Korean Diabetes Journal 2002;26(5):328-335.
Published online October 1, 2002.
Polymorphism of the Hepatocyte Nuclear Factor-1alpha Gene in the Early-onset of Type 2 Diabetes Mellitus with a Strong Family History in Korea.
Eun Seok Kang, Si Hoon Lee, Zheng Shan Zhao, Chul Woo Ahn, Bong Soo Cha, Sung Kil Lim, Kyung Rae Kim, Hyun Chul Lee, Kab Bum Huh, Young Soo Ahn
Department of Internal Medicine, Pharmacology, Yonsei University College of Medicine, Seoul, Korea.
Maturity-onset diabetes of the young (MODY) is a genetically heterogenous subtype of type 2 diabetes characterized by an early onset, usually before 25 years of age, autosomal dominant inheritance and a primary defect in insulin secretion. Mutation of the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene is known to be a cause of MODY3. This study was carried out to reveal whether HNF-1alpha gene polymorphism is a common cause of early-onset type 2 diabetes and MODY in the Korean population. METHODS: Members of 12 pedigrees families with MODY and early-onset of type 2 diabetes were selected for the mutation detection. All of the families involved had at least two members with type 2 diabetes diagnosed before the age of 40 years, where the diabetes was inherited as an autosomal dominant trait, with at least 3 generations of diabetic subjects. Genomic DNA was extracted from whole- blood samples. The 10 exons and the promotor of the HNF-1alpha gene were sequenced. RESULTS: In codon 17 of exon 1, 2 of the 10 control subjects and 5 of the 12 patients had nucleotide replacement where the CTC nucleotide was replaced by the CTG (p=0.381). This is a silent mutation where both the CTC and CTG code have the same amino acid leucine. In codon 27 of exon 1, 5 patients had a silent mutation, where the codon ATC is replaced by CTC and the amino acid changes from isoleucine to leucine, but no mutation was found in the control group (p=0.040). In codon 459 of exon 7, 2 of the controls and 3 of the patient group had a silent mutation (CTG -> TTG) that were both codon code leucine (p=1.000). Another missense mutation was observed in codon 487 of exon 7. Nucleotide AGC (serine) was replaced by AAC (asparagines). This mutation was observed in 5 control subjects and 10 patients (p=0.172). CONCLUSION: This study did not reveal a new HNF-1alpha gene polymorphism. We conclude that the HNF-1alpha gene polymorphism does not play a major role in the early-onset of type 2 diabetes with a strong family history in Korea.
Key Words: Hepatocyte nuclear factor-1, Maturity onset diabetes mellitus, Early onset diabetes mellitus, Mutation

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