Source:http://linkedlifedata.com/resource/pubmed/id/16384626
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2006-11-27
|
| pubmed:abstractText |
In our study, we analyzed the coding and promoter regions of the PIN1 gene in a group of 111 Alzheimer's disease (AD) patients looking for a possible genotype-phenotype correlation. The presence of SNPs - which could affect and modify the clinical phenotype of AD patients was also investigated. We identified two single nucleotide polymorphisms (SNPs) at positions -842 (G-->C) and -667 (C-->T) in the promoter region of the PIN1 gene. Our results evidenced a significantly higher percentage of -842C allele carriers in AD subjects with respect to healthy controls. We found that this allele significantly raised the risk of developing AD (OR 3.044, CI 1.42-6.52). The -842 and -667 SNPs were in linkage disequilibrium and combined to form haplotypes. The CC haplotype conferred a higher risk of developing AD (OR 2.95, confidence interval 1.31-6.82). Finally, protein expression analyses revealed that subjects carrying the -842 CC genotype or the CC haplotype showed reduced levels of the PIN1 protein in peripheral mononuclear cells.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
1558-1497
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| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
28
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
69-74
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| pubmed:dateRevised |
2009-11-19
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| pubmed:meshHeading |
pubmed-meshheading:16384626-Aged,
pubmed-meshheading:16384626-Alzheimer Disease,
pubmed-meshheading:16384626-Biological Markers,
pubmed-meshheading:16384626-DNA Mutational Analysis,
pubmed-meshheading:16384626-Female,
pubmed-meshheading:16384626-Genetic Predisposition to Disease,
pubmed-meshheading:16384626-Genetic Testing,
pubmed-meshheading:16384626-Genotype,
pubmed-meshheading:16384626-Heterozygote,
pubmed-meshheading:16384626-Humans,
pubmed-meshheading:16384626-Incidence,
pubmed-meshheading:16384626-Italy,
pubmed-meshheading:16384626-Male,
pubmed-meshheading:16384626-Peptidylprolyl Isomerase,
pubmed-meshheading:16384626-Polymorphism, Single Nucleotide,
pubmed-meshheading:16384626-Promoter Regions, Genetic,
pubmed-meshheading:16384626-Risk Assessment,
pubmed-meshheading:16384626-Risk Factors
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
PIN1 promoter polymorphisms are associated with Alzheimer's disease.
|
| pubmed:affiliation |
Department of Reproductive and Developmental Sciences, University of Trieste, Italy.
|
| pubmed:publicationType |
Journal Article,
Controlled Clinical Trial,
Research Support, Non-U.S. Gov't
|