PMID- 18607773
OWN - NLM
STAT- MEDLINE
DCOM- 20090323
LR  - 20211020
IS  - 0895-8696 (Print)
IS  - 0895-8696 (Linking)
VI  - 37
IP  - 1
DP  - 2009 Jan
TI  - The genetics of Alzheimer's disease in Brazil: 10 years of analysis in a unique 
      population.
PG  - 74-9
LID - 10.1007/s12031-008-9124-0 [doi]
AB  - 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 Previously unpublished data of the interleukin-1alpha (IL-1alpha) and 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.
FAU - Oliveira, J R M
AU  - Oliveira JR
AD  - Department of Neuropsychiatry, Federal University of Pernambuco, Recife, PE, 
      Brazil. joao.ricardo@ufpe.br
FAU - Nishimura, A L
AU  - Nishimura AL
FAU - Lemos, R R
AU  - Lemos RR
FAU - Zatz, M
AU  - Zatz M
LA  - eng
PT  - Journal Article
DEP - 20080708
PL  - United States
TA  - J Mol Neurosci
JT  - Journal of molecular neuroscience : MN
JID - 9002991
RN  - 0 (Apolipoproteins E)
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - 0 (Genetic Markers)
RN  - 0 (Interleukin-1alpha)
RN  - 0 (Interleukin-1beta)
RN  - 0 (SLC6A4 protein, human)
RN  - 0 (Serotonin Plasma Membrane Transport Proteins)
RN  - EC 1.4.3.4 (Monoamine Oxidase)
SB  - IM
MH  - Alzheimer Disease/*epidemiology/*genetics
MH  - Apolipoproteins E/genetics
MH  - Brain-Derived Neurotrophic Factor/genetics
MH  - Brazil/epidemiology
MH  - Case-Control Studies
MH  - *Consanguinity
MH  - *Genetic Markers
MH  - Humans
MH  - Interleukin-1alpha/genetics
MH  - Interleukin-1beta/genetics
MH  - Monoamine Oxidase/genetics
MH  - Penetrance
MH  - Polymorphism, Genetic
MH  - Risk Factors
MH  - Serotonin Plasma Membrane Transport Proteins/genetics
EDAT- 2008/07/09 09:00
MHDA- 2009/03/24 09:00
CRDT- 2008/07/09 09:00
PHST- 2008/03/25 00:00 [received]
PHST- 2008/06/11 00:00 [accepted]
PHST- 2008/07/09 09:00 [pubmed]
PHST- 2009/03/24 09:00 [medline]
PHST- 2008/07/09 09:00 [entrez]
AID - 10.1007/s12031-008-9124-0 [doi]
PST - ppublish
SO  - J Mol Neurosci. 2009 Jan;37(1):74-9. doi: 10.1007/s12031-008-9124-0. Epub 2008 
      Jul 8.