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Research on human leukocyte antigen (HLA) molecules in coronavirus disease 2019 (COVID-19) raised high expectations but has yielded limited results. Augusto et al.'s recent study in Nature unveils a strong association of HLA-B*15:01 with asymptomatic COVID-19, representing an important contribution to genetics in COVID-19.

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Resumen: El panel intergubernamental sobre cambio climático estima que para el año 2100 74% de la población estará expuesta a olas de calor en el peor escenario (definido como 3 días consecutivos con temperaturas igual o sobre el percentil 95 de un periodo de tiempo), abarcando en Santiago hasta 40% de los días de verano con temperaturas extremas. Producto de la crisis climática también pueden ocurrir eventos de frío extremo. Ambos fenómenos constituyen un riesgo para la salud, particularmente para las enfermedades cardiovasculares. Objetivo: Estudiar la asociación entre temperaturas extremas y enfermedades cardiovasculares (mortalidad por enfermedades cardiovasculares, infarto agudo al miocardio, accidente cerebrovascular, hipertensión y paro cardíaco extra hospitalario). Métodos: Se realizó una revisión bibliográfica en los buscadores ISI-Web of Science, Scopus y Nature utilizando los términos de búsqueda heatwave, cardiovascular disease y extreme heat entre los años 2016-2021 incluyendo trabajos que presenten medidas de asociación entre temperaturas extremas (percentil 5 para temperaturas bajas y percentil 90 para temperaturas altas) y enfermedades cardiovasculares, arrojando 130 resultados de los cuales se seleccionaron 19. Resultados: Tanto las temperaturas altas como bajas aumentaron el riesgo de muerte por infarto agudo al miocardio (IAM) (RR: 2,29 [2,18-2,40] y RR: 2,3 [1,2-4,6], respectivamente) y paro cardíaco (OR 3,34 [1,90-3,58] y OR: 1,75 [1,23-2,49], respectivamente). La mortalidad por hipertensión arterial se asoció a temperaturas altas (OR 1,91 [1,2-3,1]), mientras que la mortalidad por enfermedades cardiovasculares (ECV) en general a bajas (RR: 1,79 [1,64 - 1,95]). En hospitalizaciones por ECV el riesgo por temperaturas altas (P99) fue RR: 1,74 [IC95%: 1,30-2,32]. Se identificaron diferencias por sexo y mayor riesgo en los mayores de 75 años y quienes presentaron exposiciones prolongadas. Conclusión: Hay una fuerte asociación entre hospitalizaciones y muerte por ECV y temperaturas extremas. Las mujeres y los adultos mayores son los más afectados.

Abstract: The Inter governmental panel estimates that in a worst case scenario, by 2100 74% of people will be exposed to heat waves (3 consecutive days with temperatures at or above the 95% percentile). This might be the case in up to 40% of days in Santiago. As a consequence of climate change there will also be periods with extremely low temperatures. Both conditions increase the risk of cardiovascular disease. Aim: to study the association of extreme temperatures with the incidence of cardiovascular disease (death, myocardial infarction, stroke and out of hospital sudden death). Method: The ISI-Web of Science, Scopus and Nature databases were searched using the terms "heat wave", "cardiovascular disease" and "extreme heat" for articles published between 2016 and 2021.

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Aims: This study aimed to describe the epidemiological characteristics of COVID-19 cases diagnosed inquarantine facilities in Paraguay. Methods: This was a descriptive, cross-sectional, temporarily retrospective study. The time scope was from April 1 to September 30 2020. The variables were sex, age and administrative departments. The open access data available on the website of the Ministry of Public Health and Social Welfare was used. Frequencies expressed in percentages and the Chi square value were calculated to observe the statistically significant differences between cases and age and sex. Results: from April 4 to September 30 2020, 1.581 cases were diagnosed in COVID-19. The fewest number of positive cases were reported in April (50) and the highest number was reported in May (628). From the total, 69.6% (1.101) were male, (male / female ratio 2.3), 42.1% (666) were aged between 20-29 years, the average age was 30.23 years (range 0 to 87, standard deviation 14.66. 95% CI 1.5 - 58.95). The departments with the highest number of cases were Caaguazú 21.7 % (343), Alto Paraná 17.3 % (274), Central 13.3% (210) and Asunción 11.4% (180). The least number of cases of COVID-10 in women were registered in the Departments of Amambay, Pdte. Hayes, Ñeembucú and Boquerón, and in men the Departments of Ñeembucú and Boquerón. The largest number of male cases were registered in Caaguazú 70.8% (243), Alto Paraná 66.1% (181), Central 69.5% (146) and Asunción 68.9% (124). The number of Covid-19 infected people in quarantine facilities presented statistically significant differences between the variables sex and age. Conclusion: the quarantine facilities are one of the measures that the Paraguayan government needed to avoid the rapid spread and dispersion of the virus. The epidemiology of the cases diagnosed in them corresponds to what was expected according to the characteristics of the country.

Objetivo: descrever as características epidemiológicas dos casos de COVID-19 diagnosticados em instalações de quarentena no Paraguai. Metodologia: estudo descritivo, transversal, temporalmente retrospectivo. Quanto ao âmbito temporal foi considerado o período de 1 de abril a 31 de setembro de 2020. As variáveis analisadas foram: sexo, idade e Departamentos Administrativos. Foram utilizados dados abertos de acesso público que estão disponíveis na página oficial do Ministério da Saúde Pública e Bem-Estar Social. Foram calculadas frequências expressadas em porcentagem e aplicado o teste de qui-quadrado para ver diferenças estatisticamente significativas entre os casos, idade e sexo. Resultados: De 4 de abril a 30 de setembro de 2020, foram diagnosticados 1.581 casos de COVID-19. Em abril houve a menor quantidade de casos positivos (50) e em maio a maior quantidade (628). 69.6% (1.101) foram em indivíduos do sexo masculino (relação homem/mulher de 2,3). 42.1% (666) tinham idade compreendida entre 20-29 anos, com uma média de 30.23 anos (classificação 0 a 87, desvio padrão 14,66, IC 95% 1.5 ­ 58.95). Os Departamentos com maior número de casos foram 21.7 % (343), Alto Paraná 17.3 % (274), Central 13.3% (210) e Assunção 11.4% (180). O menor número de casos de COVID-19 em mulheres foi registado nos Departamentos de Amambay, Pdte. Hayes, Ñeembucú e Boquerón, e nos homens, os Departamentos de Ñeembucú e Boquerón. A maior quantidade de casos no sexo masculino foi registrado em Caaguazú 70.8% (243), Alto Paraná 66.1% (181), Central 69.5% (146) e Assunção 68.9% (124). O número de infectados por COVID-19 nos albergues apresentou diferenças estatisticamente significativas entre as variáveis sexo e idade. Conclusão: Os abrigos temporários são uma das importantes medidas adotadas pelo governo paraguaio para evitar a rápida dispersão e propagação do vírus. A epidemiologia dos casos neles diagnosticados correspondem às esperadas para as características do país.

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BACKGROUND: Childhood obesity is a public health concern that disproportionately affects populations from low socioeconomic status (SES) and minority groups. Evaluation of social and health risk factors of preschool children living along the Texas-Mexico border provides feedback to design health interventions. METHODS: South Texas Early Prevention Study-PreK (STEPS-PreK) is a cluster randomized trial designed to assess the effect of the Bienestar coordinated school health program on children's health outcomes. Family characteristics, dietary intake, fitness, and anthropometric data were collected from 1277 preschool students enrolled in 28 preschools. RESULTS: The response rate was 67%. Overall, 57% of families lived in poverty. The mean age of students was 4.7 years, 95% were Hispanic, and 51% were male. The average serving of fruits and vegetables per day were 1 and 1/3, respectively. Of these, students consumed 39.7% of fruits and 18.9% of vegetables. Obesity prevalence for boys was 19.2% and for girls 16.8%. Nearly one-half reported some form of food insecurity. CONCLUSIONS: Children living in low-income areas are affected by high levels of social and health risk factors. It is these families who should be targeted with early-age and culturally appropriate health programs.

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HLA-DRB1 shared epitope (SE) alleles are important genetic contributors for the risk of developing anti-citrullinated protein antibodies (ACPA)-positive rheumatoid arthritis (RA), particularly in Caucasians. We aimed to analyze the contribution of HLA-DRB1 alleles and single nucleotide polymorphisms (SNPs) within the major histocompatibility complex (MHC) region to the susceptibility to develop ACPA-positive RA in a Latin American (LA) population with admixed ancestry. A total of 289 ACPA-positive RA patients and 510 controls were enrolled in this study. The presence of HLA-DRB1*04:01, *09:01 and *10:01 was increased in ACPA-positive RA patients compared with healthy controls (p < 0.0001, p < 0.001 and p < 0.01, respectively), whereas DRB1*07:01 and *08:02 was associated with a decreased risk of ACPA-positive RA (p < 0.001 and p < 0.01, respectively). These results showed a strong correlation with estimates from studies in Asians but not in Caucasian populations. The present study describes the protective effects of the HLA-DRB1*07:01 and *08:02 alleles in ACPA-positive RA patients in a LA population for the first time. Identifying relationships between HLA-DRB1 alleles and RA is important for identifying disease associations in different ethnic groups in order to reach a better understanding of RA worldwide.

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The successful implementation of personalized medicine will rely on the integration of information obtained at the level of populations with the specific biological, genetic, and clinical characteristics of an individual. However, because genome-wide association studies tend to focus on populations of European descent, there is a wide gap to bridge between Caucasian and non-Caucasian populations before personalized medicine can be fully implemented, and rheumatoid arthritis (RA) is not an exception. In this review, we discuss advances in our understanding of genetic determinants of RA risk among global populations, with a focus on the Latin American population. Geographically restricted genetic diversity may have important implications for health and disease that will remain unknown until genetic association studies have been extended to include Latin American and other currently under-represented ancestries. The next few years will witness many breakthroughs in personalized medicine, including applications for common diseases and risk stratification instruments for targeted prevention/intervention strategies. Not all of these applications may be extrapolated from the Caucasian experience to Latin American or other under-represented populations.

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The term spondyloarthritis (SpA) encompasses a group of chronic inflammatory diseases with common features in terms of clinical presentation and genetic predisposition. SpA is characterized by inflammation of the spine and peripheral joints, and is also be associated with extra-articular inflammatory manifestations such as psoriasis, uveitis, or inflammatory bowel disease (IBD). The etiology of SpA is not completely understood, but it is known to have a strong genetic component dominated by the human leukocyte antigen (HLA)-B27. In the last few years, our understanding of genetic susceptibility to SpA, particularly ankylosing spondylitis (AS), has greatly improved thanks to the findings derived from powered genome-wide association studies (GWAS) based on single nucleotide polymorphism (SNP) arrays. These studies have identified many candidate genes, therefore providing new potential directions in the exploration of disease mechanisms, especially with regard to the key role of the immune system in the pathogenesis of SpA. SpA is a complex disease where genetic variability, environmental factors, and random events interact to trigger pathological pathways. The aim of this review is to summarize current findings on the genetics of SpA, some of which might help to study new treatment approaches.

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The contribution of genetic ancestry on chronic obstructive pulmonary disease (COPD) predisposition remains unclear. To explore this relationship, we analyzed the associations between 754,159 single nucleotide polymorphisms (SNPs) and risk of COPD (n = 214 cases, 193 healthy controls) in Talca, Chile, considering the genetic ancestry and established risk factors. The proportion of Mapuche ancestry (PMA) was based on a panel of 45 Mapuche reference individuals. Five PRDM15 SNPs and two PPP1R12B SNPs were associate with COPD risk (p = 0.05 to 5×10-4) in those individuals with lower PMA. Based on linkage disequilibrium and sliding window analyses, an adjacent PRDM15 SNPs were associated with COPD risk in the lower PMA group (p = 10-3 to 3.77×10-8). Our study is the first to report an association between PPP1R12B and COPD risk, as well as effect modification between ethnicity and PRDM15 SNPs in determining COPD risk. Our results are biologically plausible given that PPP1R12B and PRDM15 are involved in immune dysfunction and autoimmunity, providing mechanistic evidence for COPD pathogenesis and highlighting the importance to conduct more genome wide association studies (GWAS) in admixed populations with Amerindian descent.

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The content and composition of seed storage proteins is largely responsible for wheat end-use quality. They mainly consist of polymeric glutenins and monomeric gliadins. According to their electrophoretic mobility, gliadins and glutenins are subdivided into several fractions. Glutenins are classified as high molecular weight or low molecular weight glutenin subunits (HMW-GSs and LMW-GSs, respectively). LMW-GSs are encoded by multigene families located at the orthologous Glu-3 loci. We designed a set of 16 single-nucleotide polymorphism (SNP) markers that are able to detect SDS-PAGE alleles at the Glu-A3 and Glu-B3 loci. The SNP markers captured the diversity of alleles in 88 international reference lines and 27 Mexican cultivars, when compared to SDS-PAGE and STS markers, however, showed a slightly larger percent of multiple alleles, mainly for Glu-B3. SNP markers were then used to determine the Glu-1 and Glu-3 allele composition in 54 CIMMYT historical lines and demonstrated to be useful tool for breeding programs to improve wheat end product properties.

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BACKGROUND: Genome-wide association studies (GWAS) have accelerated our understanding of the genetic underpinnings of chronic obstructive pulmonary disease (COPD); however, GWAS populations have typically consisted of European descent, with ∼1% of Latin American ancestry. OBJECTIVE: To overcome this limitation, we conducted a GWAS in a rural Chilean population with increased COPD risk to investigate genetic variation of COPD risk in this understudied minority population. METHOD: We carried out a case-control study of 214 COPD patients (defined by the GOLD criteria) and 193 healthy controls in Talca, Chile. DNA was extracted from venous blood and genotyped on the Illumina Global Screening Array (n = 754,159 markers). After exclusion based on Hardy-Weinberg equilibrium (p ≤ 0.001), call rates (<95%), and minor allele frequencies (<0.5%) in controls, 455,564 markers were available for logistic regression. RESULTS: PRDM15 rs1054761 C allele (p = 2.22 × 10-7) was associated with decreased COPD risk. Three PRDM15 SNPs located on chromosome 21 were significantly associated with COPD risk (p < 10-6). Two of these SNPs, rs1054761 and rs4075967, were located on a noncoding transcript variant region of the gene. CONCLUSION: PRDM15 overexpression may play a role in the B-cell dysregulation in COPD pathogenesis. To the best of our knowledge, the association between PRDM15 and COPD risk was not previously found in GWAS studies in largely European populations, highlighting the importance of investigating novel variants associated with COPD risk among ethnically diverse populations.

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The limited knowledge on Papillomavirus diversity (particularly in wild animal species) influences the accuracy of PVs phylogeny and their evolutionary history, and hinders the comprehension of PVs pathogenicity, especially the mechanism of virus - related cancer progression. This study reports the identification of Leopardus wiedii Papillomavirus type 1 (LwiePV1), the first PV type within Lambdapapillomavirus in a Leopardus host. LwiePV1 full genome sequencing allowed the investigation of its taxonomic position and phylogeny. Based on results, LwiePV1 should be assigned to a novel PV species providing evidence for a polyphyletic origin of feline lambda PVs, and representing an exception to codivergence between feline lambda PVs and their hosts. Results improve our knowledge on PV diversity and pave the way to future studies investigating biological and evolutionary features of animal PVs.

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We report a case of metastases from a cancer of unknown primary whose primary site could not be identified during the appropriate pretreatment evaluation. The patient was a 58-year-old woman with a history of passive smoking and with no history of cancer in the family. Her current condition started with asthenia, adynamia, and pallor, followed by palpitations. An abdominopelvic computed tomography (CT) scan was performed, showing multiple osteolytic lesions distributed in all bone structures and axillary adenopathy on the left side. As part of the approach and given the high suspicion of multiple myeloma, tests were performed. The results were negative for multiple myeloma. A PET-CT scan was performed and showed left axillary adenopathy. The breasts and other organs were not affected. Left axillary lymph node resection revealed breast primary metastatic pleomorphic lobular carcinoma. Due to the metastatic disease (caused by the primary breast cancer), it was decided to start chemotherapy.

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Ninety healthy and unrelated volunteers were randomly selected to study the gene frequencies of Killer-cell immunoglobulin-like receptors (KIRs) in a Chilean (Talca) population. KIR typing was resolved by PCR-single specific primer (SSP), and their gene frequencies were calculated by direct counting of the number of positive and negative loci. The KIR genotype data is publicly available in the Allele Frequencies Net Database under the name "Chile Talca KIR".

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Most rheumatic diseases are complex or multifactorial entities with pathogeneses that interact with both multiple genetic factors and a high number of diverse environmental factors. Knowledge of the human genome sequence and its diversity among populations has provided a crucial step forward in our understanding of genetic diseases, identifying many genetic loci or genes associated with diverse phenotypes. In general, susceptibility to autoimmunity is associated with multiple risk factors, but the mechanism of the environmental component influence is poorly understood. Studies in twins have demonstrated that genetics do not explain the totality of the pathogenesis of rheumatic diseases. One method of modulating gene expression through environmental effects is via epigenetic modifications. These techniques open a new field for identifying useful new biomarkers and therapeutic targets. In this context, the development of "-omics" techniques is an opportunity to progress in our knowledge of complex diseases, impacting the discovery of new potential biomarkers suitable for their introduction into clinical practice. In this review, we focus on the recent advances in the fields of genomics and epigenomics in rheumatic diseases and their potential to be useful for the diagnosis, follow-up, and treatment of these diseases. The ultimate aim of genomic studies in any human disease is to understand its pathogenesis, thereby enabling the prediction of the evolution of the disease to establish new treatments and address the development of personalized therapies.

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Large genome-wide analysis studies (GWAS) and meta-analyses have dramatically increased our knowledge of the genetic risk factors of inflammatory bowel disease (IBD), identifying at least 163 loci. The endoplasmic reticulum aminopeptidase-2 ( ERAP2) gene has been reported as a potential candidate gene for IBD. GWAS have also shown the potential associations between ERAP single nucleotide polymorphisms (SNP) loci and susceptibility to several autoimmune diseases, and ERAP1 and ERAP2 polymorphisms are related to HLA class I-associated diseases, including ankylosing spondylitis and Behçet's disease. Interestingly, these associations were confined to individuals carrying HLA class I-risk alleles. The aim of this study was to investigate the association of ERAP1 and ERAP2 SNPs with IBD in a Spanish population, analysing their possible interaction with specific HLA-C alleles to IBD susceptibility. A total of 367 individuals were divided into 216 IBD cases and 151 controls. SNP genotyping was performed using TaqMan® genotyping assays, whereas HLA-C typing was analysed by sequence-specific oligonucleotide probing. Herein, we report an association of the ERAP1 SNP rs30187 with the HLA-C*07 allele. The existence of shared inflammatory pathways in immunologically related diseases together with the understanding of ERAP1 function may offer clues to novel treatment strategies.

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La artritis reumatoide (AR) es una enfermedad sistémica crónica y autoinmune, que afecta principalmente a las articulaciones sinoviales. Al igual que ocurre con muchas enfermedades autoinmunes, la etiología de la AR es multifactorial y desconocida. La susceptibilidad genética es evidente en AR, situando su heredabilidad en aproxima-damente el 60%. La importancia del conocimiento de los factores genéticos asociados con la AR se sitúa en la contribución a la comprensión de los mecanismos patogénicos de la enfermedad, así como a su aplicación clínica que nos acerque a un tratamiento más personalizado de los pacientes por medio de marcadores de riesgo, diagnóstico y/o pronóstico. En este artículo se revisan los factores genéticos de la AR, y se hace una aproximación a la situación en poblaciones latinoamericanas en general, y chile-na en particular.

Rheumatoid arthritis (RA) is an autoimmune inflammatory rheumatic disease that affects many tissues and organs, mainly synovial joints. Like many autoimmune dis-eases, the etiology of RA is multifactorial and unknown. Genetic susceptibility is evi-dent in RA, with its heritability around the 60%.The relevance of the knowledge of the genetic factors associated with RA relies on its contribution to the understanding of the pathological mechanisms of the disease, and the clinical applicability. This better understanding let us develop a more personalized treatment through genetic markers for risk, diagnostic and prognostic. In this paper, genetic factors of RA are reviewed and a general view of the Latin American populations, and particularly Chilean, is made.

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The International Center for Maize and Wheat Improvement (CIMMYT) leads the Global Wheat Program, whose main objective is to increase the productivity of wheat cropping systems to reduce poverty in developing countries. The priorities of the program are high grain yield, disease resistance, tolerance to abiotic stresses (drought and heat), and desirable quality. The Wheat Chemistry and Quality Laboratory has been continuously evolving to be able to analyze the largest number of samples possible, in the shortest time, at lowest cost, in order to deliver data on diverse quality traits on time to the breeders for making selections for advancement in the breeding pipeline. The participation of wheat quality analysis/selection is carried out in two stages of the breeding process: evaluation of the parental lines for new crosses and advanced lines in preliminary and elite yield trials. Thousands of lines are analyzed which requires a big investment in resources. Genomic selection has been proposed to assist in selecting for quality and other traits in breeding programs. Genomic selection can predict quantitative traits and is applicable to multiple quantitative traits in a breeding pipeline by attaining historical phenotypes and adding high-density genotypic information. Due to advances in sequencing technology, genome-wide single nucleotide polymorphism markers are available through genotyping-by-sequencing at a cost conducive to application for genomic selection. At CIMMYT, genomic selection has been applied to predict all of the processing and end-use quality traits regularly tested in the spring wheat breeding program. These traits have variable levels of prediction accuracy, however, they demonstrated that most expensive traits, dough rheology and baking final product, can be predicted with a high degree of confidence. Currently it is being explored how to combine both phenotypic and genomic selection to make more efficient the genetic improvement for quality traits at CIMMYT spring wheat breeding program.

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Wheat ( L.) cultivars must possess suitable end-use quality for release and consumer acceptability. However, breeding for quality traits is often considered a secondary target relative to yield largely because of amount of seed needed and expense. Without testing and selection, many undesirable materials are advanced, expending additional resources. Here, we develop and validate whole-genome prediction models for end-use quality phenotypes in the CIMMYT bread wheat breeding program. Model accuracy was tested using forward prediction on breeding lines ( = 5520) tested in unbalanced yield trials from 2009 to 2015 at Ciudad Obregon, Sonora, Mexico. Quality parameters included test weight, 1000-kernel weight, hardness, grain and flour protein, flour yield, sodium dodecyl sulfate sedimentation, Mixograph and Alveograph performance, and loaf volume. In general, prediction accuracy substantially increased over time as more data was available to train the model. Reflecting practical implementation of genomic selection (GS) in the breeding program, forward prediction accuracies () for quality parameters were assessed in 2015 and ranged from 0.32 (grain hardness) to 0.62 (mixing time). Increased selection intensity was possible with GS since more entries can be genotyped than phenotyped and expected genetic gain was 1.4 to 2.7 times higher across all traits than phenotypic selection. Given the limitations in measuring many lines for quality, we conclude that GS is a powerful tool to facilitate early generation selection for end-use quality in wheat, leaving larger populations for selection on yield during advanced testing and leading to better gain for both quality and yield in bread wheat breeding programs.

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