35 resultados para European Populations


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Background: Colorectal cancer (CRC) is a disease of complex aetiology, with much of the expected inherited risk being due to several common low risk variants. Genome-Wide Association Studies (GWAS) have identified 20 CRC risk variants. Nevertheless, these have only been able to explain part of the missing heritability. Moreover, these signals have only been inspected in populations of Northern European origin. Results: Thus, we followed the same approach in a Spanish cohort of 881 cases and 667 controls. Sixty-four variants at 24 loci were found to be associated with CRC at p-values <10-5. We therefore evaluated the 24 loci in another Spanish replication cohort (1481 cases and 1850 controls). Two of these SNPs, rs12080929 at 1p33 (P-replication=0.042; P-pooled=5.523x10(-03); OR (CI95%)=0.866(0.782-0.959)) and rs11987193 at 8p12 (P-replication=0.039; P-pooled=6.985x10(-5); OR (CI95%)=0.786(0.705-0.878)) were replicated in the second Phase, although they did not reach genome-wide statistical significance. Conclusions: We have performed the first CRC GWAS in a Southern European population and by these means we were able to identify two new susceptibility variants at 1p33 and 8p12 loci. These two SNPs are located near the SLC5A9 and DUSP4 loci, respectively, which could be good functional candidates for the association signals. We therefore believe that these two markers constitute good candidates for CRC susceptibility loci and should be further evaluated in other larger datasets. Moreover, we highlight that were these two SNPs true susceptibility variants, they would constitute a decrease in the CRC missing heritability fraction.

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4 p.

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[ES] El trabajo realiza una aproximación a la situación actual de los estudios de ADN antiguo humano en Europa, recopilando los datos de los individuos analizados hasta 2013 (n=700), a modo de síntesis interpretativa continental y regional de los territorios para los cuales se han obtenido resultados significativos (Centroeuropa, Cornisa Cantábrica, Mediterráneo occidental, Escandinavia-Báltico-Rusia y Alpes orientales). Las hipótesis se expresan en términos de continuidad o discontinuidad genética entre los grupos humanos habitantes de un territorio, centradas en la problemática de la neolitización, en una horquilla cronocultural del Paleolítico superior a la Edad del Bronce. Los resultados se resumen en (1) una preponderancia del clado mitocondrial U para muestras preneolíticas; (2) la posibilidad de una intrusión démica en una fase inicial de la neolitización centroeuropea -tipo N1a, con pérdida posterior de ese haplogrupo mitocondrial-; (3) la evidencia del proceso neolitizador como heterogéneo y con diferente impacto a escala regional; (4) una estabilización del acervo genético europeo actual como resultado de eventos postneolíticos; y (5) las posibilidades analíticas de la genética aplicada a las poblaciones antiguas como un instrumento de gran interés, observándose la necesidad de realizar más analíticas con recorrido diacrónico.

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[ES]Esta obra recoge las comunicaciones seleccionadas para el 6º Congreso Europeo sobre Eficiencia Energética y Sostenibilidad en Arquitectura, organizado por el grupo de investigación Calidad de Vida en Arquitectura de la Universidad del País Vasco/Euskal Herriko Unibertsitatea. El congreso, que se celebra en el marco de los XXXIV Cursos de Verano de la UPV/EHU, aborda en esta cuarta edición el tema “Ciudades en riesgo: resiliencia y redundancia”. Alrededor de este tema general se desarrollan cinco ponencias magistrales, a cargo de Margaretha Breil (Centro Euro-Mediterráneo para el Cambio Climático), Cristina Garzillo Leemhuis (ICLEI), Ignasi Fontanals (OptiCits), Juan Carlos Barrios Montenegro (Global Action Plan) y Manuel Valdés López (Ajuntament de Barcelona). Además, 24 comunicaciones seleccionadas por el comité científico presentarán trabajos de investigaciones actuales en las sesiones orales y póster. Es objetivo paralelo del congreso es fortalecer las líneas de investigación en eficiencia energética y sostenibilidad de los grupos de investigación y formación de la UPV/ EHU comprometidos con esta propuesta, con objeto de colaborar en el reforzamiento de la I D i en su ámbito de conocimiento y apoyar la apuesta específica de los Gobiernos Central y Vasco, así como de otras instituciones nacionales e internacionales respecto a las actividades de I D i en las materias relacionadas con el cambio climático, la eficiencia energética y la sostenibilidad ambiental [ENG] This work contains the selected abstracts of the 6th European Conference on Energy Efficiency and Sustainability in Architecture and Planning, organized by the research group Quality of life in Architecture of the University of the Basque Country. The conference is part of the XXXIV Summer Courses of the UPV/EHU and deals, in its fourth edition, with the topic “Cities at risk: resilience and redundancy”. Around this general theme there are five invited speakers: Margaretha Breil (Euro-Mediterranean Centre for Climate Change), Cristina Garzillo Leemhuis (ICLEI), Ignasi Fontanals (OptiCits), Juan Carlos Barrios Montenegro (Global Action Plan) y Manuel Valdés López (Barcelona City Council). 24 abstracts additional have been selected by the scientific committee that offer actual research works in presentations and posters. The purpose of the conferences is to strengthen the investigation lines in energy efficiency and sustainability of the research and education groups of the University of the Basque Country (UPV/EHU) involved, with the purpose of collaborating in the reinforcement of the I D i in its field of knowledge, and support the specific projects of the Central and Basque Governments, as well as other national and international institutions related to the I Di activities in similar fields of climate change, energy efficiency and environmental sustainability.

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Coherent ecological networks (EN) composed of core areas linked by ecological corridors are being developed worldwide with the goal of promoting landscape connectivity and biodiversity conservation. However, empirical assessment of the performance of EN designs is critical to evaluate the utility of these networks to mitigate effects of habitat loss and fragmentation. Landscape genetics provides a particularly valuable framework to address the question of functional connectivity by providing a direct means to investigate the effects of landscape structure on gene flow. The goals of this study are (1) to evaluate the landscape features that drive gene flow of an EN target species (European pine marten), and (2) evaluate the optimality of a regional EN design in providing connectivity for this species within the Basque Country (North Spain). Using partial Mantel tests in a reciprocal causal modeling framework we competed 59 alternative models, including isolation by distance and the regional EN. Our analysis indicated that the regional EN was among the most supported resistance models for the pine marten, but was not the best supported model. Gene flow of pine marten in northern Spain is facilitated by natural vegetation, and is resisted by anthropogenic landcover types and roads. Our results suggest that the regional EN design being implemented in the Basque Country will effectively facilitate gene flow of forest dwelling species at regional scale.

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Recent experimental work in the field of synthetic protocell biology has shown that prebiotic vesicles are able to 'steal' lipids from each other. This phenomenon is driven purely by asymmetries in the physical state or composition of the vesicle membranes, and, when lipid resource is limited, translates directly into competition amongst the vesicles. Such a scenario is interesting from an origins of life perspective because a rudimentary form of cell-level selection emerges. To sharpen intuition about possible mechanisms underlying this behaviour, experimental work must be complemented with theoretical modelling. The aim of this paper is to provide a coarse-grain mathematical model of protocell lipid competition. Our model is capable of reproducing, often quantitatively, results from core experimental papers that reported distinct types vesicle competition. Additionally, we make some predictions untested in the lab, and develop a general numerical method for quickly solving the equilibrium point of a model vesicle population.

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The adaptation of traditional newspapers to new digital media and its interface, far from being a mere technical transformation, has contributed to a gradual change in the media themselves and their audiences. With a sample including the top general information pay newspaper in each of the 28 countries of the European Union, this research has carried out an analysis using 17 indicators divided in 4 categories. The aim is to identify the transformations that the implementation of digital media have brought to the top European newspapers. In general terms, the results show that most dailies have managed to keep their leadership also in online environment. Moreover, an emerging group of global media is growing up, based in preexisting national media. Digital and mobile media have contributed to the appearance of new consumption habits as well, where users read more superficially and sporadically. The audience uses several formats at a time, and digital devices already bring the biggest amount of users to many media. The Internet-created new information windows –search engines, social networks, etc. –are also contributing to the change in professional work routines.

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Background: In the present study we have assessed whether the Carpathian Mountains represent a genetic barrier in East Europe. Therefore, we have analyzed the mtDNA of 128 native individuals of Romania: 62 of them from the North of Romania, and 66 from South Romania. Results: We have analyzed their mtDNA variability in the context of other European and Near Eastern populations through multivariate analyses. The results show that regarding the mtDNA haplogroup and haplotype distributions the Romanian groups living outside the Carpathian range (South Romania) displayed some degree of genetic differentiation compared to those living within the Carpahian range (North Romania). Conclusion: The main differentiation between the mtDNA variability of the groups from North and South Romania can be attributed to the demographic movements from East to West (prehistoric or historic) that differently affected in these regions, suggesting that the Carpathian mountain range represents a weak genetic barrier in South-East Europe.