title: Association of interleukin 1β polymorphisms and haplotypes with Alzheimer's disease.
abstract: Our study aimed to associate IL-1β and IL-1RN polymorphisms with AD disease in comparison with elderly control group from São Paulo - Brazil. We genotyped 199 Alzheimer's disease (AD) patients, 165 elderly control and 122 young control samples, concerning VNTR (IL-1RN) and -511C>T and -31T>C (IL-1β) polymorphisms. Our findings revealed that -511C/-31T/2-repetitions VNTR haplotype had a protective effect for AD when compared to EC (p=0.005), whereas -511C/-31C/1-repetition VNTR haplotype was associated as a risk factor for AD (p=0.021). Taken together, we may suggest that there is a relevant role of IL-1 genes cluster in AD pathogenesis in this Brazilian population.
authors.affiliation: Universidade do Sagrado Coração, USC, Bauru, São Paulo, Brazil. slmpayao@famema.br
authors.forename: Spencer Luiz Marques
authors.initials: SL
authors.lastname: Payão
authors.forename: Gisela Moraes
authors.initials: GM
authors.lastname: Gonçalves
authors.forename: Roger William
authors.initials: RW
authors.lastname: de Labio
authors.forename: Lie
authors.initials: L
authors.lastname: Horiguchi
authors.forename: Igor
authors.initials: I
authors.lastname: Mizumoto
authors.forename: Lucas Trevizani
authors.initials: LT
authors.lastname: Rasmussen
authors.forename: Marcela Augusta
authors.initials: MA
authors.lastname: de Souza Pinhel
authors.forename: Dorotéia Rossi
authors.initials: DR
authors.lastname: Silva Souza
authors.forename: Marcelo Dib
authors.initials: MD
authors.lastname: Bechara
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Chen
authors.forename: Diego Robles
authors.initials: DR
authors.lastname: Mazzotti
authors.forename: Paulo Henrique
authors.initials: PH
authors.lastname: Ferreira Bertolucci
authors.forename: Marília de Arruda
authors.initials: Mde A
authors.lastname: Cardoso Smith
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D001938:Brazil; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000235:genetics*; D053583:Interleukin-1beta / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D053583:Interleukin-1beta