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Int J Mol Epidemiol Genet 2010;1(2):193-200.

Original Article
APOE e2 and e4 influence the susceptibility for Alzheimer’s disease but not
other dementias

Carlo Lovati, Daniela Galimberti, Diego Albani, Pierluigi Bertora, Eliana Venturelli, Giuliana Cislaghi, Ilaria Guidi, Chiara
Fenoglio, Francesca Cortini, Francesca Clerici, Dario Finazzi, Gianluigi Forloni, Elio Scarpini, Claudio Mariani

Department of Neurology, University of Milan, Ospedale L. Sacco, Milan, Italy; Department of Neurological Sciences, "Dino
Ferrari" Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Milan, Italy; Department of Neuroscience, Istituto di
Ricerche Farmacologiche “Mario Negri”, Milan, Italy; Section of Biochemistry, Faculty of Medicine, University of Brescia and III
Laboratorio Analisi Chimico Cliniche, Spedali Civili di Brescia, Brescia, Italy.

Received February 26, 2010, accepted March 29, 2010, available online April 5, 2010

Abstract: Apolipoprotein E (APOE) genotype was determined in a population of patients with dementia, including 735
patients with Alzheimer’s disease (AD), 75 with Frontotemporal Lobar Degeneration (FTLD), 97 with Vascular Dementia
(VaD) and 40 with Lewy Body Dementia (LBD), as well as in 506 age- and gender-matched controls (CON). APOE
e2 allele frequency was lower in patients with AD (2.8%) than in CON (6.4%, P≤0.001, OR: 0.41). Similar results were
obtained comparing AD with FTLD (6.7%, P≤0.01, OR: 0.37), at difference from VaD (5.6%, P>0.05) or LBD (5.0%,
P>0.05). The frequency of the APOE e4 allele was increased in patients with AD (25.1%) as compared with CON
(8.2%, P≤0.001, OR: 4.24), FTLD (11.3%, P≤0.001, OR: 2.67), VaD (11.8%, P≤0.001, OR: 3.02), or LBD (13.8%,
P=0.048, OR: 2.07). The frequency of the e4/e4 genotype was increased in AD patients compared with controls (6.3
versus 0.8%, P≤0.001, OR: 8.38). The presence of the e2 allele is a protective factor for AD, whereas the e4 allele
acts as a risk factor for the disease. Both alleles do not influence the susceptibility to FTLD, LBD and VaD. (IJMEG1002005).

Key words: Apolipoprotein E (APOE), Alzheimer’s disease (AD), Frontotemporal Lobar Degeneraton (FTLD), Vascular
dementia (VaD), Lewy body dementia (LBD), risk factor

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Address all correspondence to:
Diego Albani, PhD
Department of Neuroscience
Istituto di Ricerche Farmacologiche “Mario Negri”, Milan, Italy.
Tel: ++ 39.2.39014594, Fax: ++ 39.2.3546277,
Carlo Lovati, PhD,
Dept. of Neurology, University of Milan
Ospedale L. Sacco, Milan, Italy;
Daniela Galimberti, PhD
Dept. of Neurological Sciences
"Dino Ferrari" Center, University of Milan,
IRCCS Ospedale Maggiore Policlinico
Milan, Italy