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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
12
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pubmed:dateCreated |
1999-4-19
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pubmed:abstractText |
PCR assays were established for easy and fast analysis of two transforming growth factor-beta1 (TGF-beta1) gene mutations, a C to T transition at position 76 in exon 5 resulting in a change from threonine to isoleucine in position 263 (Thr263Ile) of the propeptide and a deletion of a C in the intron sequence eight bases prior to exon 5 (713-8delC). These mutations were evaluated in insulin-dependent diabetes mellitus (IDDM) patients (n = 137) and control subjects (n = 105) and in IDDM patients with (n = 170) and without (n = 99) nephropathy. After evaluating intra- and interindividual variation in TGF-beta1 expression levels, the TGF-beta1 mRNA level in phorbol 12-myristate-13-acetate-stimulated (1 ng/ml) lymphocytes from individuals with different TGF-beta1 genotypes was also studied. No association of the two TGF-beta1 sequence variations with IDDM in general was found. However, a weak but significant association of the Thr263Ile mutation with diabetic nephropathy was found (P = 0.03). No correlation between TGF-beta1 transcription level and genotype of any of the two studied polymorphisms was found. However, significant interindividual differences in TGF-beta1 mRNA levels were observed between the tested individuals (P < 0.0001) compatible with a genetic control mechanism of TGF-beta1 synthesis at the mRNA level.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1046-6673
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2302-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9848784-Amino Acid Substitution,
pubmed-meshheading:9848784-DNA, Complementary,
pubmed-meshheading:9848784-DNA Mutational Analysis,
pubmed-meshheading:9848784-Denmark,
pubmed-meshheading:9848784-Diabetes Mellitus, Type 1,
pubmed-meshheading:9848784-Diabetic Nephropathies,
pubmed-meshheading:9848784-Gene Expression Regulation,
pubmed-meshheading:9848784-Genotype,
pubmed-meshheading:9848784-Introns,
pubmed-meshheading:9848784-Point Mutation,
pubmed-meshheading:9848784-Polymerase Chain Reaction,
pubmed-meshheading:9848784-Polymorphism, Genetic,
pubmed-meshheading:9848784-Sequence Deletion,
pubmed-meshheading:9848784-Tetradecanoylphorbol Acetate,
pubmed-meshheading:9848784-Transforming Growth Factor beta
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pubmed:year |
1998
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pubmed:articleTitle |
TGF-beta1 gene mutations in insulin-dependent diabetes mellitus and diabetic nephropathy.
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pubmed:affiliation |
Steno Diabetes Center, Gentofte, Denmark.
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pubmed:publicationType |
Journal Article,
Comparative Study
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