title: Association of MTHFR and PICALM polymorphisms with Alzheimer's disease.
abstract: Alzheimer's disease (AD) is a complex neurodegenerative disorder and the primary cause of dementia in the elderly and causes a decrease in cognition, functionality, and behaviour. Genetic risk factors play an important role in the pathogenesis of AD. In this case-control study, we aimed to investigate whether single nucleotide polymorphisms in MTHFR (rs1801133), PICALM (3851719), CLU (rs11136000), and CR1 (rs6701713) are associated with AD. Genotype frequencies were evaluated in 82 late-onset AD patients and 161 elderly healthy controls matched by age and gender. We detected a significant association of the MTHFR rs1801133 and PICALM rs3851179 polymorphisms with AD. The results of this study support the hypothesis that several genes are involved in the aetiology of AD.
authors.affiliation: Department of Biological Sciences, Human Molecular Genetics Center, Federal University of Espírito Santo, Vitória, ES, Brazil, belcavello@gmail.com.
authors.forename: Luciano
authors.initials: L
authors.lastname: Belcavello
authors.forename: Daniela
authors.initials: D
authors.lastname: Camporez
authors.forename: Leila D
authors.initials: LD
authors.lastname: Almeida
authors.forename: Renato L
authors.initials: RL
authors.lastname: Morelato
authors.forename: Maria C P
authors.initials: MC
authors.lastname: Batitucci
authors.forename: Flavia
authors.initials: F
authors.lastname: de Paula
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D034041:Monomeric Clathrin Assembly Proteins / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide
chemical_list: D034041:Monomeric Clathrin Assembly Proteins; C439003:PICALM protein, human; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)