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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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Silva-Sena,Geralda Gillian; Camporez,Daniela; Santos,Lígia Ramos dos; Silva,Aline Sesana da; Sagrillo Pimassoni,Lúcia Helena; Tieppo,Alessandra; Pimentel Batitucci,Maria do Carmo; Morelato,Renato Lírio; Paula,Flavia de. |
Abstract Human longevity is a polygenic and multifactorial trait. Pathways related to lifespan are complex and involve molecular, cellular, and environmental processes. In this analytical observational study, we evaluated the relationship between environment factors, oxidative stress status, DNA integrity level, and the association of FOXO3 (rs2802292), SOD2 (rs4880), APOE (rs429358 and rs7412), and SIRT1 (rs2273773) polymorphisms with longevity in oldest-old individuals from southeastern Brazil. We found an association between the FOXO3 GG genotype and gender. While lifestyle, anthropometric, and biochemical characteristics showed significant results, DNA damage and oxidative stress were not related to lifespan. We found that long-lived individuals with... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lifespan; SNPs; Environmental factors; Oxidative stress; Genomic damage. |
Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300386 |
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