title: A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease.
abstract: Alzheimer's disease (AD) is considered to be a conformational disease arising from the accumulation of misfolded and unfolded proteins in the endoplasmic reticulum (ER). SEL1L is a component of the ER stress degradation system, which serves to remove unfolded proteins by retrograde degradation using the ubiquitin-proteosome system. In order to identify genetic variations possibly involved in the disease, we analysed the entire SEL1L gene sequence in Italian sporadic AD patients. Here we report on the identification of a new polymorphism within the SEL1L intron 3 (IVS3-88 A>G), which contains potential binding sites for transcription factors involved in ER-induced stress. Our statistical analysis shows a possible role of the novel polymorphism as independent susceptibility factor of Alzheimer's dementia.
authors.affiliation: Department of Sciences and Biomedical Technologies, University of Milan Via F.lli Cervi 93, 20090 Segrate-Milan, Italy.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Saltini
authors.forename: Roberto
authors.initials: R
authors.lastname: Dominici
authors.forename: Carlo
authors.initials: C
authors.lastname: Lovati
authors.forename: Monica
authors.initials: M
authors.lastname: Cattaneo
authors.forename: Stefania
authors.initials: S
authors.lastname: Michelini
authors.forename: Giulia
authors.initials: G
authors.lastname: Malferrari
authors.forename: Andrea
authors.initials: A
authors.lastname: Caprera
authors.forename: Luciano
authors.initials: L
authors.lastname: Milanesi
authors.forename: Dario
authors.initials: D
authors.lastname: Finazzi
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Bertora
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Eliana
authors.initials: E
authors.lastname: Venturelli
authors.forename: Massimo
authors.initials: M
authors.lastname: Musicco
authors.forename: Fulvio
authors.initials: F
authors.lastname: Adorni
authors.forename: Claudio
authors.initials: C
authors.lastname: Mariani
authors.forename: Ida
authors.initials: I
authors.lastname: Biunno
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D008297:Male; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins; C117384:SEL1L protein, human