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

H. J. Lee, C. W. Ahn, S. J. Kim, Y. D. Song, Sungkil Lim, K. R. Kim, H. C. Lee, K. B. Huh

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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, HbAlc, 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.

Original languageEnglish
Pages (from-to)123-127
Number of pages5
JournalActa Diabetologica
Volume38
Issue number3
DOIs
Publication statusPublished - 2001 Dec 1

Fingerprint

Hepatocyte Nuclear Factor 1
Korea
Type 2 Diabetes Mellitus
Mutation
Introns
C-Peptide
Genes
Age of Onset
Codon
Blood Glucose
Exons
Fasting
Body Mass Index
Mason-Type Diabetes
Lipids
Amino Acids
Control Groups

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Lee, H. J. ; Ahn, C. W. ; Kim, S. J. ; Song, Y. D. ; Lim, Sungkil ; Kim, K. R. ; Lee, H. C. ; Huh, K. B. / Mutation in hepatocyte nuclear factor-1α is not a common cause of MODY and early-onset type 2 diabetes in Korea. In: Acta Diabetologica. 2001 ; Vol. 38, No. 3. pp. 123-127.
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Mutation in hepatocyte nuclear factor-1α is not a common cause of MODY and early-onset type 2 diabetes in Korea. / Lee, H. J.; Ahn, C. W.; Kim, S. J.; Song, Y. D.; Lim, Sungkil; Kim, K. R.; Lee, H. C.; Huh, K. B.

In: Acta Diabetologica, Vol. 38, No. 3, 01.12.2001, p. 123-127.

Research output: Contribution to journalArticle

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