title: Hepatocyte nuclear factor-1alpha gene and non-insulin-dependent diabetes mellitus in the Japanese population.
abstract: Recently, hepatocyte nuclear factor-1alpha(HNF-1alpha, which is encoded by the TCF1 gene) mutations were reported in a subset of patients with maturity onset diabetes of the young (MODY3). We studied the contribution of TCF1 to genetic susceptibility to common non-insulin-dependent diabetes mellitus (type 2) in Japanese subjects by investigating allelic association with type 2 diabetes use of three markers. We also studied the frequency of the G191D mutation, the only mutation of TCF1 reported so far in late-onset type 2 diabetes. A total of 356 subjects were studied. There were no significant differences in allele frequency of the three markers between patients with type 2 diabetes and control subjects. A G191D mutation was not found in the subjects studied, giving a frequency of less than 0.4% in common type 2 diabetes. The lack of association of type 2 diabetes with three markers in and near TCF1 suggests that mutations in TCF1 derived from a limited number of founders are not a major cause of common type 2 diabetes even in the genetically homogeneous Japanese population. The data also indicate that the G191D mutation in TCF1 plays little, if any, role in susceptibility to common type 2 diabetes in the Japanese.
authors.affiliation: Department of Geriatric Medicine, Osaka University Medical School, Suita, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Babaya
authors.forename: H
authors.initials: H
authors.lastname: Ikegami
authors.forename: Y
authors.initials: Y
authors.lastname: Kawaguchi
authors.forename: T
authors.initials: T
authors.lastname: Fujisawa
authors.forename: Y
authors.initials: Y
authors.lastname: Nakagawa
authors.forename: Y
authors.initials: Y
authors.lastname: Hamada
authors.forename: M
authors.initials: M
authors.lastname: Hotta
authors.forename: H
authors.initials: H
authors.lastname: Ueda
authors.forename: M
authors.initials: M
authors.lastname: Shintani
authors.forename: K
authors.initials: K
authors.lastname: Nojima
authors.forename: Y
authors.initials: Y
authors.lastname: Kawabata
authors.forename: M
authors.initials: M
authors.lastname: Ono
authors.forename: K
authors.initials: K
authors.lastname: Yamada
authors.forename: G Q
authors.initials: GQ
authors.lastname: Shen
authors.forename: M
authors.initials: M
authors.lastname: Fukuda
authors.forename: T
authors.initials: T
authors.lastname: Ogihara
mesh_terms: D000328:Adult; D017668:Age of Onset; D004247:DNA / Q000097:blood; D004268:DNA-Binding Proteins / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D051537:Hepatocyte Nuclear Factor 1; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta; D006801:Humans; D007564:Japan; D009687:Nuclear Proteins; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012016:Reference Values; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D005819:Genetic Markers; C496487:HNF1A protein, human; C496495:HNF1B protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D009687:Nuclear Proteins; D014157:Transcription Factors; D051537:Hepatocyte Nuclear Factor 1; D051539:Hepatocyte Nuclear Factor 1-beta; D004247:DNA