Association of MTHFR and PICALM polymorphisms with Alzheimer's disease
Luciano Belcavello1, Daniela Camporez, Leila D Almeida
1Department of Biological Sciences, Human Molecular Genetics Center, Federal University of Espírito Santo, Vitória, ES, Brazil, belcavello@gmail.com.
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.
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