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| de-Andrade,F.M.; Larrandaburu,M.; Callegari-Jacques,S.M.; Gastaldo,G.; Hutz,M.H.. |
| Apolipoprotein E (protein: apo E; gene: APOE) plays an important role in the multifactorial etiology of both Alzheimer's disease (AD) and lipid level concentrations. The polymerase chain reaction (PCR) was used to investigate the APOE gene polymorphism in 446 unrelated Caucasians, among them 23 AD patients, and 100 Afro-Brazilians living in Porto Alegre, Brazil. The frequencies of the APOE*2, APOE*3 and APOE*4 alleles were 0.075, 0.810 and 0.115 in Caucasians and 0.075, 0.700 and 0.225 in Afro-Brazilians, respectively (c2 = 8.72, P = 0.013). A highly significant association was observed between the APOE*4 allele and AD in this population-based sample. The APOE*4 frequency in AD patients (39%) was about four times higher than in the general Caucasian... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Polymorphism; APOE; Lipoproteins; Apoprotein; Alzheimer's disease. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000000500007 |
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| Errera,F.I.V.; Silva,M.E.R.; Yeh,E.; Maranduba,C.M.C.; Folco,B.; Takahashi,W.; Pereira,A.C.; Krieger,J.E.; Passos-Bueno,M.R.. |
| Diabetes mellitus (DM) is a highly prevalent complex genetic disorder. There has been a worldwide effort in the identification of susceptibility genes for DM and its complications, and the 5-10-methylenetetrahydrofolate reductase (MTHFR) and apolipoprotein-E (APOE) genes have been considered good candidate susceptibility genes to this condition. The objectives of the present study were to determine if the 677T MTHFR and epsilon2/epsilon3/epsilon4 APOE alleles are risk factors for DM and for severity of diabetic retinopathy (DR). A total of 248 individuals were studied: 107 healthy individuals and 141 diabetic patients (46 with type 1 diabetes and 95 with type 2 diabetes), who also had DR (81 with non-proliferative DR and 60 with proliferative DR). The... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: APOE; MTHFR; Polymorphisms; Diabetes; Diabetic retinopathy. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000700005 |
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| Salazar,Claudia; Valdivia,Gonzalo; Ardiles,Álvaro O.; Ewer,John; Palacios,Adrian G.. |
| The use of transgenic models for the study of neurodegenerative diseases has made valuable contributions to the field. However, some important limitations, including protein overexpression and general systemic compensation for the missing genes, has caused researchers to seek natural models that show the main biomarkers of neurodegenerative diseases during aging. Here we review some of these models-most of them rodents, focusing especially on the genetic variations in biomarkers for Alzheimer diseases, in order to explain their relationships with variants associated with the occurrence of the disease in humans. |
| Tipo: Journal article |
Palavras-chave: Degus; Genome; APP; APOE. |
| Ano: 2016 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100014 |
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| Vendramini,Alex Augusto; Lábio,Roger Willian de; Rasmussen,Lucas Trevizani; Reis,Nathali Mattiuzo dos; Minett,Thais; Bertolucci,Paulo Henrique Ferreira; Pinhel,Marcela Augusta de Souza; Souza,Dorotéia Rossi Silva; Mazzotti,Diego Robles; Smith,Marília de Arruda Cardoso; Payão,Spencer Luiz Marques. |
| An inflammatory process has been involved in numerous neurodegenerative disorders such as Parkinson's disease, stroke and Alzheimer's disease (AD). In AD, the inflammatory response is mainly located in the vicinity of amyloid plaques. Cytokines, such as interleukin-8 (IL-8) and interleukin-1α (IL-1α), have been clearly involved in this inflammatory process. Polymorphisms of several interleukin genes have been correlated to the risk of developing AD. The present study investigated the association of AD with polymorphisms IL-8 -251T > A (rs4073) and IL-1α-889C > T (rs1800587) and the interactive effect of both, adjusted by the Apolipoprotein E genotype. 199 blood samples from patients with AD, 146 healthy elderly controls and 95 healthy young... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: IL-8; IL-1α; Alzheimer's Disease; APOE; Inflammatory response. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100001 |
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| Santos,Lígia Ramos dos; Almeida,Jucimara Ferreira Figueiredo; Pimassoni,Lúcia Helena Sagrillo; Morelato,Renato Lírio; Paula,Flavia de. |
| Abstract Genome-wide associations studies (GWAS) are detecting new variants associated with late-onset of Alzheimer’s disease (LOAD), a multifactorial neurodegenerative disorder. The variants rs744373 BIN1, rs11136000 CLU and rs3764650 ABCA7 uncovered by GWAS led to different AD pathways, such as metabolism, trafficking and endocytosis of lipids and inflammation. However, most of the association studies did not replicate these variants with significance. This could be due to a small power effect evident when these variants are tested independently with LOAD. Therefore, we aimed to investigate whether the combination of different variants would additively modify the risk of association with LOAD that is observed in GWAS. We performed an association study... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: GWAS variants; APOE; CLU; BIN1; ABCA7. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100113 |
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