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  1. Article ; Online: Distribution of CYP2D6 alleles and phenotypes in the Brazilian population.

    Deise C Friedrich / Júlia P Genro / Vinicius A Sortica / Guilherme Suarez-Kurtz / Maria Elizabete de Moraes / Sergio D J Pena / Andrea K Ribeiro dos Santos / Marco A Romano-Silva / Mara H Hutz

    PLoS ONE, Vol 9, Iss 10, p e

    2014  Volume 110691

    Abstract: The CYP2D6 enzyme is one of the most important members of the cytochrome P450 superfamily. This enzyme metabolizes approximately 25% of currently prescribed medications. The CYP2D6 gene presents a high allele heterogeneity that determines great inter- ... ...

    Abstract The CYP2D6 enzyme is one of the most important members of the cytochrome P450 superfamily. This enzyme metabolizes approximately 25% of currently prescribed medications. The CYP2D6 gene presents a high allele heterogeneity that determines great inter-individual variation. The aim of this study was to evaluate the variability of CYP2D6 alleles, genotypes and predicted phenotypes in Brazilians. Eleven single nucleotide polymorphisms and CYP2D6 duplications/multiplications were genotyped by TaqMan assays in 1020 individuals from North, Northeast, South, and Southeast Brazil. Eighteen CYP2D6 alleles were identified in the Brazilian population. The CYP2D6*1 and CYP2D6*2 alleles were the most frequent and widely distributed in different geographical regions of Brazil. The highest number of CYPD6 alleles observed was six and the frequency of individuals with more than two copies ranged from 6.3% (in Southern Brazil) to 10.2% (Northern Brazil). The analysis of molecular variance showed that CYP2D6 is homogeneously distributed across different Brazilian regions and most of the differences can be attributed to inter-individual differences. The most frequent predicted metabolic status was EM (83.5%). Overall 2.5% and 3.7% of Brazilians were PMs and UMs respectively. Genomic ancestry proportions differ only in the prevalence of intermediate metabolizers. The IM predicted phenotype is associated with a higher proportion of African ancestry and a lower proportion of European ancestry in Brazilians. PM and UM classes did not vary among regions and/or ancestry proportions therefore unique CYP2D6 testing guidelines for Brazilians are possible and could potentially avoid ineffective or adverse events outcomes due to drug prescriptions.
    Keywords Medicine ; R ; Science ; Q
    Subject code 590
    Language English
    Publishing date 2014-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Caracterização antigênica e molecular de oito amostras do vírus da doença de Aujeszky isoladas no estado do Rio Grande do Sul em 2003 Antigenic and molecular characterization of eight samples of Aujeszky's disease virus isolated in the state of Rio Grande do Sul, Brazil, in 2003

    Alessandra D'Ávila da Silva / Vinícius A. Sortica / Alexandre C. Braga / Fernando R. Spilki / Ana C. Franco / Paulo A. Esteves / Frans Rijsewijk / Júlio César A. Rosa / Helena Beatriz C.R. Batista / Anna P. Oliveira / Paulo M. Roehe

    Pesquisa Veterinária Brasileira, Vol 25, Iss 1, Pp 21-

    2005  Volume 24

    Abstract: A doença de Aujeszky ou pseudoraiva (DA), causada pelo vírus da pseudoraiva (PRV) é a maior preocupação na produção de suínos. No estado do Rio Grande do Sul, Brasil, a DA foi somente detectada em 1954, em bovino. Em 2003, ocorreram dois surtos de ... ...

    Abstract A doença de Aujeszky ou pseudoraiva (DA), causada pelo vírus da pseudoraiva (PRV) é a maior preocupação na produção de suínos. No estado do Rio Grande do Sul, Brasil, a DA foi somente detectada em 1954, em bovino. Em 2003, ocorreram dois surtos de encefalite em granjas na região norte do estado, fronteira com o estado de Santa Catarina. O vírus da doença de Aujeszky (VDA) foi isolado a partir de animais coletados em oito granjas distintas da região e submetido a análises antigênicas e moleculares. As amostras de VDA isoladas foram comparadas com as amostras padrão NIA-3 e NP. A caracterização antigênica dos mesmos foi realizada com testes de imunoperoxidase frente a um painel de anticorpos mono-clonais (Mabs) preparado contra epitopos de glicoproteinas virais (gB, gC, gD e gE). A caracterização genômica foi realizada através da análise restrição enzimática (REA) sobre o genoma total das amostras, com a enzima de restrição (REA) Bam HI. O perfil antigênico das oito amostras isoladas no Rio Grande do Sul, bem como os apresentados pelas amostras padrão NIA-3 e NP, foram similares. A REA revelou que todos as oito amostras do Rio Grande do Sul apresentaram um arranjo genômico do tipo II, genótipo frequentemente encontrado em surtos prévios de DA em outros estados do Brasil. Os resultados aqui obtidos indicam que as oito amostras isoladas no Rio Grande do Sul são similares. Pseudorabies or Aujeszky's disease (AD), caused by pseudorabies virus (PRV) is a major concern in swine production. In the state of Rio Grande do Sul, Brazil, AD was only detected in 1954, in cattle. In 2003 two outbreaks of encephalitis occurred on the northern region of the state, close to the border with the state of Santa Catarina. Pseudorabies virus (PRV) was isolated from distinct farms within the region and subjected to antigenic and genomic analyses. These isolates were compared with prototype strains NIA-3 and NP. Antigenic characterization with a panel of monoclonal antibodies (Mabs) directed to viral glycoproteins (gB, gC, gD and gE,) was performed by an imunoperoxidase monolayer assay (IPMA) on infected cell monolayers. Genomic characterization was carried out by restriction enzyme analysis (REA) of the whole DNA viral genome with Bam HI. The antigenic profile of the eight isolates from Rio Grande do Sul as well as strains NIA-3 and NP were similar. REA analysis revealed that all isolates from Rio Grande do Sul displayed a genomic type II arrangement, a genotype often found in other outbreaks of AD previously reported in other Brazilian states. The results obtained suggest that the eight isolates examined here were similar.
    Keywords Doença de Aujesky ; epidemiologia ; Aujeszky's disease ; epidemiology ; Veterinary medicine ; SF600-1100
    Language English
    Publishing date 2005-03-01T00:00:00Z
    Publisher Colégio Brasileiro de Patologia Animal (CBPA)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected.

    Sérgio D J Pena / Giuliano Di Pietro / Mateus Fuchshuber-Moraes / Julia Pasqualini Genro / Mara H Hutz / Fernanda de Souza Gomes Kehdy / Fabiana Kohlrausch / Luiz Alexandre Viana Magno / Raquel Carvalho Montenegro / Manoel Odorico Moraes / Maria Elisabete Amaral de Moraes / Milene Raiol de Moraes / Elida B Ojopi / Jamila A Perini / Clarice Racciopi / Andrea Kely Campos Ribeiro-Dos-Santos / Fabrício Rios-Santos / Marco A Romano-Silva / Vinicius A Sortica /
    Guilherme Suarez-Kurtz

    PLoS ONE, Vol 6, Iss 2, p e

    2011  Volume 17063

    Abstract: Based on pre-DNA racial/color methodology, clinical and pharmacological trials have traditionally considered the different geographical regions of Brazil as being very heterogeneous. We wished to ascertain how such diversity of regional color categories ... ...

    Abstract Based on pre-DNA racial/color methodology, clinical and pharmacological trials have traditionally considered the different geographical regions of Brazil as being very heterogeneous. We wished to ascertain how such diversity of regional color categories correlated with ancestry. Using a panel of 40 validated ancestry-informative insertion-deletion DNA polymorphisms we estimated individually the European, African and Amerindian ancestry components of 934 self-categorized White, Brown or Black Brazilians from the four most populous regions of the Country. We unraveled great ancestral diversity between and within the different regions. Especially, color categories in the northern part of Brazil diverged significantly in their ancestry proportions from their counterparts in the southern part of the Country, indicating that diverse regional semantics were being used in the self-classification as White, Brown or Black. To circumvent these regional subjective differences in color perception, we estimated the general ancestry proportions of each of the four regions in a form independent of color considerations. For that, we multiplied the proportions of a given ancestry in a given color category by the official census information about the proportion of that color category in the specific region, to arrive at a "total ancestry" estimate. Once such a calculation was performed, there emerged a much higher level of uniformity than previously expected. In all regions studied, the European ancestry was predominant, with proportions ranging from 60.6% in the Northeast to 77.7% in the South. We propose that the immigration of six million Europeans to Brazil in the 19th and 20th centuries--a phenomenon described and intended as the "whitening of Brazil"--is in large part responsible for dissipating previous ancestry dissimilarities that reflected region-specific population histories. These findings, of both clinical and sociological importance for Brazil, should also be relevant to other countries with ancestrally admixed ...
    Keywords Medicine ; R ; Science ; Q
    Subject code 320
    Language English
    Publishing date 2011-02-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: ACE2 diversity in placental mammals reveals the evolutionary strategy of SARS-CoV-2

    Bibiana S.O. Fam / Pedro Vargas-Pinilla / Carlos Eduardo G. Amorim / Vinicius A. Sortica / Maria Cátira Bortolini

    Genetics and Molecular Biology, Vol 43, Iss 2

    Abstract: Abstract The recent emergence of SARS-CoV-2 is responsible for the current pandemic of COVID-19, which uses the human membrane protein ACE2 as a gateway to host-cell infection. We performed a comparative genomic analysis of 70 ACE2 placental mammal ... ...

    Abstract Abstract The recent emergence of SARS-CoV-2 is responsible for the current pandemic of COVID-19, which uses the human membrane protein ACE2 as a gateway to host-cell infection. We performed a comparative genomic analysis of 70 ACE2 placental mammal orthologues to identify variations and contribute to the understanding of evolutionary dynamics behind this successful adaptation to infect humans. Our results reveal that 4% of the ACE2 sites are under positive selection, all located in the catalytic domain, suggesting possibly taxon-specific adaptations related to the ACE2 function, such as cardiovascular physiology. Considering all variable sites, we selected 30 of them located at the critical ACE2 binding sites to the SARS-CoV-like viruses for analysis in more detail. Our results reveal a relatively high diversity of ACE2 between placental mammal species, while showing no polymorphism within human populations, at least considering the 30 inter-species variable sites. A perfect scenario for natural selection favored this opportunistic new coronavirus in its trajectory of infecting humans. We suggest that SARS-CoV-2 became a specialist coronavirus for human hosts. Differences in the rate of infection and mortality could be related to the innate immune responses, other unknown genetic factors, as well as non-biological factors.
    Keywords ace2 ; placental mammals ; sars-cov-2 ; covid-19 ; inter and intra-species diversity ; Genetics ; QH426-470 ; covid19
    Subject code 572
    Language English
    Publisher Sociedade Brasileira de Genética
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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