Source:http://linkedlifedata.com/resource/pubmed/id/14764811
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2004-2-6
|
| pubmed:abstractText |
We sequenced the promoter and coding regions of PCK1 encoding cytosolic phosphoenolpyruvate carboxykinase from genomic DNA of subjects with type 2 diabetes mellitus (DM). We found nine single nucleotide polymorphisms (SNPs) that were present with varying allele frequencies and pairwise linkage disequilibrium relationships in different ethnic groups. The -232C-->G promoter SNP was within a cis-acting element required for basal and cAMP-mediated PCK1 gene transcription. The expression of a luciferase reporter construct containing -232G in three different cell lines showed significantly increased basal expression with no down-regulation by insulin compared with a construct containing -232C. The odds ratios for type 2 DM among subjects with one or two copies of -232G compared with -232C/C homozygotes were 1.9 (95% confidence interval, 1.2-3.0) in a Canadian aboriginal sample and 2.8 (95% confidence interval, 1.7-4.7) in a Caucasian sample. Thus, we report a promoter SNP in PCK1 that was resistant to down-regulation by insulin in vitro and was associated with type 2 DM in two independent study samples.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0021-972X
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
89
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
898-903
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| pubmed:dateRevised |
2008-11-21
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| pubmed:meshHeading |
pubmed-meshheading:14764811-Adult,
pubmed-meshheading:14764811-Base Sequence,
pubmed-meshheading:14764811-Canada,
pubmed-meshheading:14764811-Cytosine,
pubmed-meshheading:14764811-DNA,
pubmed-meshheading:14764811-Diabetes Mellitus, Type 2,
pubmed-meshheading:14764811-European Continental Ancestry Group,
pubmed-meshheading:14764811-Female,
pubmed-meshheading:14764811-Genetic Variation,
pubmed-meshheading:14764811-Genotype,
pubmed-meshheading:14764811-Guanine,
pubmed-meshheading:14764811-Homozygote,
pubmed-meshheading:14764811-Humans,
pubmed-meshheading:14764811-Indians, North American,
pubmed-meshheading:14764811-Male,
pubmed-meshheading:14764811-Middle Aged,
pubmed-meshheading:14764811-Phosphoenolpyruvate Carboxykinase (GTP),
pubmed-meshheading:14764811-Polymorphism, Single Nucleotide,
pubmed-meshheading:14764811-Promoter Regions, Genetic
|
| pubmed:year |
2004
|
| pubmed:articleTitle |
Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus.
|
| pubmed:affiliation |
Vascular Biology Research Group, Robarts Research Institute, and Department of Medicine, University of Western Ontario, London, Ontario, Canada N6A 5K8.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|