title: The islet amyloid polypeptide (amylin) gene S20G mutation in Chinese subjects: evidence for associations with type 2 diabetes and cholesterol levels.
abstract: OBJECTIVE
  There has been evidence that the S20G mutation in the islet amyloid polypeptide (amylin) gene may be associated with type 2 diabetes. In the present study, we investigated the distribution of the mutation in Hong Kong Chinese, and examined whether there was evidence for associations between the mutation and type 2 diabetes and/or metabolic profiles.
  
  
  METHODS
  This study involved 227 early and 235 late-onset (defined as onset age < or = 40 and > 40 years, respectively) type 2 diabetic patients, as well as 126 nondiabetic subjects. The mutation was detected using a PCR-RFLP method.
  
  
  RESULTS
  We identified six (2.6%) and one (0.4%) patients heterozygous for the mutation from the early and late-onset groups, respectively (P = 0.05). None of the nondiabetic subjects had the mutation. Insulin deficiency and poor glycaemic control were not common findings amongst carriers of the mutation. In the early onset group, the patients with the mutation had lower plasma levels of total (4.3 +/- 0.9 mmol/l vs. 5.3 +/- 1.1 mmol/l, P = 0.02) and low density lipoprotein (LDL)-cholesterol (2.3 +/- 0.7 mmol/l vs. 3.2 +/- 0.9 mmol/l, P = 0.01) than those without the mutation.
  
  
  CONCLUSIONS
  Our data suggest that the islet amyloid polypeptide gene mutation might be associated with early occurrence of type 2 diabetes and lower plasma levels of total and low density lipoprotein-cholesterol in the Chinese population.
authors.affiliation: Department of Medicine and Therapeutics, The Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China. shaochin@citmail.com
authors.forename: S C
authors.initials: SC
authors.lastname: Lee
authors.forename: Y
authors.initials: Y
authors.lastname: Hashim
authors.forename: J K
authors.initials: JK
authors.lastname: Li
authors.forename: G T
authors.initials: GT
authors.lastname: Ko
authors.forename: J A
authors.initials: JA
authors.lastname: Critchley
authors.forename: C S
authors.initials: CS
authors.lastname: Cockram
authors.forename: J C
authors.initials: JC
authors.lastname: Chan
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000682:Amyloid / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D002784:Cholesterol / Q000097:blood*; D008078:Cholesterol, LDL / Q000097:blood; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006723:Hong Kong; D006801:Humans; D058228:Islet Amyloid Polypeptide; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D000682:Amyloid; D008078:Cholesterol, LDL; D058228:Islet Amyloid Polypeptide; D002784:Cholesterol