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Apolipoprotein E Pittsburgh variant is not associated with the risk of late‐onset Alzheimer's disease in a Spanish population
Author(s) -
Baron M.,
JimenezEscrig A.,
Orensanz L.,
Simon J.,
PerezTur J.
Publication year - 2003
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.20028
Subject(s) - apolipoprotein e , odds ratio , medicine , population , allele , confidence interval , genotype , alzheimer's disease , endocrinology , genetics , gastroenterology , biology , disease , environmental health , gene
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. © 2003 Wiley‐Liss, Inc.