Cited 15 times in
Mutation in hepatocyte nuclear factor-1α is not a common cuase of MODY and early-onset type 2 diabetes in Korea
DC Field | Value | Language |
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dc.contributor.author | 안철우 | - |
dc.contributor.author | 이현철 | - |
dc.date.accessioned | 2016-02-19T11:07:32Z | - |
dc.date.available | 2016-02-19T11:07:32Z | - |
dc.date.issued | 2001 | - |
dc.identifier.issn | 0940-5429 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/142452 | - |
dc.description.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. 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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 123~127 | - |
dc.relation.isPartOf | ACTA DIABETOLOGICA | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Age of Onset | - |
dc.subject.MESH | Base Sequence/genetics | - |
dc.subject.MESH | DNA-Binding Proteins* | - |
dc.subject.MESH | Diabetes Mellitus, Type 2/epidemiology* | - |
dc.subject.MESH | Diabetes Mellitus, Type 2/genetics* | - |
dc.subject.MESH | Exons | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Hepatocyte Nuclear Factor 1 | - |
dc.subject.MESH | Hepatocyte Nuclear Factor 1-alpha | - |
dc.subject.MESH | Hepatocyte Nuclear Factor 1-beta | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Mutation/physiology* | - |
dc.subject.MESH | Nuclear Proteins* | - |
dc.subject.MESH | Polymorphism, Genetic | - |
dc.subject.MESH | Transcription Factors/genetics* | - |
dc.title | Mutation in hepatocyte nuclear factor-1α is not a common cuase of MODY and early-onset type 2 diabetes in Korea | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학) | - |
dc.contributor.googleauthor | H. J. Lee | - |
dc.contributor.googleauthor | C. W. Ahn | - |
dc.contributor.googleauthor | S. J. Kim | - |
dc.contributor.googleauthor | Y. D. Song | - |
dc.contributor.googleauthor | S. K. Lim | - |
dc.contributor.googleauthor | K. R. Kim | - |
dc.contributor.googleauthor | H. C. Lee | - |
dc.contributor.googleauthor | K. B. Huh | - |
dc.identifier.doi | 10.1007/s005920170008 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A02270 | - |
dc.contributor.localId | A03301 | - |
dc.relation.journalcode | J00013 | - |
dc.identifier.eissn | 1432-5233 | - |
dc.identifier.pmid | 11827432 | - |
dc.identifier.url | http://link.springer.com/article/10.1007/s005920170008 | - |
dc.subject.keyword | korean | - |
dc.subject.keyword | mutation | - |
dc.subject.keyword | HNF-1a | - |
dc.subject.keyword | early-onset type 2 diabetes | - |
dc.contributor.alternativeName | Ahn, Chul Woo | - |
dc.contributor.alternativeName | Lee, Hyun Chul | - |
dc.contributor.affiliatedAuthor | Ahn, Chul Woo | - |
dc.contributor.affiliatedAuthor | Lee, Hyun Chul | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 38 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 123 | - |
dc.citation.endPage | 127 | - |
dc.identifier.bibliographicCitation | ACTA DIABETOLOGICA, Vol.38(3) : 123-127, 2001 | - |
dc.identifier.rimsid | 31011 | - |
dc.type.rims | ART | - |
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