Impact of genetic background as a risk factor for atherosclerotic cardiovascular disease: A protocol for a nationwide genetic case-control (CV-GENES) study in Brazil.

Atherosclerotic Cardiovascular Disease (ASCVD) represents the leading cause of death worldwide, and individual screening should be based on behavioral, metabolic, and genetic profile derived from data collected in large population-based studies. Due to the polygenic nature of ASCVD, we aimed to assess the association of genomics with ASCVD risk and its impact on the occurrence of acute myocardial infarction, stroke, or peripheral artery thrombotic-ischemic events at population level. CardioVascular Genes (CV-GENES) is a nationwide, multicenter, 1:1 case-control study of 3,734 patients in Brazil. Inclusion criterion for cases is the first occurrence of one of the ASCVD events. Individuals without known ASCVD will be eligible as controls. A core lab will perform the genetic analyses through low-pass whole genome sequencing and whole exome sequencing. In order to estimate the independent association between genetic polymorphisms and ASCVD, a polygenic risk score (PRS) will be built through a hybrid approach including effect size of each Single Nucleotide Polymorphism (SNP), number of effect alleles observed, sample ploidy, total number of SNPs included in the PRS, and number of non-missing SNPs in the sample. In addition, the presence of pathogenic or likely pathogenic variants will be screened in 8 genes (ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9) associated with atherosclerosis. Multiple logistic regression will be applied to estimate adjusted odds ratios (OR) and 95% confidence intervals (CI), and population attributable risks will be calculated. Clinical trial registration: This study is registered in clinicaltrials.gov (NCT05515653).

Riverine forest as a significant habitat to harbor a wide range of bird species / Floresta ribeirinha como hábitat significativo para abrigo de uma gama de espécies de aves

Riverine forests are unique and highly significant ecosystems that are globally important for diverse and threatened avian species. Apart from being a cradle of life, it also serves as a gene pool that harbors a variety of flora and fauna species (repeated below). Despite the fact, this fragile ecosystem harbored avian assemblages; it is now disappearing daily as a result of human activity. Determining habitat productivity using bird species is critical for conservation and better management in the future. Multiple surveys were conducted over a 15-month period, from January to March 2019, using the distance sampling point count method. A total of 250 point count stations were fixed systematically at 300 m intervals. In total, 9929 bird individuals were recorded, representing 57 species and 34 families. Out of 57 bird species, two were vulnerable, one was data deficient, one was nearly threatened, and the remaining 53 species were of least concern. The Eurasian Collard Dove - Streptopelia decaocto (14.641 ± 2.532/ha), White-eared Bulbul - Pycnonotus leucotis (13.398 ± 4.342/ha) and Common Babbler - Turdoides caudata (10.244 ± 2.345/ha) were the three first plenteous species having higher densities. However, the densities of three species, i.e., Lesser Whitethroat - Sylvia curruca, Gray Heron - Ardea cinerea and Pallas Fish Eagle - Haliaeetus leucoryphus, were not analyzed due to the small sample size. The findings of diversity indices revealed that riverine forest has harbored the diverse avian species that are uniformly dispersed across the forest. Moreover, recording the ten foraging guilds indicated that riverine forest is rich in food resources. In addition, the floristic structure importance value index results indicated that riverine forest is diverse and rich in flora, i.e. trees, shrubs, weeds and grass, making it an attractive and productive habitat for bird species.

As florestas ribeirinhas são ecossistemas únicos e altamente significativos que são globalmente importantes para diversas espécies de aves ameaçadas de extinção. Além de serem o berço da vida, também servem como um conjunto genético que abriga uma variedade de espécies da flora e da fauna. Apesar disso, esse frágil ecossistema abrigava um conjunto de aves, mas agora está desaparecendo diariamente como resultado da atividade humana. Determinar a produtividade do hábitat usando espécies de pássaros é fundamental para a conservação e melhor gestão no futuro. Vários levantamentos foram realizados ao longo de um período de 15 meses, de janeiro de 2018 a março de 2019, por meio do método de contagem de pontos de amostragem de distância. Foram fixadas sistematicamente 250 estações de contagem de pontos em intervalos de 300 m. No total, foram registrados 9.929 indivíduos de aves, representando 57 espécies e 34 famílias. Das 57 espécies de aves, duas eram vulneráveis, uma tinha dados insuficientes, uma estava quase ameaçada e as 53 espécies restantes eram as menos preocupantes. O: Pomba de colar euroasiática - Streptopelia decaocto (14.641 ± 2.532/ha), o Bulbul de orelha branca - Pycnonotus leucotis (13.398 ± 4.342/ha) e Tagarela comum - Turdoides caudata (10.244 ± 2.345/ha) foram as três primeiras espécies abundantes com maiores densidades. No entanto, as densidades de três espécies, Papa-amoras-cinzento (Sylvia curruca), Garça-real-europeia (Ardea cinerea) e Águia-pescadora de Pallas (Haliaeetus leucoryphus), não foram analisadas por causa do pequeno tamanho da amostra. Os resultados dos índices de diversidade revelaram que a floresta ribeirinha abrigou diversas espécies de aves que estão uniformemente dispersas pela floresta. Além disso, o registro das dez guildas de forrageamento indicou que a floresta ribeirinha é rica em recursos alimentares. Além disso, os resultados do índice de valor de importância da estrutura florística indicaram que a floresta ribeirinha é variada e rica em flora, ou seja, árvores, arbustos, ervas daninhas e grama, tornando-a um hábitat atraente e produtivo para espécies de aves.

Tackling the lack of diversity in cancer research.

Despite the clear benefit of studying biological samples from diverse genetic backgrounds and geographical locations, our current knowledge of disease is mostly derived from the study of European-descent individuals. In the cancer field, this is reflected in the poor representation of African and Amerindian/Latino samples in most large public data repositories. This lack of diversity is due to several reasons, but here we focus on (1) the lack of support for studies on non-European populations that are performed in low- and middle-income countries (LMICs), and (2) unequal partnerships between scientists in LMICs and those in high-income countries. We argue that expanding access to research funding, increasing the participation of underrepresented scientists in editorial boards and international conferences, facilitating the publication of studies conducted in these countries, and properly acknowledging LMIC researchers' contributions in publications and grant applications will promote equity for scientists working in LMICs. We envisage that this will translate to more impactful research in these countries, which will include more samples from diverse populations. For the cancer field, this will broaden our understanding of pathomechanisms and may help to improve the treatment of patients from all backgrounds.

"Somos a terra lutando para sobreviver": histórias de vida de mulheres agroecologistas / "We are the earth struggling to survive": life stories of female agroecologists / "Somos la tierra luchando por sobrevivir": historias de vida de mujeres agroecólogas

A luta pela terra e seu uso incide na forma como as subjetividades têm sido produzidas no Brasil. No contexto capitalista, patriarcal e machista, vive-se um processo de exploração da mão de obra de mulheres e de recursos naturais da Terra. Este estudo objetivou conhecer histórias de vida de mulheres agricultoras rurais que participam de movimentos sociais agroecológicos no Rio Grande do Sul. Participaram do estudo três mulheres agricultoras, com idades entre 21 e 53 anos, residentes e trabalhadoras em zonas rurais das cidades de Viamão e Rolante, escolhidas por conveniência. Os instrumentos utilizados foram: questionário sociodemográfico, entrevista de história de vida e observação participante, os quais foram, posteriormente, submetidos à análise temática. Os resultados demonstram que as histórias de vida das mulheres relatadas são marcadas por lutas e formas de resistência. Para além das situações de conflitos e falta de recursos, avistam-se questões próprias de gênero, como a invisibilidade feminina e a desigualdade no acesso à terra por mulheres. A construção de base e o fortalecimento do papel político das mulheres nos movimentos sociais permite inferir que existem melhorias significativas nas desigualdades e injustiças no meio rural. Contudo, pontua-se a necessidade de se promover o diálogo entre os movimentos sociais, as mulheres e a sociedade política sobre os modelos atuais de políticas públicas existentes, possibilitando, assim, avançar nas discussões a respeito da promoção da equidade de gênero nos espaços rurais, bem como potencializar o avanço das práticas agroecológicas em direção à superação do capitalismo.(AU)

The struggle for land and its use affects the way subjectivities have been produced in Brazil. In the capitalist, patriarchal, and male-chauvinist context, women's labor and the Earth's natural resources are strongly exploited. This study aimed to know the life stories of female farmers who participate in agroecological social movements in the state of Rio Grande do Sul. Three female farmers, aged from 21 to 53, residents and workers in rural areas of the municipalities of Viamão and Rolante, chosen by convenience, participated in the study. The instruments used were: sociodemographic questionnaire, a life story interview, and participant observation, which were later subjected to thematic analysis. The results show that the participants' life stories are marked by struggles and means of resistance. In addition to conflicts and lack of resources, there are specific gender issues, such as female invisibility and inequality in women's access to land. The grassroots construction and the strengthening of the political role of women in social movements allow us to infer that there are significant improvements in inequalities and injustices in rural areas. However, it is necessary to promote dialogue between social movements, women, and political society about the current models of existing public policies, thus making it possible to advance in discussions about gender equity in rural spaces, as well as to enhance the advancement of agroecological practices to overcoming capitalism.(AU)

La lucha por la tierra y su uso afecta a la forma en que se han producido las subjetividades en Brasil. En el contexto capitalista, patriarcal y machista, hay un proceso de explotación del trabajo de las mujeres y de los recursos naturales de la tierra. Este estudio tuvo como objetivo conocer las historias de vida de agricultoras rurales que participan en movimientos sociales agroecológicos en Rio Grande do Sul (Brasil). Participaron en el estudio tres agricultoras, de entre 21 y 53 años, residentes y trabajadoras en áreas rurales de las ciudades de Viamão y Rolante, elegidas por conveniencia. Los instrumentos utilizados fueron: cuestionario sociodemográfico, entrevista de historia de vida y observación participante, cuyos datos posteriormente se sometieron a análisis temático. Los resultados muestran que las historias de vida de las mujeres relatadas están marcadas por luchas y formas de resistencia. A las situaciones de conflicto y falta de recursos se suman cuestiones específicas de género, como la invisibilidad femenina y la desigualdad en el acceso de las mujeres a la tierra. La construcción popular y el fortalecimiento del papel político de las mujeres en los movimientos sociales permiten inferir que hay mejoras significativas en las desigualdades e injusticias en las zonas rurales. Sin embargo, es necesario promover el diálogo entre los movimientos sociales, las mujeres y la sociedad sobre los modelos actuales de las políticas públicas existentes, para posibilitar avances en las discusiones sobre la promoción de la equidad de género en los espacios rurales y potenciar el avance de las prácticas agroecológicas hacia la superación del capitalismo.(AU)

Genetic Background Matters: Population-Based Studies in Model Organisms for Translational Research.

We are all similar but a bit different. These differences are partially due to variations in our genomes and are related to the heterogeneity of symptoms and responses to treatments that patients exhibit. Most animal studies are performed in one single strain with one manipulation. However, due to the lack of variability, therapies are not always reproducible when treatments are translated to humans. Panels of already sequenced organisms are valuable tools for mimicking human phenotypic heterogeneities and gene mapping. This review summarizes the current knowledge of mouse, fly, and yeast panels with insightful applications for translational research.

Antimicrobial resistance and genetic background of non-typhoidal Salmonella enterica strains isolated from human infections in São Paulo, Brazil (2000-2019).

Salmonella enterica causes Salmonellosis, an important infection in humans and other animals. The number of multidrug-resistant (MDR) phenotypes associated with Salmonella spp. isolates is increasing worldwide, causing public health concern. Here, we aim to characterize the antimicrobial-resistant phenotype of 789 non-typhoidal S. enterica strains isolated from human infections in the state of São Paulo, Brazil, along 20 years (2000-2019). Among the non-susceptible isolates, 31.55, 14.06, and 13.18% were resistant to aminoglycosides, tetracycline, and ß-lactams, respectively. Moreover, 68 and 11 isolates were considered MDR and Extended Spectrum ß-Lactamase (ESBL) producers, respectively, whereas one isolate was colistin-resistant. We selected four strains to obtain a draft of the Genome Sequence; one S. Infantis (ST32), one S. Enteritidis (ST11), one S. I 4,[5],12:i:- (ST19), and one S. Typhimurium (ST313). Among them, three presented at least one of the following antimicrobial resistance genes (AMR) linked to mobile DNA: blaTEM-1B, dfrA1, tetA, sul1, floR, aac(6')-laa, and qnrE1. This is the first description of the plasmid-mediated quinolone resistance (PMQR) gene qnrE1 in a clinical isolate of S. I 4,[5],12:i:-. The S. Typhimurium is a colistin-resistant isolate, but did not harbor mcr genes, but it presented mutations within the mgrB, pmrB, and pmrC regions that might be linked to the colistin-resistant phenotype. The virulence pattern of the four isolates resembled the virulence pattern of the highly pathogenic S. Typhimurium UK-1 reference strain in assays involving the in vivo Galleria mellonella model. In conclusion, most isolates studied here are susceptible, but a small percentage present an MDR or ESBL-producer and pathogenic phenotype. Sequence analyses revealed plasmid-encoded AMR genes, such as ß-lactam and fluoroquinolone resistance genes, indicating that these characteristics can be potentially disseminated among other bacterial strains.

The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis.

Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diagnosed with a cribriform-morular variant of PTC and FAP. We aimed to assess the genetic background of the reported patient, looking for variants that would help us explain the predisposition to tumorigenesis. Genomic DNA was extracted from peripheral blood lymphocytes, and whole exome sequencing was performed. We applied an overrepresentation and gene-set enrichment analysis to look for an accumulation of effects of variants in multiple genes at the genome. We found an overrepresentation of single nucleotide variants (SNVs) in extracellular matrix interactions and cell adhesion genes. Underrepresentation of SNVs in genes related to the regulation of autophagy and cell cycle control was also observed. We hypothesize that the package of alterations of our patient may help to explain why she presented colonic manifestations and thyroid cancer. Our findings suggest that multiple variants with minor impact, when considered together, may be helpful to characterize one particular clinical condition.

The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis

SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diagnosed with a cribriform-morular variant of PTC and FAP. We aimed to assess the genetic background of the reported patient, looking for variants that would help us explain the predisposition to tumorigenesis. Genomic DNA was extracted from peripheral blood lymphocytes, and whole exome sequencing was performed. We applied an overrepresentation and gene-set enrichment analysis to look for an accumulation of effects of variants in multiple genes at the genome. We found an overrepresentation of single nucleotide variants (SNVs) in extracellular matrix interactions and cell adhesion genes. Underrepresentation of SNVs in genes related to the regulation of autophagy and cell cycle control was also observed. We hypothesize that the package of alterations of our patient may help to explain why she presented colonic manifestations and thyroid cancer. Our findings suggest that multiple variants with minor impact, when considered together, may be helpful to characterize one particular clinical condition.

Fitness costs associated with chlorantraniliprole resistance in Spodoptera frugiperda (Lepidoptera: Noctuidae) strains with different genetic backgrounds.

BACKGROUND: Spodoptera frugiperda (J.E. Smith) is a difficult pest to manage mainly because of its resistance to insecticides and Bt proteins. We evaluated fitness costs of S. frugiperda resistant strains to diamide insecticides with different genetic backgrounds aiming to highlight the importance of using isogenic strains. We established a near-isogenic strain of S. frugiperda resistant to diamides (Iso-RR), using a chlorantraniliprole resistant strain (RR) selected from a field-collected population and a susceptible reference strain (SS). Fitness costs were assayed using strains with close-related genetic backgrounds (Iso-RR and SS) and strains with distant-related genetic backgrounds (RR and SS). RESULTS: No fitness cost associated with chlorantraniliprole resistance in S. frugiperda was observed using the Iso-RR strain, based on life history traits. The only parameter that differs between Iso-RR and SS strains was the mean length of a generation (T), whereas the Iso-RR strain presented T = 35.8 and SS strain showed T = 34.6. On the other hand, a significant fitness cost was detected using the RR strain. All population growth parameters differ between RR and SS strains. Based on the intrinsic rate of population increase (rm ) parameter, the relative fitness estimated was 1.02 for the Iso-RR strain and 0.64 for the RR strain. CONCLUSION: The genetic background of the resistant strains alters fitness cost outcomes. The RR strain showed fitness costs associated with resistance, but the Iso-RR did not. Our work supports the decision-making process of resistance management programs and adds to the growing body of research that enlightens the importance of strain genetics in fitness cost experiments.

Genetic Background Affects the Mucosal Secretory IgA Levels, Parasite Burden, Lung Inflammation, and Mouse Susceptibility to Ascaris suum Infection.

Ascariasis is a neglected tropical disease that is widespread in the world and has important socioeconomic impacts. The presence of various stages of worm development in the pulmonary and intestinal mucosae induces a humoral and cellular immune response. However, although there is much evidence of the protective role of mucosal immunity against various pathogens, including helminths, there is still a gap in the knowledge about the immune response and the mechanisms of action that are involved in protection against diseases, especially in the initial phase of ascariasis. Thus, the aim of this study was to evaluate the kinetic aspects of the immune parasitological parameters in intestinal and pulmonary mucosae in male mice with early ascariasis. Therefore, two mouse strains that showed different susceptibilities to ascariasis (BALB/c and C57BL/6J) when experimentally infected with 2,500 infective eggs of Ascaris suum from time point 0 were examined: the immune parasitological parameters were evaluated each 2 days after infection over a period of 12 days. The results were suggestive of a synergetic action of intestinal and pulmonary secretory IgA (S-IgA) contributing to protection against early ascariasis by reducing the amount of migrating larvae as well as the influx of leukocytes in the lung and the consequent impairment of pulmonary capacity.

The intensity of the foreign body response to polyether-polyurethane implant in diabetic mice is strain-dependent.

A number of genetic factors have been linked to the development of diabetes, a condition that often requires implantable devices such as glucose sensors. In normoglycaemic individuals, this procedure induces a foreign body reaction (FBR) that is detrimental to bioimplant functionality. However, the influence of the genetic background on this reaction in diabetes has not been investigated. We examined the components of FBR (capsule thickness, collagen deposition, mast cell and foreign body giant cell number) in subcutaneous implants of polyether polyurethane (SIPP) in streptozotocin (STZ)-induced diabetes in Swiss, C57BL/6 and Balb/c mice. The fasting blood glucose levels before STZ injections were 133.5 ± 5.1 mg/dL, after the treatment increased 68.4% in Swiss mice, 62.4% in C57BL/6 and 30.9% in Balb/c mice. All FBR features were higher in implants of Swiss and C57BL/6 mice compared with those in implants of Balb/c. Likewise, the apoptotic index was higher in implants of diabetic Swiss and C57BL/6 mice whose glycaemic levels were the highest. Our findings show an association between the severity of hyperglycaemic levels and the intensity of the FBR to SIPP. These important strain-related differences in susceptibility to diabetes and the intensity of the FBR must be considered in management using implantable devices in diabetic individuals.

The impact of socioeconomic and phenotypic traits on self-perception of ethnicity in Latin America.

Self-perception of ethnicity is a complex social trait shaped by both, biological and non-biological factors. We developed a comprehensive analysis of ethnic self-perception (ESP) on a large sample of Latin American mestizos from five countries, differing in age, socio-economic and education context, external phenotypic attributes and genetic background. We measured the correlation of ESP against genomic ancestry, and the influence of physical appearance, socio-economic context, and education on the distortion observed between both. Here we show that genomic ancestry is correlated to aspects of physical appearance, which in turn affect the individual ethnic self-perceived ancestry. Also, we observe that, besides the significant correlation among genomic ancestry and ESP, specific physical or socio-economic attributes have a strong impact on self-perception. In addition, the distortion among ESP and genomic ancestry differs across age ranks/countries, probably suggesting the underlying effect of past public policies regarding identity. Our results indicate that individuals' own ideas about its origins should be taken with caution, especially in aspects of modern life, including access to work, social policies, and public health key decisions such as drug administration, therapy design, and clinical trials, among others.

The Heritability of Behaviors Associated With the Host Gut Microbiota.

What defines whether the interaction between environment and organism creates a genetic memory able to be transferred to subsequent generations? Bacteria and the products of their metabolism are the most ubiquitous biotic environments to which every living organism is exposed. Both microbiota and host establish a framework where environmental and genetic factors are integrated to produce adaptive life traits, some of which can be inherited. Thus, the interplay between host and microbe is a powerful model to study how phenotypic plasticity is inherited. Communication between host and microbe can occur through diverse molecules such as small RNAs (sRNAs) and the RNA interference machinery, which have emerged as mediators and carriers of heritable environmentally induced responses. Notwithstanding, it is still unclear how the organism integrates sRNA signaling between different tissues to orchestrate a systemic bacterially induced response that can be inherited. Here we discuss current evidence of heritability produced by the intestinal microbiota from several species. Neurons and gut are the sensing systems involved in transmitting changes through transcriptional and post-transcriptional modifications to the gonads. Germ cells express inflammatory receptors, and their development and function are regulated by host and bacterial metabolites and sRNAs thus suggesting that the dynamic interplay between host and microbe underlies the host's capacity to transmit heritable behaviors. We discuss how the host detects changes in the microbiota that can modulate germ cells genomic functions. We also explore the nature of the interactions that leave permanent or long-term memory in the host and propose mechanisms by which the microbiota can regulate the development and epigenetic reprogramming of germ cells, thus influencing the inheritance of the host. We highlight the vast contribution of the bacterivore nematode C. elegans and its commensal and pathogenic bacteria to the understanding on how behavioral adaptations can be inter and transgenerational inherited.

On the origins of American Criollo pigs: A common genetic background with a lasting Iberian signature.

American Criollo pigs are thought to descend mainly from those imported from the Iberian Peninsula starting in the late 15th century. Criollo pigs subsequently expanded throughout the Americas, adapting to very diverse environments, and possibly receiving influences from other origins. With the intensification of agriculture in the mid-20th century, cosmopolitan breeds largely replaced Criollo pigs, and the few remaining are mostly maintained by rural communities in marginal areas where they still play an important socio-economic and cultural role. In this study, we used 24 microsatellite markers in samples from 1715 pigs representing 46 breeds with worldwide distribution, including 17 American Criollo breeds, with the major focus of investigating their genetic diversity, structure and breed relationships. We also included representatives of the Iberian, Local British, Hungarian, Chinese and Commercial breeds, as well as Wild Boar, in order to investigate their possible influence in the genetic composition of Criollos. Our results show that, when compared with the other breeds, Criollo pigs present higher levels of genetic diversity, both in terms of allelic diversity and expected heterozygosity. The various analyses indicate that breed differentiation overall explains nearly 21% of the total genetic diversity. Criollo breeds showed their own identity and shared a common genetic background, tending to cluster together in various analyses, even though they differ from each other. A close relationship of Criollos with Iberian breeds was revealed by all the different analyses, and the contribution of Iberian breeds, particularly of the Celtic breeds, is still present in various Criollo breeds. No influence of Chinese breeds was detected on Criollos, but a few were influenced by Commercial breeds or by wild pigs. Our results confirm the uniqueness of American Criollo pigs and the role that Iberian breeds have played in their development.

Analysis of the population structure of a cattle conservation nucleus Curraleiro Pé Duro / [Análise da estrutura populacional de um núcleo de conservação de bovino Curraleiro Pé Duro]

The objective of this research was to study the population structure of the Cattle Conservation Nucleos Curraleiro Pé Duro of the Instituto Nacional do Semiárido (NCP_INSA) based on pedigree data. Genealogical information from 338 animals registered in the period from 1991 to 2019 was used. The number of founding animals (Nf), the effective number of founders (fe), effective number of ancestors (fa), inbreeding coefficient (F), and average relatedness coefficient (AR), in addition to Fis, Fit and Fst were estimated. It was possible to identify ancestors up to the third generation, with an increase in information over the generations. Of the total pedigree information evaluated, 90.53% had the identification of the father and mother. The effective size of the population was smaller than those proposed by FAO, suggesting the need to redefine the herd management and genetic management plan strategies, promoting gene flow and breed expansion.(AU)

O objetivo com essa pesquisa foi estudar a estrutura populacional do Núcleo de Conservação de Bovinos Curraleiro Pé-Duro (NCP) do Instituto Nacional do Semiárido (INSA), por meio de dados de pedigree. Utilizaram-se informações genealógicas de 338 animais registrados no período de 1991 a 2019. Foi estimado o número de animais fundadores (Nf), o número efetivo de fundadores (fe), o número efetivo de ancestrais (fa), o coeficiente de endogamia (F) e o coeficiente de parentesco médio (AR), além do Fis, Fit e Fst. Foi possível identificar ancestrais até a terceira geração, com aumento crescente das informações ao longo das gerações. Do total de informações avaliadas, 90,53% possuíam identificação do pai e da mãe. O tamanho efetivo da população foi inferior ao mínimo proposto pela FAO, o que sugere a necessidade de redefinir as estratégias do plano de gestão e de manejo genético do rebanho, de modo a promover fluxo gênico e expansão da raça.(AU)

Outcomes of Japanese patients with non-alcoholic fatty liver disease according to genetic background and lifestyle-related diseases.

INTRODUCTION AND OBJECTIVES: Genetic background may be involved in the mechanisms of liver injury and the development of non-alcoholic fatty liver disease (NAFLD). However, its contributions to the long-term outcome of NAFLD have been unclear. METHODS: We enrolled 314 Japanese patients with biopsy-confirmed NAFLD from 2000 to 2018 (161 men [51.3%]; median age, 53 [14-84] years; 114 with advanced fibrosis [37.5%]) in the patients without hepatocellular carcinoma at diagnosis. Genomic DNA was extracted from peripheral blood and single nucleotide polymorphisms (SNPs) were analyzed. Associations of mortality with patatin-like phospholipase 3 (PNPLA3) and aldehyde dehydrogenase 2 (ALDH2) were analyzed. Finally, a subgroup analysis according to lifestyle-related disease was performed. RESULTS: During the median 7 years of follow-up, 20 patients (6.4%) died (13 liver-related [4.1%] and 7 non-liver-related deaths [2.2%]). Patients with ALDH2 (non-GG genotype) who had reduced alcohol metabolism tended to have a poor prognosis (p = 0.06). Patients carrying both risk SNPs of PNPLA3 (GG) and ALDH2 (non-GG) had a significantly poor prognosis (p = 0.01). In the subgroup analysis, patients with PNPLA3 (GG) who were non-diabetics (p = 0.06) or non-dyslipidemic (p = 0.03), with ALDH2 (non-GG) who were non-dyslipidemic (p = 0.01) or hypertensive (p = 0.03), also had a poor prognosis. The Cox analysis revealed that ALDH2 (non-GG) was associated with a poor prognosis (Hazard ratio: 4.568, 95% Confidence Interval: 1.294-16.131, p = 0.02) similar to the liver function tests. CONCLUSIONS: Genetic background may affect NAFLD prognosis and ALDH2 SNP could predict the outcome.

Zootechnic and economic indicators of terminationin feedlotof different genetic groups of lambs

The objective of this work was to evaluate the performance, carcass traitsand economic indicators of Santa Inês lambs and their crossings finished in feedlot. Thirty whole lambs (10 Santa Inês, 10 ½ Dorper + ½ Santa Inês and 10 ¾ Dorper + » Santa Inês) were used, with 115 days of age and initial live weight of 20.07 kg. The lambs were kept for 60 days receiving sorghum silage and concentrate, after which they were slaughtered. The ¾ Dorper + » Santa Inês lambs and the ½ Dorper + ½ Santa Inês lambs showed higher of dry matter intake and waterintake, greater daily weight gain andbody score in relation to Santa Inês lambs. The carcasses of ¾ Dorper + » Santa Inês lambs showedbetter conformation, finishing and marbling. The gross profit margin showed positive values for all genetic groups, covering the effective operating cost. Dorper crossbred lambs had a higher gross margin compared to Santa Inês lambs. The cost of the diet represented on average 61.35% of the price paid per kilo of sheep meat. In the sheep meat production system, the genetic group influences the zootechnical andeconomic indicators of finishing feedlotof lambs.

Zootechnic and economic indicators of terminationin feedlotof different genetic groups of lambs

The objective of this work was to evaluate the performance, carcass traitsand economic indicators of Santa Inês lambs and their crossings finished in feedlot. Thirty whole lambs (10 Santa Inês, 10 ½ Dorper + ½ Santa Inês and 10 ¾ Dorper + » Santa Inês) were used, with 115 days of age and initial live weight of 20.07 kg. The lambs were kept for 60 days receiving sorghum silage and concentrate, after which they were slaughtered. The ¾ Dorper + » Santa Inês lambs and the ½ Dorper + ½ Santa Inês lambs showed higher of dry matter intake and waterintake, greater daily weight gain andbody score in relation to Santa Inês lambs. The carcasses of ¾ Dorper + » Santa Inês lambs showedbetter conformation, finishing and marbling. The gross profit margin showed positive values for all genetic groups, covering the effective operating cost. Dorper crossbred lambs had a higher gross margin compared to Santa Inês lambs. The cost of the diet represented on average 61.35% of the price paid per kilo of sheep meat. In the sheep meat production system, the genetic group influences the zootechnical andeconomic indicators of finishing feedlotof lambs.(AU)

Genetic and morphological characterization of traditional rice and bean varieties from the Pantanal of Mato Grosso, Brazil / Caracterização genética e morfológica de arroz e feijão do Pantanal mato-grossense, Brasil

Farmers from the district of São Pedro de Joselândia, belonging to the municipality of Barão de Melgaço, Pantanal of Mato Grosso, have been cultivating for some time two rice plant materials and three types of beans that, according to them, are not commercial. For this reason, the objective of this work was to test the originality of the materials by means of genetic and morphological characterization in order to identify whether the nature of the subsamples would be effectively traditional or whether they are varieties already known in the market. Morphological analyzes of the cultivated plants (phenotypic characteristics, cycle and flowering) and seed of the rice subsamples, hereinafter called Agulhinha Vermelho and Branquinho and of the Amarelinho, Rosinha and Roxinho subsamples were performed. Also, the evaluation of distribution of comparative genetic variability with other materials of the same species, already cataloged, was determined. The subsamples were characterized as traditional varieties different from those already cataloged and they are not found in the Nuclear Collection of Rice and Beans of the Brazilian Agricultural Research Corporation (Embrapa). They have distinct morphological characteristics, being potential species for use in the market of new technologies. This should guarantee to the residents of that community that they are breeders of specific materials of cultural heritage adapted to the local conditions.

Agricultores do distrito de São Pedro de Joselândia, pertencente ao município de Barão de Melgaço ­ Pantanal Norte do estado de Mato Grosso, vêm cultivando há tempos dois materiais vegetais de arroz e três materiais de feijão que, segundo os mesmos, não são comerciais. Por essa razão, com este trabalho o objetivo foi realizar a caracterização genética e morfológica desses materiais a fim de identificar se a natureza das subamostras seria efetivamente tradicional, ou se trataria de variedades conhecidas no mercado e descrever suas características. Foram realizadas análises morfológicas das plantas cultivadas (características fenotípicas, ciclo e florescimento) e de sementes das subamostras de arroz, doravante denominadas Agulhinha vermelho e Branquinho e das subamostras de feijão Amarelinho, Rosinha e Roxinho. Ainda, determinou-se a avaliação de distribuição de variabilidade genética comparativa com demais materiais das mesmas espécies, já catalogados. Observou-se que as subamostras foram caracterizadas como variedades tradicionais, diferentes daquelas já catalogadas e que não se encontram na Coleção Nuclear de Arroz e Feijão da Embrapa. As mesmas possuem características morfológicas distintas, podendo ser materiais com potencial para o uso no mercado de novas tecnologias, o que deve garantir aos moradores da comunidade, serem obtentores de materiais específicos e adaptado às condições locais.

Dual transcriptome analysis reveals differential gene expression modulation influenced by Leishmania arginase and host genetic background.

The outcome of Leishmania infection is strongly influenced by the host's genetic background. BALB/c mice are susceptible to Leishmania infection, while C57BL/6 mice show discrete resistance. Central to the fate of the infection is the availability of l-arginine and the related metabolic processes in the host and parasite. Depending on l-arginine availability, nitric oxide synthase 2 (NOS2) of the host cell produces nitric oxide (NO) controlling the parasite growth. On the other hand, Leishmania can also use host l-arginine for the production of polyamines through its own arginase activity, thus favouring parasite replication. Considering RNA-seq data, we analysed the dual modulation of host and parasite gene expression of BALB/c or C57BL/6 mouse bone marrow-derived macrophages (BMDMs) after 4 h of infection with Leishmania amazonensis wild-type (La-WT) or L. amazonensis arginase knockout (La-arg-). We identified 12 641 host transcripts and 8282 parasite transcripts by alignment analysis with the respective Mus musculus and L. mexicana genomes. The comparison of BALB/c_La-arg-versus BALB/c_La-WT revealed 233 modulated transcripts, with most related to the immune response and some related to the amino acid transporters and l-arginine metabolism. In contrast, the comparison of C57BL/6_La-arg-vs. C57BL/6_La-WT revealed only 30 modulated transcripts, including some related to the immune response but none related to amino acid transport or l-arginine metabolism. The transcriptome profiles of the intracellular amastigote revealed 94 modulated transcripts in the comparison of La-arg-_BALB/c vs. La-WT_BALB/c and 45 modulated transcripts in the comparison of La-arg-_C57BL/6 vs. La-WT_C57BL/6. Taken together, our data present new insights into the impact of parasite arginase activity on the orchestration of the host gene expression modulation, including in the immune response and amino acid transport and metabolism, mainly in susceptible BALB/c-infected macrophages. Moreover, we show how parasite arginase activity affects parasite gene expression modulation, including amino acid uptake and amastin expression.