Linked Life Data

11668623

Source:http://linkedlifedata.com/resource/pubmed/id/11668623

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-10-22
pubmed:abstractText
Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor-1beta (HNF-1beta) are known to cause a rare subtype of maturity-onset diabetes of the young (MODY5), which is associated with early-onset progressive non-diabetic renal dysfunction. To investigate whether mutations in HNF-1 are implicated in the pathogenesis of MODY or late-onset diabetes with and without nephropathy in Danish Caucasians we examined the HNF-1beta (TCF2) and the dimerization cofactor of HNF-1 (DCoH, PCBD) genes for mutations in 11 MODY probands, 28 type 2 diabetic patients with nephropathy, and 46 type 2 diabetic patients with an impaired beta-cell function by combined single-strand conformation polymorphism (SSCP) and heteroduplex analysis. Analysis of the promoter and nine exons including intron-exon boundaries of the HNF-1beta gene revealed one novel silent polymorphism and three previously reported intronic variants. The silent polymorphism (I91I) was found in one patient with late-onset type 2 diabetes. One of the intronic variant (IVS6+26T-->C) was examined further. Among 584 type 2 diabetic patients the allelic frequency was 13.1% (11.2-15.0%) compared to 11.6% (8.6-14.5%) in 229 glucose tolerant control subjects (NS). No difference in insulin secretion during an OGTT was seen between carriers of the different IVS6+26T-->C genotypes among the 229 middle-aged control subjects, nor among 302 glucose tolerant 60-year-old Danish Caucasians. Mutation analysis of the four exons comprising the DCoH gene revealed a previously described A-->G polymorphism located in the 3' untranslated region, which was not investigated further. In conclusion, mutations in HNF-1beta and DCoH are not a major cause of MODY or late onset type 2 diabetes in Danish Caucasian subjects.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
Copyright 2001 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
356-7
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:11668623-Adult, pubmed-meshheading:11668623-Age of Onset, pubmed-meshheading:11668623-Aged, pubmed-meshheading:11668623-Blood Glucose, pubmed-meshheading:11668623-DNA Mutational Analysis, pubmed-meshheading:11668623-DNA-Binding Proteins, pubmed-meshheading:11668623-Diabetes Mellitus, Type 2, pubmed-meshheading:11668623-Diabetic Nephropathies, pubmed-meshheading:11668623-European Continental Ancestry Group, pubmed-meshheading:11668623-Exons, pubmed-meshheading:11668623-Female, pubmed-meshheading:11668623-Gene Frequency, pubmed-meshheading:11668623-Glucose Tolerance Test, pubmed-meshheading:11668623-Hepatocyte Nuclear Factor 1-beta, pubmed-meshheading:11668623-Humans, pubmed-meshheading:11668623-Hydro-Lyases, pubmed-meshheading:11668623-Insulin, pubmed-meshheading:11668623-Introns, pubmed-meshheading:11668623-Islets of Langerhans, pubmed-meshheading:11668623-Male, pubmed-meshheading:11668623-Middle Aged, pubmed-meshheading:11668623-Netherlands, pubmed-meshheading:11668623-Phenotype, pubmed-meshheading:11668623-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:11668623-Promoter Regions, Genetic, pubmed-meshheading:11668623-Transcription Factors
pubmed:year
2001
pubmed:articleTitle
Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function.
pubmed:affiliation
Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Copenhagen, Denmark.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't