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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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| Trancozo,Maira; Moraes,Marcos V.D.; Silva,Dalila A.; Soares,Jéssica A.M.; Barbirato,Clara; Almeida,Márcio G.; Santos,Lígia R.; Rebouças,Maria R. G. O.; Akel Jr,Akel N.; Sipolatti,Valentim; Nunes,Vanda R. R.; Errera,Flavia I. V.; Aguena,Meire; Passos-Bueno,Maria R.; Paula,Flavia de. |
| Abstract Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mutated genes in OI patients can help to improve molecular strategies for diagnosis of the disease. In order to characterize the mutation profile of OI in Brazilian patients, we analyzed 30 unrelated patients through SSCP screening, NGS gene panel, and/or Sanger sequencing for the 11 most frequently mutated genes in the database of mutations, including COL1A1, COL1A2, P3H1, CRTAP, PPIB, SERPINH1,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: NGS gene panel; COL1A1/COL1A2 genes; FKBP10 gene; P3H1 gene; IFITM5 gene. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300344 |
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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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