Missense mutations in the human insulin promoter factor-1 gene are not a common cause of type 2 diabetes mellitus in Taiwan

J Endocrinol Invest. 2004 Dec;27(11):1076-80. doi: 10.1007/BF03345313.

Abstract

Type 2 diabetes mellitus (T2DM) is a common metabolic disorder characterized by a hyperglycemia resulting from defect in insulin secretion and insulin action. Recent studies showed that dominant negative mutations in the insulin promoter factor-1 (IPF-1), a pancreatic beta-cell specific transcription factor, cause maturity-onset diabetes of the young (MODY), a subtype of T2DM with early onset and monogenic autosomal inheritance. In addition to MODY, IPF-1 mutations are suggested to predispose to common late-onset T2DM with different penetration of the mutations reflected in their in vitro activity. Thus, we investigated IPF-1 C18R, Q59L, D76N and R197H mutations in Taiwanese patients with common late-onset T2DM, because research into IPF-1 variants in Taiwanese diabetic patients--a population with the lowest range of diabetic incidence--has never been documented. Peripheral blood samples were collected and genomic DNA was extracted from 434 patients with T2DM and 194 non-diabetes control study subjects. IPF-1 genetic variations were analyzed by PCR and restriction fragment length polymorphism (RFLP) analysis. We did not find any of these four IPF-1 mutations in our patients. Our results suggested that IPF-1 mutations were not a common cause associated with Taiwanese T2DM.

MeSH terms

  • Age of Onset
  • Aged
  • Cohort Studies
  • Diabetes Mellitus, Type 2 / etiology
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Genetic Variation
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Risk Factors
  • Taiwan
  • Trans-Activators / genetics*

Substances

  • Homeodomain Proteins
  • Trans-Activators
  • pancreatic and duodenal homeobox 1 protein