Document Detail


Lack of association between Alzheimer's disease and Gln-Arg 192 Q/R polymorphism of the PON-1 gene in an Italian population.
MedLine Citation:
PMID:  12566597     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Alzheimer's disease (AD) is characterized by deposition of oxidized low-density lipoprotein (LDL) forming the senile plaque and by structural changes and cell death in acetylcholine-producing neurons. Paraoxonase-1 (PON-1) is a secreted protein primarily associated with high-density lipoproteins (HDL) and participates in the prevention of LDL oxidation. PON-1 is also an arylesterase that hydrolyzes paraoxon, an active toxic metabolite of parathion, thus providing protection against organophosphate poisoning and metabolization of environmental neurotoxins that might be responsible for neurodegeneration with aging. Serum levels of PON-1 are genetically determined and strongly influenced by a common polymorphism on the position 192 of the PON-1 gene. The aim of this study was to evaluate whether the polymorphism of the PON-1 gene is associated with AD. We studied 124 Italian subjects affected by probable AD and 135 age- and sex-matched controls. The distribution of PON-1 genotypes was 64 QQ, 46 QR, 14 RR in the AD patients and 57 QQ, 59 QR, 19 RR in the control subjects. No statistically significant difference was found between the two groups in our population (p = 0.130 for homozygous QQ, p = 0.279 for heterozygous QR, and p = 0.502 for homozygous RR). These results suggest that the human Gln-Arg 192 Q/R polymorphism of the PON-1 gene is not associated with AD in an Italian population.
Authors:
Roberto Pola; Eleonora Gaetani; Andrea Flex; Laura Gerardino; Francesco Aloi; Roberto Flore; Michele Serricchio; Paolo Pola; Roberto Bernabei
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Dementia and geriatric cognitive disorders     Volume:  15     ISSN:  1420-8008     ISO Abbreviation:  Dement Geriatr Cogn Disord     Publication Date:  2003  
Date Detail:
Created Date:  2003-02-04     Completed Date:  2003-03-28     Revised Date:  2008-03-24    
Medline Journal Info:
Nlm Unique ID:  9705200     Medline TA:  Dement Geriatr Cogn Disord     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  88-91     Citation Subset:  IM    
Copyright Information:
Copyright 2003 S. Karger AG, Basel
Affiliation:
Laboratory of Vascular Biology and Genetics, A. Gemelli University Hospital, Università Cattolica del Sacro Cuore School of Medicine, Rome, Italy. rob_pola@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Aged
Alzheimer Disease / blood,  epidemiology,  genetics*
Amino Acid Substitution
Arginine / genetics*
Aryldialkylphosphatase
Case-Control Studies
Esterases / genetics*
Female
Genetic Predisposition to Disease
Glycine / genetics*
Humans
Italy / epidemiology
Male
Polymorphism, Genetic*
Chemical
Reg. No./Substance:
56-40-6/Glycine; 74-79-3/Arginine; EC 3.1.-/Esterases; EC 3.1.8.1/Aryldialkylphosphatase; EC 3.1.8.1/PON1 protein, human

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