Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes

There is great phenotypic heterogeneity within autism spectrum disorders (ASD), which has led to question their classification into a single diagnostic category. The study of the common genetic variation in ASD has suggested a greater contribution of other psychiatric conditions in Asperger syndrome (AS) than in the rest of the DSM-IV ASD subtypes (Non_AS). Here, using available genetic data from previously performed genome-wide association studies (GWAS), we aimed to study the genetic overlap between five of the most related disorders (schizophrenia (SCZ), major depression disorder (MDD), attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorders (OCD) and anxiety (ANX)), and AS, comparing it with the overlap in Non_AS subtypes. A Spanish cohort of autism trios (N = 371) was exome sequenced as part of the Autism Sequencing Consortium (ASC) and 241 trios were extensively characterized to be diagnosed with AS following DSM-IV and Gillberg's criteria (N = 39) or not (N = 202). Following exome imputation, polygenic risk scores (PRS) were calculated for ASD, SCZ, ADHD, MDD, ANX, and OCD (from available summary data from Psychiatric Genomic Consortium (PGC) repository) in the Spanish trios' cohort. By using polygenic transmission disequilibrium test (pTDT), we reported that risk for SCZ (Pscz = 0.008, corrected-PSCZ = 0.0409), ADHD (PADHD = 0.021, corrected-PADHD = 0.0301), and MDD (PMDD = 0.039, corrected-PMDD = 0.0501) is over-transmitted to children with AS but not to Non_AS. Indeed, agnostic clustering procedure with deviation values from pTDT tests suggested two differentiated clusters of subjects, one of which is significantly enriched in AS (P = 0.025). Subsequent analysis with S-Predixcan, a recently developed software to predict gene expression from genotype data, revealed a clear pattern of correlation between cortical gene expression in ADHD and AS (P < 0.001) and a similar strong correlation pattern between MDD and AS, but also extendable to another non-brain tissue such as lung (P < 0.001). Altogether, these results support the idea of AS being qualitatively distinct from Non_AS autism and consistently evidence the genetic overlap between AS and ADHD, MDD, or SCZ

Variaci?n en resistencia de cedro (Cedrela odorata L.) al ataque de Hypsipyla grandella Zeller en Costa Rica

Tesis (M. Sc) -- CATIE, Turrialba (Costa Rica), 1996En el presente estudio fueron analizados dos ensayos de Cedrela odorata establecidos por el Proyecto de Mejoramiento Gen?tico Forestal del CATIE. Uno de los ensayos contiene 10 procedencias y 41 familias, y se encuentra establecido en San Francisco La Palmera, San Carlos, Alajuela. El otro ensayo contiene 3 procedencias y 18 clones, y est? establecido en la finca Cabiria del CATIE, en Turrialba, Cartago. Los objetivos del trabajo fueron: estudiar la variaci?n en resistencia de C. odorata al ataque del barrenador de los brotes (Hypsipyla grandella), en ambos sitios e identificar genotipos de C. odorata que manifiesten resistencia al ataque del barrenador para promover su propagaci?n en una segunda fase de comprobaci?n en el campo. En el ensayo de procedencias y familias, los resultados indicaron mejor crecimiento en altura de la procedencia UPALA, y en general de las procedencias originarias de la zona atl?ntica de Costa Rica (SAN CARLOS, UPALA, GUAPILES y TALAMANCA) sin embargo, presentan una mayor susceptibilidad al ataque del barrenador por tener las mayores frecuencias e intensidades de ataque. Las procedencias y familias de la zona del pac?fico seco de Costa Rica (CA??AS, CARMONA, COBANO Y HOJANCHA), aunque mostraron mayor resistencia al ataque de H. grandella no alcanzaron un crecimiento en altura, comparable al de las procedencias de la zona atl?ntica. En relaci?n al ensayo de clones, la procedencia originaria de TRINIDAD y TOBAGO, presenta el mejor crecimiento en altura sin embargo, muestra una mayor susceptibilidad al ataque de H. grandella, al presentar los valores m?s altos en relaci?n a frecuencia e intensidad de ataques. Entre los genotipos evaluados no se encontraron diferencias en relaci?n a la capacidad de recuperaci?n. En ambos ensayos, solamente un 10 por ciento de los ?rboles present? una recuperaci?n considerada como deseable, caracterizada por la Producci?n de un solo brote dominante, que sustituy? al original, y continu? el crecimiento normal del ?rbol. El 90 por ciento de los ?rboles, mostr? una alta proliferaci?n de brotes como respuesta al ataque, o bien no se recuperaron. La recuperaci?n presentada, debe considerarse como una respuesta preliminar de los genotipos, pues al momento de la evaluaci?n, el ensayo se encontraba bajo un per?odo de intensa actividad de H. grandella. Se recomienda continuar y hacer seguimiento de los dos ensayos, por lo menos durante 3 a?os m?s, per?odo en que se considera que los ?rboles alcanzar?n un mejor desarrollo y podr?n responder mejor al ataque de H. grandella. Asimismo, es importante evaluar los genotipos de cedro bajo condiciones de sitio m?s favorables, que permitan a los ?rboles expresar mejor su potencial

Informe de pr?ctica profesional realizada en Grupo Sacyr

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Factors explaining the regulatory activity of the Spanish Autonomous Communities (1989 – 2001)

The aim of this paper is to explain the regulatory activity of the Autonomous Communities (Spanish regional governments) between 1989 and 2001, employing the methodological framework provided by the economic theory of regulation. To this end, a ‘model of regulatory demand’ and a ‘model of regulatory supply’ are specified and estimated for the seventeen Autonomous Communities over this period. The results of these estimations show that for the fields of institutional and economic regulation the behaviour of the Autonomous Communities between 1989 and 2001 may be explained by a complementary set of supply and demand factors: financial, political, and institutional factors on the supply side, and the heterogeneity of preferences and the role of interest groups on the demand side. However, with respect to total regulation and social regulation, supply factors outweigh demand factors in the explanation of regional regulatory production.