한국인 임신성 당뇨병 여성에서 HNF-1α 유전자 변이 검색 (Mutation Screening of HNF-1α Gene in Korean Women with Gestational Diabetes Mellitus)

서지정보

· 발행기관 : 대한당뇨병학회
· 수록지 정보 : Diabetes and Metabolism Journal / 32권 / 1호 / 38 ~ 43페이지
· 저자명 : 김헌성, 박소영, 임창훈, 윤현구, 정호연, 김성훈, 한기옥, 황선희, 최은선, 김경선, 복정, 이종영

초록

Backgrounds: Gestational diabetes mellitus (GDM) is defined as glucose intolerance with onset or first detection during pregnancy and mostly caused by insulin resistance and β-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-1α gene, also known as MODY3. We investigated whether mutations in HNF-1α 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-1α gene. We evaluated the clinical characteristics of GDM women with HNF-1α gene mutations. Results: Five of 96 patients (5.2%) were found to have a mutation in HNF-1α 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-1α 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-1α gene mutations in Korean women with GDM. (J Kor Diabetes Assoc 32:38~43, 2008)

영어초록

Backgrounds: Gestational diabetes mellitus (GDM) is defined as glucose intolerance with onset or first detection during pregnancy and mostly caused by insulin resistance and β-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-1α gene, also known as MODY3. We investigated whether mutations in HNF-1α 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-1α gene. We evaluated the clinical characteristics of GDM women with HNF-1α gene mutations. Results: Five of 96 patients (5.2%) were found to have a mutation in HNF-1α 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-1α 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-1α gene mutations in Korean women with GDM. (J Kor Diabetes Assoc 32:38~43, 2008)

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