title: Association study of the BIN1 and IL-6 genes on Alzheimer's disease.
abstract: Genome-wide association study (GWAS) has identified several novel genes associated with the risk of Alzheimer's disease (AD), which is a progressive neurodegenerative disease in elders. However, most of the novel genes have not been validated through replication in separated populations. Among them, the BIN1 gene is involved in endocytosis and intracellular trafficking as well as in the formation of β amyloid plaques and neurofibrillary tangles, which are the main pathological hallmarks of AD. The IL-6 gene has also been frequently associated with AD; however, consistent results have not been found. IL-6, a cytokine from the immune system, is implicated in the pathogenesis of several degenerative diseases. Similar to BIN1, it is suggested that IL-6 is also involved in the formation of β amyloid plaques. In this case-control study, we aimed to investigate whether single nucleotide polymorphisms in the BIN1 (rs744373) and IL-6 (rs1800795) genes are associated with AD. Genotype frequencies were evaluated via PCR-RFLP in 82 late-onset AD patients and 159 elderly healthy controls, who were matched by age and gender. In this study, no association was found for either polymorphism, suggesting that these genes are not implicated in the aetiology of AD in all populations.
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil; Programa de Pós-Graduação em Biotecnologia, Universidade Federal do Espírito Santo, Vitória, ES, Brazil. Electronic address: ligia.ramos.santos@gmail.com.
authors.forename: Lígia
authors.initials: L
authors.lastname: Ramos Dos Santos
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil. Electronic address: belcavello@gmail.com.
authors.forename: Luciano
authors.initials: L
authors.lastname: Belcavello
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil; Programa de Pós-Graduação em Biotecnologia, Universidade Federal do Espírito Santo, Vitória, ES, Brazil. Electronic address: danielacamporez@gmail.com.
authors.forename: Daniela
authors.initials: D
authors.lastname: Camporez
authors.affiliation: Laboratório de Estatística (LESTAT), Centro de Ciências Exatas, Universidade Federal do Espírito Santo, Vitória, ES, Brazil. Electronic address: magalhaes.caere@gmail.com.
authors.forename: Caerê
authors.initials: C
authors.lastname: Iamonde Maciel de Magalhães
authors.affiliation: Laboratório de Estatística (LESTAT), Centro de Ciências Exatas, Universidade Federal do Espírito Santo, Vitória, ES, Brazil. Electronic address: elianazandonade@uol.com.br.
authors.forename: Eliana
authors.initials: E
authors.lastname: Zandonade
authors.affiliation: Hospital da Santa Casa de Misericórdia de Vitória, Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória, Vitória, ES, Brazil. Electronic address: renato.morelato@hotmail.com.
authors.forename: Renato
authors.initials: R
authors.lastname: Lírio Morelato
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil; Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória, Vitória, ES, Brazil. Electronic address: flavia.errera@gmail.com.
authors.forename: Flavia
authors.initials: F
authors.lastname: Imbroisi Valle Errera
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil; Programa de Pós-Graduação em Biotecnologia, Universidade Federal do Espírito Santo, Vitória, ES, Brazil. Electronic address: Iurilouro@yahoo.com.
authors.forename: Iuri
authors.initials: I
authors.lastname: Drumond Louro
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil; Programa de Pós-Graduação em Biologia Vegetal, Universidade Federal do Espírito Santo, Vitória, ES, Brazil. Electronic address: docarmo_batitucci@yahoo.com.br.
authors.forename: Marial
authors.initials: M
authors.lastname: Do Carmo Pimentel Batitucci
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil; Programa de Pós-Graduação em Biotecnologia, Universidade Federal do Espírito Santo, Vitória, ES, Brazil. Electronic address: flapvit@yahoo.com.br.
authors.forename: Flavia
authors.initials: F
authors.lastname: de Paula
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C101410:BIN1 protein, human; D015850:Interleukin-6; D009687:Nuclear Proteins; D025521:Tumor Suppressor Proteins
keywords: Alzheimer’s disease; Brazilian population; Case-control study; −174 G/C IL-6