Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes

Essentials Deep vein thrombosis (DVT) has a large unknown genetic component. We sequenced coding areas of 734 hemostasis-related genes in 899 DVT patients and 599 controls. Variants in F5, FGA-FGG, CYP4V2-KLKB1-F11, and ABO were associated with DVT risk. Associations in KLKB1 and F5 suggest a more complex genetic architecture than previously thought. Summary: Background Although several genetic risk factors for deep vein thrombosis (DVT) are known, almost all related to hemostasis, a large genetic component remains unexplained. Objectives To identify novel genetic determinants by using targeted DNA sequencing. Patients/Methods We included 899 DVT patients and 599 controls from three case\u2013control studies (DVT-Milan, Multiple Environmental and Genetic Assessment of risk factors for venous thrombosis [MEGA], and the Thrombophilia, Hypercoagulability and Environmental Risks in Venous Thromboembolism [THE-VTE] study) for sequencing of the coding regions of 734 genes involved in hemostasis or related pathways. We performed single-variant association tests for common variants (minor allele frequency [MAF] 65 1%) and gene-based tests for rare variants (MAF 64 1%), accounting for multiple testing by use of the false discovery rate (FDR). Results Sixty-two of 3617 common variants were associated with DVT risk (FDR 0.2). Conclusions We confirmed associations between DVT and common variants in F5,ABO,FGA\u2013FGG, and CYP4V2\u2013KLKB1\u2013F11, and observed secondary signals in F5 and CYP4V2\u2013KLKB1\u2013F11 that warrant replication and fine-mapping in larger studies

CERNAS-IPCB : exemplos de contributos para o sucesso da investigação no IPCB

A UID IPCB-CERNAS é uma das unidades de investigação e desenvolvimento do Instituto Politécnico de Castelo Branco (IPCB). A UID IPCB-CERNAS resultou da adaptação do polo do IPCB do Centro de Recursos Naturais, Ambiente e Sociedade (CERNAS-IPCB), unidade de investigação com financiamento plurianual da FCT, à realidade atual das Unidades de Investigação e Desenvolvimento do IPCB. Além do CERNAS-IPCB, são polos do CERNAS o CERNAS-IPC (Instituto Politécnico de Coimbra) e o CERNAS-IPV (Instituto Politécnico de Viseu). Com três polos de intervenção territorial, o CERNAS é um Centro de Investigação de âmbito regional e a UID IPCB-CERNAS beneficia desta intervenção territorial alargada a toda a Região Centro de Portugal. O CERNAS-IPCB desenvolve a sua atividade em três áreas de investigação: Ciências Agrárias; Ciência e Engenharia Alimentar; Ambiente e Sociedade. Na última avaliação internacional obteve a classificação de Muito Bom. Tem atualmente 24 investigadores, integrados e colaboradores.info:eu-repo/semantics/publishedVersio

Antinociceptive activity of sulfated carbohydrates from the red algae Bryothamnion seaforthii (Turner) Kütz. and B. triquetrum (S.G. Gmel.) M. Howe

We report the antinociceptive activity, determined by the writhing, formalin and hot-plate tests in mice, of crude (F0/60), lectin and carbohydrate fractions isolated by ammonium sulfate precipitation (0 to 60%) from Bryothamnion seaforthii and B. triquetrum, species of red algae. Not only fraction F0/60 but also lectins from both species significantly inhibited acetic acid-induced abdominal contractions after intraperitoneal or oral administrations. In the formalin test, lectins (1 and 5 mg/kg, ip, and 5 to 20 mg/kg, po) inhibited the 1st and 2nd phases (5 and 20 min, respectively), but the effect occurred predominantly on the 2nd phase. The effects of the lectins were totally or partially reversed by naloxone (2 mg/kg, sc) in the 1st and 2nd phases, respectively. Experiments performed with lectins in the absence and presence of avidin (1 mg/kg, ip) and D-mannose (1 mg/kg, ip) showed that avidin did not interfere with the effect of B. seaforthii lectin but partially reversed the effect of B. triquetrum lectin. D-Mannose completely reversed the effects of both species. F0/60 fractions from both algae significantly increased the latency time in response to thermal stimuli, and naloxone reversed antinociception, indicating the involvement of the opioid system in both the peripheral and central effects of the fractions. In the writhing test, the carbohydrate fractions were the most active, inhibiting the contractions by 71 and 79% (B. triquetrum) and by 46 and 69% (B. seaforthii) at doses of 1 and 5 mg/kg, ip, respectively. Sulfated carbohydrate fractions of B. seaforthii and B. triquetrum, containing only about 5% protein as contaminants, are probably responsible for the antinociceptive effects of these red algae

Use of olive mill waste compost and arbuscular mycorrhizal fungi in the fertilization of ryegrass

Organic matter has an unquestionable important role in agriculture productivity due to its capacity to store water and nutrients, increase of the soil biodiversity and immobilize pollutants. Although fresh olive mill waste has phytotoxic properties, its compost can be used as a fertilizer. Mycorrhizal fungi can, potentially, increase crop productivity due to its relation with higher water and nutrients absorption by the roots. This work intended to evaluate the application of mycorrhizal fungi and composted olive mill waste on biomass production of ryegrass. The results showed that the olive mill waste compost could be used as an alternative source of fertiliser for ryegrass, but there must be a simultaneous application of inorganic nitrogen and phosphorus fertilizer. In that case, the application of mycrorrhizal fungi demonstrated to be able to improve ryegrass forage yield.info:eu-repo/semantics/publishedVersio