Apolipoprotein E Pittsburgh variant is not associated with the risk of late-onset Alzheimer's disease in a Spanish population.
Am J Med Genet B Neuropsychiatr Genet
; 120B(1): 121-4, 2003 Jul 01.
Article
in En
| MEDLINE
| ID: mdl-12815750
ABSTRACT
The objective of this study was to assess whether the APOE(Pittsburgh) variant (APOE*4P) is associated to Alzheimer's disease (AD) in a population from Madrid (Spain). APOE*4P variant is caused by an exonic mutation which results in the substitution of proline-28 for leucine-28, only present in APOE*4 alleles. A study in a US population associated this APOE variant with an increased risk for AD, about five times higher than the risk attributed to APOE*4 carriers overall. One hundred and seventeen cases of late-onset AD and 121 matched control subjects from Madrid (Spain) were included. We studied the APOE polymorphism and the APOE*4P occurrence, by PCR and restriction analysis, and plasma lipids levels using standard protocols. As expected, APOE*4 was significantly overrepresented in AD cases. The APOE*4P mutation was observed in heterozygous state in four subjects, two AD (1.71%) and two controls (1.65%). APOE*4P did not confer higher risk for AD, globally (odds ratio 0.14; 95% confidence interval (CI) 0.02-1.12) or respect to APOE*4 carriers (odds ratio 0.14; 95% CI 0.02-1.24). There were no differences in plasma lipids levels among genotype groups. The mutation frequency in controls was higher in our sample than in the US one (1.65 and 0.18%, respectively; Fisher test P = 0.049). Our results suggest that this variant is not so uncommon in our population and is not directly related to AD, contrary to what has been proposed for other populations.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Apolipoproteins E
/
Genetic Variation
/
Alzheimer Disease
Type of study:
Etiology_studies
Limits:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Europa
Language:
En
Journal:
Am J Med Genet B Neuropsychiatr Genet
Journal subject:
GENETICA MEDICA
/
NEUROLOGIA
/
PSIQUIATRIA
Year:
2003
Document type:
Article
Affiliation country:
Spain