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Article type: Research Article
Authors: Maletta, Raffaelea; 1 | Smirne, Nicolettaa; 1 | Bernardi, Liviaa; 1 | Anfossi, Mariaa | Gallo, Mauraa | Conidi, Maria Elenaa | Colao, Rosannaa | Puccio, Gianfrancoa | Curcio, Sabrina A.M.a | Laganà, Valentinaa | Frangipane, Francescaa | Cupidi, Chiaraa | Mirabelli, Mariaa | Vasso, Francaa | Torchia, Giusia | Muraca, Maria G.a | Di Lorenzo, Raffaelea | Rose, Giuseppinab | Montesanto, Albertob | Passarino, Giuseppeb | Bruni, Amalia C.a; *
Affiliations: [a] Regional Neurogenetic Centre ASP-CZ, Lamezia Terme (CZ), Italy | [b] Department of Biology, Ecology and Earth Science, University of Calabria, Rende (CS), Italy
Correspondence: [*] Correspondence to: Amalia C. Bruni, MD, Centro Regionale di Neurogenetica, Azienda Sanitaria Provinciale Catanzaro (ASPCZ), 88046 Lamezia Terme (CZ), Italy. Tel.: +39 0968 208080; Fax: +39 0968 208032; E-mail: amaliaceciliabruni@gmail.com.
Note: [1] These authors contributed equally to this work.
Abstract: Background:Several genetic variants playing a key role in cholesterol levels, blood pressure, and vascular dysfunction influence the risk of Alzheimer’s disease (AD) and vascular dementia (VaD). The many meta-analysis studies carried out on large numbers of samples in different populations have not provided clear results to date, because a trans-ethnic shift of risk genotypes in different populations is often observed. Objectives:To determine genotypes allele frequencies of the polymorphisms most frequently identified to be correlated with cardio-cerebrovascular disease and AD in a Southern Italy population and to investigate their possible association with dementia. Methods:The genotype and allele frequencies of 13 cardio-cerebrovascular risk polymorphisms were assessed and their possible association with dementia was investigated in a case-control study, including 221 consecutive unrelated subjects diagnosed with dementia (120 subjects affected by AD, 55 by frontotemporal dementia, and 33 by vascular dementia) and 218 matched controls of Calabrian origin. Results:Carriers of at least one APOE ɛ4 allele resulted to be at higher risk of AD [OR(95% CI) = 2.721(1.477–5.011)] and VaD [OR(95% CI) = 6.205(2.356–16.342)] compared to non-carriers. Individuals with the IV genotype of the CETP polymorphism were more likely to have AD [OR(95% CI) = 2.427(1.364–4.319)] and VaD [OR(95% CI) = 3.649(1.455–9.152)] compared to subjects with the II-VV genotypes. Conclusion:CETP I405V polymorphism is likely a risk factor for AD and VaD in our cohort, independent of APOE ɛ4 status. Unmodifiable genetic risk factors should be taken into account to promote a healthy lifestyle to prevent dementia.
Keywords: Alzheimer’s disease, APOE, cerebrovascular, CETP I405V, dementia, genetic, risk factors, vascular dementia
DOI: 10.3233/JAD-170687
Journal: Journal of Alzheimer's Disease, vol. 61, no. 3, pp. 1179-1187, 2018
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