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 language | English |
|---|---|
| Pages (from-to) | 123-127 |
| Number of pages | 5 |
| Journal | Acta Diabetologica |
| Volume | 38 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2001 Dec 1 |
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All Science Journal Classification (ASJC) codes
- Internal Medicine
- Endocrinology, Diabetes and Metabolism
- Endocrinology
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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 journal › Article
TY - JOUR
T1 - Mutation in hepatocyte nuclear factor-1α is not a common cause of MODY and early-onset type 2 diabetes in Korea
AU - Lee, H. J.
AU - Ahn, C. W.
AU - Kim, S. J.
AU - Song, Y. D.
AU - Lim, Sungkil
AU - Kim, K. R.
AU - Lee, H. C.
AU - Huh, K. B.
PY - 2001/12/1
Y1 - 2001/12/1
N2 - 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.
AB - 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.
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U2 - 10.1007/s005920170008
DO - 10.1007/s005920170008
M3 - Article
VL - 38
SP - 123
EP - 127
JO - Acta Diabetologica
JF - Acta Diabetologica
SN - 0940-5429
IS - 3
ER -