Diabetes Metab J > Volume 32(1); 2008 > Article
Korean Diabetes Journal 2008;32(1):38-43.
DOI: https://doi.org/10.4093/kdj.2008.32.1.38    Published online February 1, 2008.
Mutation Screening of HNF-1alpha Gene in Korean Women with Gestational Diabetes Mellitus.
Hun Sung Kim, Sun Hee Hwang, Eun Sun Choi, So Young Park, Chang Hoon Yim, Ki Ok Han, Hyun Koo Yoon, Ho Yeon Chung, Kyung Seon Kim, Jeong Bok, Jong Young Lee, Sung Hoon Kim
1Department of Medicine, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Korea.
2Department of Medicine, Kyung Hee University College of Medicine, Korea.
3Center for Genome Science, National Genome Research Institute, NIH, Korea.
Abstract
BACKGROUND
S: Gestational diabetes mellitus (GDM) is defined as glucose intolerance with onset or first detection during pregnancy and mostly caused by insulin resistance and beta-cell dysfunction like type 2 diabetes. However, autoimmune or monogenic diabetes can contribute to GDM. Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by an early age of onset and an autosomal dominant pattern of inheritance. Most MODY cases are attributable to mutations in HNF-1alpha gene, also known as MODY3. We investigated whether mutations in HNF-1alpha gene are present in Korean women with GDM. METHODS: A total of 96 Korean women with GDM who have a family history of DM were screened for mutations in the HNF-1alpha gene. We evaluated the clinical characteristics of GDM women with HNF-1alpha gene mutations. RESULTS: Five of 96 patients (5.2%) were found to have a mutation in HNF-1alpha gene. Four of those (-23C > G, 833G > A (Arg278Gln), 923C > T, IVS5 + 106A > G) were novel and one (-124G > C) in promoter region was reported in previous study. The mean age of GDM women with mutations of HNF-1alpha gene was 34 years. Four women with MODY3 gene mutations required insulin therapy during pregnancy. GDM women with MODY3 gene mutations appeared to be decreased insulin secretion (HOMA-%B) than those without mutations. CONCLUSIONS: We have found the existence of MODY3 as well as novel HNF-1alpha gene mutations in Korean women with GDM.
Key Words: Gestational diabetes mellitus, HNF-1alpha gene, MODY3 mutations


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