In our study, we analyzed the coding and promoter regions of the PIN I gene in a group of I I I 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 disequilibriurn 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. (c) 2005 Elsevier Inc. All rights reserved.

Segat, L., Pontillo, A., Annoni, G., Trabattoni, D., Vergani, C., Clerici, A., et al. (2007). PIN1 promoter polymorphisms are associated with Alzheimer's disease. NEUROBIOLOGY OF AGING, 28(1), 69-74 [10.1016/j.neurobiolaging.2005.11.009].

PIN1 promoter polymorphisms are associated with Alzheimer's disease

ANNONI, GIORGIO;
2007

Abstract

In our study, we analyzed the coding and promoter regions of the PIN I gene in a group of I I I 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 disequilibriurn 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. (c) 2005 Elsevier Inc. All rights reserved.
Articolo in rivista - Articolo scientifico
PIN1; genetic polymorphisms; Alzheimer's disease; genotype-phenotype correlation; neurofibrillary degeneration
English
gen-2007
28
1
69
74
open
Segat, L., Pontillo, A., Annoni, G., Trabattoni, D., Vergani, C., Clerici, A., et al. (2007). PIN1 promoter polymorphisms are associated with Alzheimer's disease. NEUROBIOLOGY OF AGING, 28(1), 69-74 [10.1016/j.neurobiolaging.2005.11.009].
File in questo prodotto:
File Dimensione Formato  
723.pdf

accesso aperto

Dimensione 260.03 kB
Formato Adobe PDF
260.03 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/723
Citazioni
  • Scopus 83
  • ???jsp.display-item.citation.isi??? 79
Social impact