Polymorphisms of the insulin gene among Japanese subjects

We have sequenced the insulin gene in 72 unrelated Japanese subjects (52 with type 2 diabetes mellitus and 20 with normal glucose tolerance). We identified 6 mutations and all were found at a low frequency (1% to 4%). Three mutations were new. These included a C-to-G substitution in the promoter reg...

Full description

Saved in:
Bibliographic Details
Published in:Metabolism, clinical and experimental clinical and experimental, 2001-06, Vol.50 (6), p.631-634
Main Authors: Oda, Naohisa, Nakai, Akira, Fujiwara, Kentaro, Imamura, Shigeo, Fujita, Takashi, Hamagishi, Manami, Kato, Taiya, Kobayashi, Takako, Himeno, Yumiko, Yamamoto, Keiko, Makino, Masaki, Kakizawa, Hiroaki, Sawai, Yoshikuni, Itoh, Mitsuyasu, Nagasaka, Akio
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Biological and medical sciences
Diabetes Mellitus, Type 2 - blood
Diabetes Mellitus, Type 2 - genetics
Diabetes. Impaired glucose tolerance
Endocrine pancreas. Apud cells (diseases)
Endocrinopathies
Etiopathogenesis. Screening. Investigations. Target tissue resistance
Female
Humans
Insulin - blood
Insulin - genetics
Japan
Male
Medical sciences
Middle Aged
Mutation, Missense
Pedigree
Polymorphism, Genetic
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We have sequenced the insulin gene in 72 unrelated Japanese subjects (52 with type 2 diabetes mellitus and 20 with normal glucose tolerance). We identified 6 mutations and all were found at a low frequency (1% to 4%). Three mutations were new. These included a C-to-G substitution in the promoter region, a G-to-A substitution in codon-2 resulting in an Ala-to-Thr replacement in amino acid [minus ]2 of the signal peptide, and a G-to-A substitution in intron 2. We have no evidence that any of the mutations that we found are the cause of diabetes. Thus, mutations in the insulin gene do not appear to be an important genetic factor contributing to the development of diabetes in this population.
ISSN:0026-0495
1532-8600
DOI:10.1053/meta.2001.23283