Analysis of the common genetic component of large-vessel vasculitides through a meta- Immunochip strategy

Giant cell arteritis (GCA) and Takayasu's arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P?=?7.54E-07; ORGCA?=?1.19, ORTAK?=?1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA?=?5.52E-04, ORGCA?=?1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus

A genome-wide association study identifies risk alleles in plasminogen and P4HA2 associated with giant cell arteritis

Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analysed in 2,134 cases and 9,125 unaffected controls from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, P = 1.94E-54, per-allele OR = 1.79; and rs9275592, P = 1.14E-40, OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, P = 1.23E-10, OR = 1.28; and rs128738, P = 4.60E-09, OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis

Coastal Sea Level Monitoring in the Mediterranean and Black Seas

Spanning over a century, a traditional way to monitor sea level variability by tide gauges is – in combination with modern observational techniques like satellite altimetry – an inevitable ingredient in sea level studies over the climate scales and in coastal seas. The development of the instrumentation, remote data acquisition, processing and archiving in last decades allowed for extending the applications towards a variety of users and coastal hazard managers. The Mediterranean and Black50 seas are an example for such a transition – while having a long tradition for sea level observations with several records spanning over a century, the number of modern tide gauge stations are growing rapidly, with data available both in real-time and as a research product at different time resolutions. As no comprehensive survey of the tide gauge networks has been carried out recently in these basins, the aim of this paper is to map the existing coastal sea level monitoring infrastructures and the respective data availability. The survey encompasses description of major monitoring networks in the Mediterranean and Black55 seas and their characteristics, including the type of sea level sensors, measuring resolutions, data availability and existence of ancillary measurements, altogether collecting information about 236 presently operational tide gauge stations. The availability of the Mediterranean and Black seas sea level data in the global and European sea level repositories has been also screened and classified following their sampling interval and level of quality-check, pointing to the necessity of harmonization of the data available with different metadata and series at different repositories. Finally, an assessment of the networks’ capabilities60 for their usage in different sea level applications has been done, with recommendations that might mitigate the bottlenecks and assure further development of the networks in a coordinated way, being that more necessary in the era of the human-induced climate changes and the sea level ris

Alumnos con Necesidades Educativas Especiales y adaptaciones curriculares

En el anexo, en volúmen aparte, se incluye una propuesta de Documento Individual de Adaptaciones Curriculares (D.I.A.C.). La primera impresión es de 1992Se analizan los cambios educativos introducidos por la LOGSE en la formación de alumnos y alumnas con Necesidades Educativas Especiales (N.E.E.). Se presentan las características de los alumnos con N.E.E. y las respuestas educativas que requieren. Se procede al análisis de la elaboración del Proyecto educativo, del Proyecto curricular de etapa y de la programación de aula para alumnos con N.E.E. Las adaptaciones curriculares se analizan presentando su proceso de elaboración, los criterios de promoción y de adaptación y un documento general para su elaboración.MadridBiblioteca de Educación del Ministerio de Educación, Cultura y Deporte; Calle San Agustín 5 -3 Planta; 28014 Madrid; Tel. +34917748000; [email protected]

La ilusión de la Libertad

El volumen que el lector posee en sus manos (o en su pantalla) constituye una selección de los estudios presentados en el congreso internacional “1820. La Ilusión de la Libertad. El liberalismo revolucionario en España y América en los años veinte”, realizado en Las Cabezas de San Juan y Sevilla en marzo de 2020, como forma de reflexionar (y celebrar, por supuesto) el bicentenario del Trienio Liberal español, atendiendo no sólo a sus implicancias en la Península Ibérica, sino especialmente a su impacto en América. La efeméride funcionó, entonces, como una excusa para analizar problemas relevantes del pasado y el presente. En este caso, los vínculos entre una sociedad estancada, y que ya nada más tenía para ofrecer, y una de las revoluciones más importantes que se desenvolvió a lo largo y ancho de Iberoamérica. Esto se hizo por medio de la presentación de un conjunto de investigaciones que atendieron a los aspectos económicos, políticos, sociales y culturales de la revolución de 1820. Se trató de un esfuerzo colectivo, que esperamos haber plasmado en esta compilación

Erratum: Corrigendum: Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy

Giant cell arteritis (GCA) and Takayasu’s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/ MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; ORGCA = 1.19, ORTAK = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA = 5.52E-04, ORGCA = 1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus

Corrigendum: Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy (Scientific Reports (2017) 7 (43953) DOI: 10.1038/srep43953)

Giant cell arteritis (GCA) and Takayasu\u2019s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/ MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; ORGCA = 1.19, ORTAK = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA = 5.52E-04, ORGCA = 1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus

Involvement of Plant Hormones and Plant Growth Regulators on in vitro Somatic Embryogenesis

In spite of the importance attained by somatic embryogenesis and of the many studies that have been conducted on this developmental process, there are still many aspects that are not fully understood. Among those features, the involvement of plant hormones and plant growth regulators on deTermining the conversion of somatic onto embryogenic tissues, and on allowing progression and maturation of somatic embryos, are far away from being completely comprehended. Part of these difficulties relies on the frequent appearance of contradictory results when studying the effect of a particular stimulus over a specific stage in somatic embryogenesis. Recent progress achieved on understanding the interaction between exogenously added plant growth regulators over the concentration of endogenous hormones, together with the involvement of sensitivity of the tissues to particular hormone groups, might help clarifying the occurrence of divergent patterns in somatic embryogenesis, and in tissue culture in general. The aspects described above, emphasizing on the effect of the concentration of plant hormones and of the addition of plant growth regulators during the different phases of somatic embryogenesis, will be reviewed in this paper. Citations will be limited to review articles as much as possible and to individual articles only in those cases in which very specific or recent information is presented.UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Agroalimentarias::Centro para Investigaciones en Granos y Semillas (CIGRAS