title: Missense mutations in the human insulin promoter factor-1 gene are not a common cause of type 2 diabetes mellitus in Taiwan.
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.
authors.affiliation: Hung Kuang University, Republic of China.
authors.forename: Ming-Yuh
authors.initials: MY
authors.lastname: Shiau
authors.forename: Chien-Ning
authors.initials: CN
authors.lastname: Huang
authors.forename: Jung-Hua
authors.initials: JH
authors.lastname: Liao
authors.forename: Yih-Hsin
authors.initials: YH
authors.lastname: Chang
mesh_terms: D017668:Age of Onset; D000368:Aged; D015331:Cohort Studies; D003924:Diabetes Mellitus, Type 2 / Q000209:etiology / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D013624:Taiwan; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D015534:Trans-Activators; C084010:pancreatic and duodenal homeobox 1 protein