Source:http://linkedlifedata.com/resource/pubmed/id/17620318
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2007-9-3
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pubmed:abstractText |
The genes causing type 2 diabetes (T2D), a complex heterogeneous disorder, differ and/or overlap in various populations. Among others there are two loci in linkage to T2D, the chromosomes 20q12-13.1 and 12q15. These two regions harbor two genes, C/EBPbeta and CHOP, which are excellent candidate genes for T2D. In fact, C/EBPbeta protein cooperates with HNF4alpha (MODY1, monogenic form of diabetes) and 1alpha (MODY3, monogenic form of diabetes). C/EBPbeta mediates suppression of insulin gene transcription in hyperglycemia and may contribute to insulin-resistance. It interacts in a complex pathway with the CHOP protein. CHOP may play a role in altered beta-cell glucose metabolism, in beta-cell apoptosis, and in lack of beta-cell replication. Thus, both C/EBPbeta and CHOP genes may independently and interactively contribute to T2D. The chromosomal regions targeting C/EBPbeta and CHOP genes have never been previously explored in T2D. We planned to identify their potential contribution to T2D in Italians. We have genotyped a group of affected siblings/families with both late- and early-onset T2D around the C/EBPbeta and the CHOP genes. We have performed non-parametric linkage analysis in the total T2D group, in the late-onset and the early-onset group, separately. We have identified a suggestive linkage to T2D in the CHOP gene locus in the early-onset T2D group (P = 0.04). We identified the linkage to T2D in the chromosome 12q15 region in the early-onset T2D families and specifically target the CHOP gene. Our next step will be the identification of CHOP gene variants, which may contribute to the linkage to T2D in Italians.
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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 |
Nov
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pubmed:issn |
0021-9541
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
213
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
552-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:17620318-Adult,
pubmed-meshheading:17620318-CCAAT-Enhancer-Binding Protein-beta,
pubmed-meshheading:17620318-Chromosomes, Human, Pair 12,
pubmed-meshheading:17620318-Diabetes Mellitus, Type 2,
pubmed-meshheading:17620318-Ethnic Groups,
pubmed-meshheading:17620318-Gene Frequency,
pubmed-meshheading:17620318-Genetic Linkage,
pubmed-meshheading:17620318-Genotype,
pubmed-meshheading:17620318-Humans,
pubmed-meshheading:17620318-Italy,
pubmed-meshheading:17620318-Transcription Factor CHOP
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pubmed:year |
2007
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pubmed:articleTitle |
Linkage studies for T2D in Chop and C/EBPbeta chromosomal regions in Italians.
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pubmed:affiliation |
Laboratory of Molecular Genetics of Monogenic and Complex Disorders, Endocrinology, Diabetes & Metabolism, Medicine and Cellular & Molecular Physiology, Milton S. Hershey Medical Center, Hershey, Pennsylvania 17033, USA. claudia.grapnoli@gmail.com
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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