Abstract
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.
Highlights
Most patients develop Alzheimer’s disease (AD) at later age, with a prevalence estimates ranging from 4.4% in persons aged 65 years to 22% at ages 90 and older [2], it is mainly the research performed on the rare autosomal dominant earlyonset form of AD that provided valuable insights into disease pathogenesis
The mean of the Mini Mental State Examination score (MMSE) points was higher in controls than cases
Our results did not confirm the hypothesis, suggested by Zuchner and colleagues that CDKN2A and CDKN2B at 9p21 are implicated in the susceptibility in the lateonset Alzheimer disease (LOAD)
Summary
Alzheimer’s disease (AD) is the most common form of dementia clinically characterized by insidious onset and progressive impairment of memory and other cognitive functions [1], resulting in complete dependency and death of the patient.The key features of AD brains are neuronal and synapse loss, extracellular plaques composed of amyloid-β (Aβ) peptides and intraneuronal neurofibrillary tangles consisting of hyperphosphorylated tau protein. most patients develop AD at later age, with a prevalence estimates ranging from 4.4% in persons aged 65 years to 22% at ages 90 and older [2], it is mainly the research performed on the rare autosomal dominant earlyonset form of AD that provided valuable insights into disease pathogenesis.Several penetrant autosomal dominant mutations have been identified (http://www.molgen.ua.ac.be/ADMutations/), leading to early-onset familial AD within three genes: presenilin 1 (PSEN1) [3], presenilin 2 (PSEN2) [4], and amyloid precursor protein (APP) genes [5].The Apolipoprotein E gene (APOE) was identified as a major risk factor contributing to the pathogenesis of lateonset Alzheimer disease’s (LOAD) [6]. Most patients develop AD at later age, with a prevalence estimates ranging from 4.4% in persons aged 65 years to 22% at ages 90 and older [2], it is mainly the research performed on the rare autosomal dominant earlyonset form of AD that provided valuable insights into disease pathogenesis. Several penetrant autosomal dominant mutations have been identified (http://www.molgen.ua.ac.be/ADMutations/), leading to early-onset familial AD within three genes: presenilin 1 (PSEN1) [3], presenilin 2 (PSEN2) [4], and amyloid precursor protein (APP) genes [5]. The Apolipoprotein E gene (APOE) was identified as a major risk factor contributing to the pathogenesis of lateonset Alzheimer disease’s (LOAD) [6]. The APOE e4 allele is neither necessary nor sufficient for the occurrence of the disease
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