title: Lack of association between hepatocyte nuclear factor-1beta gene and common forms of type 2 diabetes in the Japanese population.
abstract: Mutations in the hepatocyte nuclear factor-1beta (HNF-1beta) gene have been shown to be a cause of maturity-onset diabetes of the young (MODY). We studied the contribution of the HNF-1beta gene to susceptibility to common forms of Type 2 diabetes in the genetically homogeneous Japanese population, by investigating the allelic association of Type 2 diabetes with two markers in the HNF-1beta region. The frequency of a nonsense mutation, R177X, which was previously reported in a Japanese family, was also studied by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method using a mismatch primer. A total of 200 subjects were studied. There was no significant difference in allele frequencies of either of the two polymorphisms studied between patients with Type 2 diabetes and control subjects, or between subgroups of patients subdivided by the presence of mild or severe diabetic nephropathy. None of the subjects studied had R177X mutation, giving a frequency of less than 1.1% in common forms of Type 2 diabetes in Japan. These results suggest that mutations in the HNF-1beta gene derived from a limited number of founders are not a major cause of common forms of Type 2 diabetes, even in the genetically homogeneous Japanese population.
authors.affiliation: Department of Geriatric Medicine, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Babaya
authors.forename: H
authors.initials: H
authors.lastname: Ikegami
authors.forename: T
authors.initials: T
authors.lastname: Fujisawa
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: M
authors.initials: M
authors.lastname: Nishino
authors.forename: M
authors.initials: M
authors.lastname: Itoi-Babaya
authors.forename: H
authors.initials: H
authors.lastname: Taniguchi
authors.forename: S
authors.initials: S
authors.lastname: Noso
authors.forename: M
authors.initials: M
authors.lastname: Horiki
authors.forename: K
authors.initials: K
authors.lastname: Yamada
authors.forename: Y
authors.initials: Y
authors.lastname: Kawaguchi
authors.forename: M
authors.initials: M
authors.lastname: Fukuda
authors.forename: T
authors.initials: T
authors.lastname: Ogihara
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D004268:DNA-Binding Proteins / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003928:Diabetic Nephropathies / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D051539:Hepatocyte Nuclear Factor 1-beta; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C496495:HNF1B protein, human; D014157:Transcription Factors; D051539:Hepatocyte Nuclear Factor 1-beta