Genetic signatures of parental contribution in black and white populations in Brazil

Two hundred and three individuals classified as white were tested for 11 single nucleotide polymorphisms plus two insertion/deletions in their Y-chromosomes. A subset of these individuals (n = 172) was also screened for sequences in the first hypervariable segment of their mitochondrial DNA (mtDNA). In addition, complementary studies were done for 11 of the 13 markers indicated above in 54 of 107 black subjects previously investigated in this southern Brazilian population. The prevalence of Y-chromosome haplogroups among whites was similar to that found in the Azores (Portugal) or Spain, but not to that of other European countries. About half of the European or African mtDNA haplogroups of these individuals were related to their places of origin, but not their Amerindian counterparts. Persons classified in these two categories of skin color and related morphological traits showed distinct genomic ancestries through the country. These findings emphasize the need to consider in Brazil, despite some general trends, a notable heterogeneity in the pattern of admixture dynamics within and between populations/groups

Geoeconomic variations in epidemiology, ventilation management, and outcomes in invasively ventilated intensive care unit patients without acute respiratory distress syndrome: a pooled analysis of four observational studies

Background: Geoeconomic variations in epidemiology, the practice of ventilation, and outcome in invasively ventilated intensive care unit (ICU) patients without acute respiratory distress syndrome (ARDS) remain unexplored. In this analysis we aim to address these gaps using individual patient data of four large observational studies. Methods: In this pooled analysis we harmonised individual patient data from the ERICC, LUNG SAFE, PRoVENT, and PRoVENT-iMiC prospective observational studies, which were conducted from June, 2011, to December, 2018, in 534 ICUs in 54 countries. We used the 2016 World Bank classification to define two geoeconomic regions: middle-income countries (MICs) and high-income countries (HICs). ARDS was defined according to the Berlin criteria. Descriptive statistics were used to compare patients in MICs versus HICs. The primary outcome was the use of low tidal volume ventilation (LTVV) for the first 3 days of mechanical ventilation. Secondary outcomes were key ventilation parameters (tidal volume size, positive end-expiratory pressure, fraction of inspired oxygen, peak pressure, plateau pressure, driving pressure, and respiratory rate), patient characteristics, the risk for and actual development of acute respiratory distress syndrome after the first day of ventilation, duration of ventilation, ICU length of stay, and ICU mortality. Findings: Of the 7608 patients included in the original studies, this analysis included 3852 patients without ARDS, of whom 2345 were from MICs and 1507 were from HICs. Patients in MICs were younger, shorter and with a slightly lower body-mass index, more often had diabetes and active cancer, but less often chronic obstructive pulmonary disease and heart failure than patients from HICs. Sequential organ failure assessment scores were similar in MICs and HICs. Use of LTVV in MICs and HICs was comparable (42\ub74% vs 44\ub72%; absolute difference \u20131\ub769 [\u20139\ub758 to 6\ub711] p=0\ub767; data available in 3174 [82%] of 3852 patients). The median applied positive end expiratory pressure was lower in MICs than in HICs (5 [IQR 5\u20138] vs 6 [5\u20138] cm H2O; p=0\ub70011). ICU mortality was higher in MICs than in HICs (30\ub75% vs 19\ub79%; p=0\ub70004; adjusted effect 16\ub741% [95% CI 9\ub752\u201323\ub752]; p<0\ub70001) and was inversely associated with gross domestic product (adjusted odds ratio for a US$10 000 increase per capita 0\ub780 [95% CI 0\ub775\u20130\ub786]; p<0\ub70001). Interpretation: Despite similar disease severity and ventilation management, ICU mortality in patients without ARDS is higher in MICs than in HICs, with a strong association with country-level economic status. Funding: No funding

NAT2 gene diversity and its evolutionary trajectory in the Americas

N-acetyltransferase 2 (NAT2) is responsible for metabolizing xenobiotics; NAT2 polymorphisms lead to three phenotypes: rapid, intermediate and slow acetylators. We aimed to investigate NAT2 diversity in Native Americans. NAT2 exon 2 was sequenced for 286 individuals from 21 populations (Native American and American Mestizos). Excluding the basal/rapid haplotype NAT2*4, the most frequent haplotypes are NAT2*5B (35.95%) in hunter-gatherers and NAT2*7B (20.61%) and NAT2*5B (19.08%) in agriculturalists that were related to the slow phenotype. A new haplotype was identified in two Amerindians. Data from the ~ 44 kb region surrounding NAT2 in 819 individuals from Africa, East-Asia, Europe and America were used in additional analyses. No significant differences in the acetylator NAT2 haplotype and phenotype distributions were found between Native American populations practicing farming and/or herding and those practicing hunting and gathering, probably because of the absence or weakness of selection pressures and presence of demographic and random processes preventing detection of any selection signal.Fil: Bisso Machado, R.. Universidade Federal do Rio Grande do Sul; BrasilFil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Paixão Côrtes, V. R.. Universidade Federal do Rio Grande do Sul; BrasilFil: Acuña Alonzo, V.. Escuela Nacional de Antropología e Historia; MéxicoFil: Demarchi, Dario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Instituto de Antropología de Córdoba; Argentina. Universidad Nacional de Córdoba; ArgentinaFil: Sandoval, J. R. S.. Universidad de San Martin de Porres; PerúFil: Granara, A. A. S.. Universidad de San Martin de Porres; PerúFil: Salzano, F. M.. Universidade Federal do Rio Grande do Sul; BrasilFil: Hünemeier, T.. Universidade de Sao Paulo; BrasilFil: Bortolini, M. C.. Universidade Federal do Rio Grande do Sul; Brasi

A tale of agriculturalists and hunter-gatherers: Exploring the thrifty genotype hypothesis in native South Americans

Objectives: To determine genetic differences between agriculturalist and hunter-gatherer southern Native American populations for selected metabolism-related markers and to test whether Neel's thrifty genotype hypothesis (TGH) could explain the genetic patterns observed in these populations. Materials and Methods: 375 Native South American individuals from 17 populations were genotyped using six markers (APOE rs429358 and rs7412; APOA2 rs5082; CD36 rs3211883; TCF7L2 rs11196205; and IGF2BP2 rs11705701). Additionally, APOE genotypes from 39 individuals were obtained from the literature. AMOVA, main effects, and gene-gene interaction tests were performed. Results: We observed differences in allele distribution patterns between agriculturalists and hunter-gatherers for some markers. For instance, between-groups component of genetic variance (FCT) for APOE rs429358 showed strong differences in allelic distributions between hunter-gatherers and agriculturalists (p = 0.00196). Gene-gene interaction analysis indicated that the APOE E4/CD36 TT and APOE E4/IGF2BP2 A carrier combinations occur at a higher frequency in hunter-gatherers, but this combination is not replicated in archaic (Neanderthal and Denisovan) and ancient (Anzick, Saqqaq, Ust-Ishim, Mal'ta) hunter-gatherer individuals. Discussion: A complex scenario explains the observed frequencies of the tested markers in hunter-gatherers. Different factors, such as pleotropic alleles, rainforest selective pressures, and population dynamics, may be collectively shaping the observed genetic patterns. We conclude that although TGH seems a plausible hypothesis to explain part of the data, other factors may be important in our tested populations.Fil: Reales, Guillermo. Universidade Federal do Rio Grande do Sul; BrasilFil: Rovaris, Diego L.. Universidade Federal do Rio Grande do Sul; BrasilFil: Jacovas, Vanessa C.. Universidade Federal do Rio Grande do Sul; BrasilFil: Hünemeier, Tábita. Universidade de Sao Paulo; BrasilFil: Sandoval, José R.. Universidad de San Martín de Porres. Facultad de Medicina Humana; PerúFil: Salazar Granara, Alcibiades. Universidad de San Martín de Porres. Facultad de Medicina Humana; PerúFil: Demarchi, Dario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Antropología de Córdoba. Universidad Nacional de Córdoba. Facultad de Filosofía y Humanidades. Instituto de Antropología de Córdoba; ArgentinaFil: Tarazona Santos, Eduardo. Universidade Federal de Minas Gerais; BrasilFil: Felkl, Aline B.. Universidade Federal do Rio Grande do Sul; BrasilFil: Serafini, Michele A.. Universidade Federal do Rio Grande do Sul; BrasilFil: Salzano, Francisco M.. Universidade Federal do Rio Grande do Sul; BrasilFil: Bisso Machado, Rafael. Universidad de la República; UruguayFil: Comas, David. Universitat Pompeu Fabra; EspañaFil: Paixão Côrtes, Vanessa R.. Universidade Federal da Bahia; BrasilFil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasi

A new subhaplogroup of native American Y-Chromosomes from the Andes

The human Y chromosome contains highly informative markers for making historical inferences about the pre-Columbian peopling of Americas. However, the scarcity of these markers has limited its use in the inference of shared ancestry and past migrations relevant to the origin of the culturally and biologically diverse Native Americans. To identify new single nucleotide polymorphisms (SNPs) and increase the phylogenetic resolution of the major haplogroup Q found in the Americas, we have performed a search for new polymorphisms based on sequencing divergent Y chromosomes identified by microsatellite haplotype analysis. Using this approach, a new Y-SNP (SA01) has been identified in the Andean populations of South America, allowing for the detection of a new sublineage of Q1a3a. This sublineage displays a less complex phylogeographic network of associated microsatellites and more restricted geographic occurrence, and is given the designation Q1a3a4. This result indicates that our approach can be successfully used to identify sublineages of interest in a specific region that allow the investigation of particular histories of human populations.Marilza S. Jota, Daniela R. Lacerda, Jose´ R. Sandoval, Pedro Paulo R. Vieira, Simone S. Santos-Lopes, Rafael Bisso-Machado, Vanessa R. Paixão-Cortes, Susana Revollo, Cesar Paz-Y-Miño, Ricardo Fujita, Francisco M. Salzano, Sandro L. Bonatto, Maria Cátira Bortolini, Fabrício R. Santos and The Genographic Consortiu

O Deus do progresso: a difusão do cientificismo no movimento operário gaúcho da I República

O objetivo do artigo é examinar a difusão de teorias cientificistas no movimento operário gaúcho no período da I República, tais como o positivismo, o darwinismo, a antropologia criminal, o espiritismo kardecista, etc.; bem como os canais de difusão de tais idéias e suas repercussões políticas, sobretudo a conformação de um "estilo autoritário" na condução das lutas operárias.<br>This article aims at examining the diffusion of scientism theories in the gaúcho working movement in the 1st Republic, such as darwinism, criminal anthropology, the kardecist spiritism etc.; as well as the channels of diffusion of such ideas and its political repercution, above all else the conformation of an "authoritarian style" in the conduction of the working struggle