Distribution of QPY and RAH haplotypes of granzyme B gene in distinct Brazilian populations

Introduction: The cytolysis mediated by granules is one of the most important effector functions of cytotoxic T lymphocytes and natural killer cells. Recently, three single nucleotide polymorphisms (SNPs) were identified at exons 2, 3, and 5 of the granzyme B gene, resulting in a haplotype in which three amino acids of mature protein Q48P88Y245 are changed to R48A88H245, which leads to loss of cytotoxic activity of the protein. In this study, we evaluated the frequency of these polymorphisms in Brazilian populations. Methods: We evaluated the frequency of these polymorphisms in Brazilian ethnic groups (white, Afro-Brazilian, and Asian) by sequencing these regions. Results: The allelic and genotypic frequencies of SNP 2364A/G at exon 2 in Afro-Brazilian individuals (42.3% and 17.3%) were significantly higher when compared with those in whites and Asians (p < 0.0001 and p = 0.0007, respectively). The polymorphisms 2933C/G and 4243C/T also were more frequent in Afro-Brazilians but without any significant difference regarding the other groups. The Afro-Brazilian group presented greater diversity of haplotypes, and the RAH haplotype seemed to be more frequent in this group (25%), followed by the whites (20.7%) and by the Asians (11.9%), similar to the frequency presented in the literature. Conclusions: There is a higher frequency of polymorphisms in Afro-Brazilians, and the RAH haplotype was more frequent in these individuals. We believe that further studies should aim to investigate the correlation of this haplotype with diseases related to immunity mediated by cytotoxic lymphocytes, and if this correlation is confirmed, novel treatment strategies might be elaborated.

Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations

Abstract Background N-acetyltransferase type 2 (Nat2) is a phase II drug- metabolizing enzyme that plays a key role in the bioactivation of aromatic and heterocyclic amines. Its relevance in drug metabolism and disease susceptibility remains a central theme for pharmacogenetic research, mainly because of its genetic variability among human populations. In fact, the evolutionary and ethnic-specific SNPs on the NAT2 gene remain a focus for the potential discoveries in personalized drug therapy and genetic markers of diseases. Despite the wide characterization of NAT2 SNPs frequency in established ethnic groups, little data are available for highly admixed populations. In this context, five common NAT2 SNPs (G191A, C481T, G590A, A803G and G857A) were investigated in a highly admixed population comprised of Afro-Brazilians, Whites, and Amerindians in northeastern Brazil. Thus, we sought to determine whether the distribution of NAT2 polymorphism is different among these three ethnic groups. Results Overall, there were no statistically significant differences in the distribution of NAT2 polymorphism when Afro-Brazilian and White groups were compared. Even the allele frequency of 191A, relatively common in African descendents, was not different between the Afro-Brazilian and White groups. However, allele and genotype frequencies of G590A were significantly higher in the Amerindian group than either in the Afro-Brazilian or White groups. Interestingly, a haplotype block between G590A and A803G was verified exclusively among Amerindians. Conclusions Our results indicate that ethnic admixture might contribute to a particular pattern of genetic diversity in the NAT2 gene and also offer new insights for the investigation of possible new NAT2 gene-environment effects in admixed populations.

Comparing Regional Cultures Within a Country: Lessons From Brazil

In this joint article we test the common assumption that a measure of culture developed for the national level can also be used for comparing regions within a country. Three different research projects independently measured culture differences within the Federal Republic of Brazil, all three using a version of Hofstede`s Values Survey Module (VSM). The largest provided separate scores for all of Brazil`s 27 states, the next largest for 17 of the more populous states. Factor analyses of VSM item scores across states in both cases only very partly replicated Hofstede`s cross-national dimension structure; only Individualism versus Collectivism reappeared clearly. We attribute this lack of fit to a restriction of range of VSM item scores among states within a common Brazilian national culture. The item scores did show a cultural clustering of states that fairly closely followed the administrative division of the country into five regions. The culture profiles for these regions show remarkable differences between the Northeast with its Afro-Brazilian roots and the North with its native Indian roots. On the issue of comparing regional cultures, we found the VSM, based on global differences, too coarse a net for catching the finer cultural nuances between Brazilian states. Adding locally defined items would have made the studies more meaningful to Brazilians.

Religious communities and HIV prevention: An intervention study using a human rights-based approach

Religious communities have been a challenge to HIV prevention globally. Focusing on the acceptability component of the right to health, this intervention study examined how local Catholic, Evangelical and Afro-Brazilian religious communities can collaborate to foster young people`s sexual health and ensure their access to comprehensive HIV prevention in their communities in Brazil. This article describes the process of a three-stage sexual health promotion and HIV prevention initiative that used a multicultural human rights approach to intervention. Methods included 27 in-depth interviews with religious authorities on sexuality, AIDS prevention and human rights training of 18 young people as research-agents, who surveyed 177 youth on the same issues using self-administered questionnaires. The results, analysed using a rights-based perspective on health and the vulnerability framework, were discussed in daylong interfaith workshops. Emblematic of the collaborative process, workshops are the focus of the analysis. Our findings suggest that this human rights framework is effective in increasing inter-religious tolerance and in providing a collective understanding of the sexuality and prevention needs of youth from different religious communities, and also serves as a platform for the expansion of state AIDS programmes based on laical principles.

Budd-Chiari syndrome in a 25-year-old woman with Behçet's disease: a case report and review of the literature

Abstract Introduction The risk that patients with Behçet's disease will develop thrombotic complications has been previously described. Although it is distributed worldwide, Behçet's disease is rare in the Americas and Europe. Even though the pathogenic mechanisms of vascular complications of Budd-Chiari syndrome in patients with Behçet's disease are unknown, severe vascular complications of Budd-Chiari syndrome associated with Behçet's disease seem to affect mainly young men. Case presentation We report a case of Budd-Chiari syndrome, a severe vascular complication that developed in a 25-year-old Afro-Brazilian woman with Behçet's disease. Conclusion Severe vascular complications of Budd-Chiari syndrome in patients with Behçet's disease are much more common in young adult male patients; we present a rare case of Budd-Chiari syndrome in a young Afro-Brazilian woman with Behçet's disease.

Does celiac disease occur in Afro-derived Brazilian populations?

Background: Celiac disease is an autoimmune disorder that occurs in genetically susceptible individuals in whom the ingestion of dietary gluten induces intestinal mucosa inflammation. Previous studies suggest that celiac disease may either be very rare or underdiagnosed in African and/or African-derived population. Aim: Determine the prevalence of celiac disease in Sub-Saharan African-derived Brazilian communities using serological screening. Subjects and methods: Inhabitants from 10 African-derived communities from Northeastern of Brazil were screened for celiac disease. All sera were tested for endomysial class IgA antibody using indirect immunofluorescence. Results: No positive test for IgA-endomysial was observed in the 860 individuals tested. Conclusion: Our data suggests a low prevalence of celiac disease in African-derived Brazilian populations. Am. J. Hum. Biol., 2012. (c) 2012 Wiley Periodicals, Inc.