title: Mutation screening of the hepatocyte nuclear factor (HNF)-6 gene in Japanese subjects with diabetes mellitus.
abstract: Heterozygous mutations in the genes encoding transcription factors (HNF-1alpha, HNF-1beta and HNF-4alpha) in the hepatocyte nuclear factor (HNF) network are associated with maturity-onset diabetes of the young (MODY). We screened HNF-6 gene for mutations in 34 Japanese subjects with MODY/early-onset diabetes mellitus and 56 subjects with late-onset diabetes mellitus. One single nucleotide polymorphism (SNP) at codon 287 (GGG to GGT) was found in the gene and the frequency was similar among MODY/early-onset diabetes, late-onset diabetes and control subjects. Genetic variations in the HNF-6 gene are not likely to contribute to the susceptibility to diabetes mellitus in Japanese.
authors.affiliation: Department of Internal Medicine and Molecular Science, Graduate School of Medicine, B5, Osaka University, 2-2 Yamada-oka, Suita, Osaka, 565-0871, Japan. kazu@imed2.med.osaka-u.ac.jp
authors.forename: Q
authors.initials: Q
authors.lastname: Zhu
authors.forename: K
authors.initials: K
authors.lastname: Yamagata
authors.forename: Y
authors.initials: Y
authors.lastname: Tsukahara
authors.forename: Q
authors.initials: Q
authors.lastname: Yang
authors.forename: W
authors.initials: W
authors.lastname: Liu
authors.forename: T
authors.initials: T
authors.lastname: Hanafusa
authors.forename: J
authors.initials: J
authors.lastname: Miyagawa
authors.forename: Y
authors.initials: Y
authors.lastname: Matsuzawa
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D044466:Asian People; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005190:Family; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D051559:Hepatocyte Nuclear Factor 6; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D051559:Hepatocyte Nuclear Factor 6; D018398:Homeodomain Proteins; C496605:ONECUT1 protein, human; D015534:Trans-Activators