Lack of association between hepatocyte nuclear factor-1beta gene and common forms of type 2 diabetes in the Japanese population

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, b...

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Published inDiabetes, nutrition & metabolism Vol. 14; no. 4; p. 220
Main Authors Babaya, N, Ikegami, H, Fujisawa, T, Hotta, M, Ueda, H, Shintani, M, Nojima, K, Kawabata, Y, Ono, M, Nishino, M, Itoi-Babaya, M, Taniguchi, H, Noso, S, Horiki, M, Yamada, K, Kawaguchi, Y, Fukuda, M, Ogihara, T
Format Journal Article
LanguageEnglish
Published Italy 01.08.2001
Subjects
Adult
Aged
Alleles
Diabetes Mellitus, Type 2 - genetics
Diabetic Nephropathies - genetics
DNA-Binding Proteins - genetics
Female
Gene Frequency
Genetic Predisposition to Disease
Hepatocyte Nuclear Factor 1-beta
Humans
Japan
Male
Middle Aged
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Transcription Factors - genetics
Japan
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Summary: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.
ISSN:0394-3402