Glutathione S-transferase M1 (GSTM1) polymorphism in two Brazilian populations

A distribuição das freqüências fenotípicas do gene GSTM1 de duas amostras brasileiras, compostas de doadores sanguíneos de ambos os sexos com idade entre 18 e 61 anos, foi estudada. A primeira amostra é composta de 658 indivíduos provenientes do Rio de Janeiro e a segunda de 179 indivíduos de Brasília. Os fenótipos da GSTM1 foram determinados utilizando-se a técnica da reação em cadeia da polimerase e subsequente digestão com a enzima de restrição HaeII. As freqüências observadas para o fenótipo GSTM1 nulo foram de 46,4% e 48,6% para as amostras do Rio de Janeiro e Brasília, respectivamente. Os resultados também mostram que a distribuição fenotípica da GSTM1 não está em equilíbrio de Hardy-Weinberg para ambas as amostras: χ2 1 = 11,49 (P < 0,001) para o Rio de Janeiro e χ2 1 = 6,77 (P < 0,01) para Brasília. Este desequilíbrio pode ser atribuído a fatores como seleção, erros na determinação fenotípica ou panmixia ainda incompleta da população brasileira, cujos componentes raciais são caucasóides, africanos e índios.The distribution of GSTM1 phenotype frequencies was studied in two Brazilian samples composed of healthy and unrelated blood donors of both sexes ranging in age from 18 to 61 years. The first sample consisted of 658 individuals from Rio de Janeiro, and the second included 179 individuals from Brasília. The GSTM1 phenotypes were detected using PCR reactions and subsequent digestion by the restriction enzyme HaeII. The GSTM1 null phenotype frequency was 46% and 49% for Rio de Janeiro and Brasília samples, respectively. The GSTM1 phenotype distributions were not in agreement with Hardy-Weinberg equilibrium in either sample, c21 = 11.49 (P < 0.001) for Rio de Janeiro and c21 = 6.77 (P < 0.01) for Brasília. This deviation from Hardy-Weinberg equilibrium may be due to factors such as selection, errors in the phenotype determination or incomplete panmixia of the Brazilian population, whose main racial components are Caucasians, Africans and Indians

Urban quality of life assessment in the main cities of Colombia

La evaluación de la calidad de vida urbana se desarrolla a través de indicadores denominados índices de calidad de vida urbana (ICVU), que permiten expresarla en escala numérica siendo de gran importancia para investigadores, planificadores y encargados de la gestión pública en la toma de decisiones. En Colombia no se ha realizado trabajos previos que comparen integralmente según su Calidad de Vida Urbana (CVU) las diferentes ciudades, es por ello que en el presente artículo se realiza una evaluación de esta en las seis principales ciudades colombianas, diseñando y evaluando un ICVU que integra cuatro dimensiones (Social, Económica, Ambiental, Servicios y Gestión), se toma en cuenta para ello diez indicadores y cuarenta y nueve sub-indicadores. El estudio comprende datos de los años 2011, 2012 y 2013

Human N-acetyltransferase 2 (NAT2) gene variability in Brazilian populations from different geographical areas

Introduction: Several polymorphisms altering the NAT2 activity have already been identified. The geographical distribution of NAT2 variants has been extensively studied and has been demonstrated to vary significantly among different ethnic population. Here, we describe the genetic variability of human N-acetyltransferase 2 (NAT2) gene and the predominant genotype-deduced acetylation profiles of Brazilians.Methods: A total of 964 individuals, from five geographical different regions, were genotyped for NAT2 by sequencing the entire coding exon.Results: Twenty-three previously described NAT2 single nucleotide polymorphisms (SNPs) were identified, including the seven most common ones globally (c.191G&gt;A, c.282C&gt;T, c.341T&gt;C, c.481C&gt;T, c.590G&gt;A, c.803A&gt;G and c.857G&gt;A). The main allelic groups were NAT2*5 (36%) and NAT2*6 (18.2%), followed to the reference allele NAT2*4 (20.4%). Combined into genotypes, the most prevalent allelic groups were NAT2*5/*5 (14.6%), NAT2*5/*6 (11.9%) and NAT2*6/*6 (6.2%). The genotype deduced NAT2 slow acetylation phenotype was predominant but showed significant variability between geographical regions. The prevalence of slow acetylation phenotype was higher in the Northeast, North and Midwest (51.3%, 45.5% and 41.5%, respectively) of the country. In the Southeast, the intermediate acetylation phenotype was the most prevalent (40.3%) and, in the South, the prevalence of rapid acetylation phenotype was significantly higher (36.7%), when compared to other Brazilian states (p &lt; 0.0001). Comparison of the predicted acetylation profile among regions showed homogeneity among the North and Northeast but was significantly different when compared to the Southeast (p = 0.0396). The Southern region was significantly different from all other regions (p &lt; 0.0001).Discussion: This study contributes not only to current knowledge of the NAT2 population genetic diversity in different geographical regions of Brazil, but also to the reconstruction of a more accurate phenotypic picture of NAT2 acetylator profiles in those regions

HLA-A*01 allele: a risk factor for dengue haemorrhagic fever in Brazil’s population

Submitted by Sandra Infurna ([email protected]) on 2017-01-05T16:56:51Z No. of bitstreams: 1 giselda_cabello_etal_IOC_2012.pdf: 323613 bytes, checksum: fa947b7beb22adf47a864a9c9d0a7372 (MD5)Approved for entry into archive by Sandra Infurna ([email protected]) on 2017-01-05T17:04:22Z (GMT) No. of bitstreams: 1 giselda_cabello_etal_IOC_2012.pdf: 323613 bytes, checksum: fa947b7beb22adf47a864a9c9d0a7372 (MD5)Made available in DSpace on 2017-01-05T17:04:22Z (GMT). No. of bitstreams: 1 giselda_cabello_etal_IOC_2012.pdf: 323613 bytes, checksum: fa947b7beb22adf47a864a9c9d0a7372 (MD5) Previous issue date: 2012Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto de Pesquisa Clínica Evandro Chagas. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto de Pesquisa Clínica Evandro Chagas. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto de Pesquisa Clínica Evandro Chagas. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto de Pesquisa Clínica Evandro Chagas. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto de Pesquisa Clínica Evandro Chagas. Rio de Janeiro, RJ, Brasil.Severe forms of dengue, such as dengue haemorrhagic fever (DHF) and dengue shock syndrome, are examples of a complex pathogenic mechanism in which the virus, environment and host immune response interact. The influence of the host’s genetic predisposition to susceptibility or resistance to infectious diseases has been evidenced in several studies. The association of the human leukocyte antigen gene (HLA) class I alleles with DHF susceptibility or resistance has been reported in ethnically and geographically distinct populations. Due to these ethnic and viral strain differences, associations occur in each population, independently with a specific allele, which most likely explains the associations of several alleles with DHF. As the potential role of HLA alleles in the progression of DHF in Brazilian patients remains unknown, we then identified HLA-A alleles in 67 patients with dengue fever and 42 with DHF from Rio de Janeiro, Brazil, selected from 2002-2008 by the sequence-based typing technique. Statistical analysis revealed an association between the HLA-A*01 allele and DHF [odds ratio (OR) = 2.7, p = 0.01], while analysis of the HLAA* 31 allele (OR = 0.5, p = 0.11) suggested a potential protective role in DHF that should be further investigated. This study provides evidence that HLA class I alleles might be important risk factors for DHF in Brazilian patients