors.lastname: Ambye
authors.forename: K
authors.initials: K
authors.lastname: Borch-Johnsen
authors.forename: B
authors.initials: B
authors.lastname: Carstensen
authors.forename: T
authors.initials: T
authors.lastname: Hansen
authors.forename: O
authors.initials: O
authors.lastname: Pedersen
mesh_terms: D000682:Amyloid / Q000235:genetics*; D001483:Base Sequence; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005838:Genotype; D020180:Heteroduplex Analysis / Q000379:methods; D006801:Humans; D058228:Islet Amyloid Polypeptide; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: D000682:Amyloid; D058228:Islet Amyloid Polypeptide