title: The nACHR4 594C/T polymorphism in Alzheimer disease.
abstract: Alzheimer disease (AD) is the most common form of dementia with complex etiology and multifactorial origin. Although several neurochemical deficits have been described in AD patients, explanation of the nature of the cognitive disturbance is focused on the "cholinergic hypothesis." The neuronal nicotinic acetylcholine receptor (neuronal nAChR) belongs to the superfamily of ionic channel activated by ligand. This paper presents a population-based population association study, testing the hypothesis that variants of the nAChR gene confer genetic susceptibility to AD. The authors analyzed two cohorts constituted by 60 controls and 80 AD patients in which significant increase of 594T polymorphism in patients affected by AD versus controls was found. However, further studies are necessary to confirm this polymorphism trend and to establish the polymorphism functionality and its correlation with behavioral and cognitive deficit.
authors.affiliation: Immunosenescence Unit, Department of Pathobiology and Biomedical Methodology, University of Palermo, Palermo, Italy.
authors.forename: Sonya
authors.initials: S
authors.lastname: Vasto
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Candore
authors.forename: Alessandra
authors.initials: A
authors.lastname: Aquino
authors.forename: Matteo
authors.initials: M
authors.lastname: Bulati
authors.forename: Carmela Rita
authors.initials: CR
authors.lastname: Balistreri
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Grimaldi
authors.forename: Vito
authors.initials: V
authors.lastname: Ditta
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Colonna-Romano
authors.forename: Domenico
authors.initials: D
authors.lastname: Lio
authors.forename: Salvo
authors.initials: S
authors.lastname: Vitello
authors.forename: Rainer
authors.initials: R
authors.lastname: Barbieri
authors.forename: Calogero
authors.initials: C
authors.lastname: Caruso
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011978:Receptors, Nicotinic / Q000235:genetics*
chemical_list: D011978:Receptors, Nicotinic