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Mutation in hepatocyte nuclear factor-1α is not a common cuase of MODY and early-onset type 2 diabetes in Korea

 H. J. Lee  ;  C. W. Ahn  ;  S. J. Kim  ;  Y. D. Song  ;  S. K. Lim  ;  K. R. Kim  ;  H. C. Lee  ;  K. B. Huh 
 ACTA DIABETOLOGICA, Vol.38(3) : 123-127, 2001 
Journal Title
Issue Date
Adult ; Age of Onset ; Base Sequence/genetics ; DNA-Binding Proteins* ; Diabetes Mellitus, Type 2/epidemiology* ; Diabetes Mellitus, Type 2/genetics* ; Exons ; Female ; Hepatocyte Nuclear Factor 1 ; Hepatocyte Nuclear Factor 1-alpha ; Hepatocyte Nuclear Factor 1-beta ; Humans ; Male ; Mutation/physiology* ; Nuclear Proteins* ; Polymorphism, Genetic ; Transcription Factors/genetics*
korean ; mutation ; HNF-1a ; early-onset type 2 diabetes
Maturity-onset diabetes of the young (MODY)-3 with a mutation in hepatocyte nuclear factor (HNF)-1α has been identified in most races, but the prevalence of Korean MODY and early-onset type 2 diabetes with a mutation in this gene is unknown. To determine the prevalence of MODY and early-onset type 2 diabetes with the mutation of HNF-1α gene in Korea, we analyzed this gene in 69 Korean early-onset type 2 diabetics and in 35 healthy persons using the single-strand conformation polymorphism (SSCP) technique and direct sequencing. We identified one mutation in exon 4 (C900A) in only one of the 69 Korean subjects with early-onset type 2 diabetes; this mutation was silent and did not change the amino acid (Pro300). Additionally, we identified four polymorphisms: S487N, AAC→AGC, intron 2 (nt −23), intron 7: (nt +7) and intron 9 (nt −24). However, there was no significant difference in frequencies of the four polymorphisms between the type 2 diabetes and control groups. Among type 2 diabetics, codon 487 variant showed no relationship to age at onset, body mass index, fasting blood glucose. HbA1c, lipid profile, basal C-peptide and 2 hour C-peptide. We concluded that this genetic mutation in HNF-1α gene may not be a common contributor to MODY and early-onset type 2 diabetes susceptibility in Korea.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Ahn, Chul Woo(안철우) ORCID logo https://orcid.org/0000-0003-3733-7486
Lee, Hyun Chul(이현철)
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