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Int J Alzheimers Dis. 2011 Apr 14;2011:374631. doi: 10.4061/2011/374631.

Association Study of Genetic Variants in CDKN2A/CDKN2B Genes/Loci with Late-Onset Alzheimer's Disease.

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  • 1Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni, 85 - 50134 Florence, Italy.


Alzheimer's disease (AD) is the most common form of dementia clinically characterized by progressive impairment of memory and other cognitive functions. Many genetic researches in AD identified one common genetic variant (ε4) in Apolipoprotein E (APOE) gene as a risk factor for the disease. Two independent genome-wide studies demonstrated a new locus on chromosome 9p21.3 implicated in Late-Onset Alzheimer's Disease (LOAD) susceptibility in Caucasians. In the present study, we investigated the role of three SNP's in the CDKN2A gene (rs15515, rs3731246, and rs3731211) and one in the CDKN2B gene (rs598664) located in 9p21.3 using an association case-control study carried out in a group of Caucasian subjects including 238 LOAD cases and 250 controls. The role of CDKN2A and CDKN2B genetic variants in AD is not confirmed in our LOAD patients, and further studies are needed to elucidate the role of these genes in the susceptibility of AD.

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