title: The genetics of Alzheimer's disease in Brazil: 10 years of analysis in a unique population.
abstract: Alzheimer's Disease (AD) is the most common type of dementia among the elderly, with devastating consequences for the patient, their relatives, and caregivers. More than 300 genetic polymorphisms have been involved with AD, demonstrating that this condition is polygenic and with a complex pattern of inheritance. This paper aims to report and compare the results of AD genetics studies in case-control and familial analysis performed in Brazil since our first publication, 10 years ago. They include the following genes/markers: Apolipoprotein E (APOE), 5-hidroxytryptamine transporter length polymorphic region (5-HTTLPR), brain-derived neurotrophin factor (BDNF), monoamine oxidase A (MAO-A), and two simple-sequence tandem repeat polymorphisms (DXS1047 and D10S1423). Previously unpublished data of the interleukin-1alpha (IL-1alpha) and interleukin-1 beta (IL-1beta) genes are reported here briefly. Results from others Brazilian studies with AD patients are also reported at this short review. Four local families studied with various markers at the chromosome 21, 19, 14, and 1 are briefly reported for the first time. The importance of studying DNA samples from Brazil is highlighted because of the uniqueness of its population, which presents both intense ethnical miscegenation, mainly at the east coast, but also clusters with high inbreeding rates in rural areas at the countryside. We discuss the current stage of extending these studies using high-throughput methods of large-scale genotyping, such as single nucleotide polymorphism microarrays, associated with bioinformatics tools that allow the analysis of such extensive number of genetics variables, with different levels of penetrance. There is still a long way between the huge amount of data gathered so far and the actual application toward the full understanding of AD, but the final goal is to develop precise tools for diagnosis and prognosis, creating new strategies for better treatments based on genetic profile.
authors.affiliation: Department of Neuropsychiatry, Federal University of Pernambuco, Recife, PE, Brazil. joao.ricardo@ufpe.br
authors.forename: J R M
authors.initials: JR
authors.lastname: Oliveira
authors.forename: A L
authors.initials: AL
authors.lastname: Nishimura
authors.forename: R R
authors.initials: RR
authors.lastname: Lemos
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D003241:Consanguinity; D005819:Genetic Markers; D006801:Humans; D053582:Interleukin-1alpha / Q000235:genetics; D053583:Interleukin-1beta / Q000235:genetics; D008995:Monoamine Oxidase / Q000235:genetics; D019683:Penetrance; D011110:Polymorphism, Genetic; D012307:Risk Factors; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics
chemical_list: D001057:Apolipoproteins E; D019208:Brain-Derived Neurotrophic Factor; D005819:Genetic Markers; D053582:Interleukin-1alpha; D053583:Interleukin-1beta; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D008995:Monoamine Oxidase