Diez años de investigación traslacional colaborativa en enfermedades mentales: el CIBERSAM

Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Este es el artículo que se ha publicado de forma definitiva en: https://molecularautism.biomedcentral.com/articles/10.1186/s13229-019-0262-8 En este artículo también participa Joan Climent, Vera Pancaldi, Lourdes Fañanás, Celso Arango, Mara Parellada, Anaïs Baudot, Daniel Vogt, John L. Rubenstein, Alfonso Valencia y Rafael Tabarés-Seisdedos. Background: Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). A significant overlap of genes and biological processes between both diseases has also been reported. Methods: Here, for the first time, we compared the gene expression profiles of ASD frontal cortex tissues and 22 cancer t…

Additional file 1: of Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Table S1. Datasets included in our study. Table S2. Age, gender and pmi distributions between cases and control samples at each step of the preprocessing procedure at the asd defferentail gene expression meta-analysis. Table S3. Final samples included in the asd meta-analysis. Table S4. Jointly same direction derregulated genes in asd ans sddcs and jointly oposite direction derregulated genes in asd and oddcs. Table S5. Genes jointly deregulated in asd and in sddcs and oddcs. Figure S1. Comaprison of differential gene expression analysis using limma with rlog transformed data and two state of the art rnaseq differential expression metdos. Figure S2. Patient overlap in the three asd studies.…

Epigenetic outlier profiles in depression: A genome-wide DNA methylation analysis of monozygotic twins

Recent discoveries highlight the importance of stochastic epigenetic changes, as indexed by epigenetic outlier DNA methylation signatures, as a valuable tool to understand aberrant cell function and subsequent human pathology. There is evidence of such changes in different complex disorders as diverse as cancer, obesity and, to a lesser extent, depression. The current study was aimed at identifying outlying DNA methylation signatures of depressive psychopathology. Here, genome-wide DNA methylation levels were measured (by means of Illumina Infinium HumanMethylation450 Beadchip) in peripheral blood of thirty-four monozygotic twins informative for depressive psychopathology (lifetime DSM-IV d…

Cannabis use in male and female first episode of non-affective psychosis patients: long-term clinical, neuropsychological and functional differences

BACKGROUND: Numerous studies show the existence of a high prevalence of cannabis use among patients with psychosis. However, the differences between men and women who debut with a first episode of psychosis (FEP) regarding cannabis use have not been largely explored. The aim of this study was to identify the specific sex factors and differences in clinical evolution associated with cannabis use. METHOD: Sociodemographic characteristics at baseline were considered in our sample of FEP patients to find differences depending on sex and the use of cannabis. Clinical, functional and neurocognitive variables at baseline, 1-year, and 3-years follow-up were also explored. RESULTS: A total of 549 pa…

Unraveling the relationship of loneliness and isolation in schizophrenia: Polygenic dissection and causal inference

ABSTRACTThere is increasing recognition of the association between loneliness and social isolation (LNL-ISO) with schizophrenia. Here, we demonstrate significant LNL-ISO polygenic score prediction on schizophrenia in an independent case-control sample (N=3,488). We then dissect schizophrenia predisposing variation into subsets of variants based on their effect on LNL-ISO. Genetic variation with concordant effects in both phenotypes show significant SNP-based heritability enrichment, higher polygenic predictive ability in females and positive covariance with other mental disorders such as depression, anxiety, attention-deficit hyperactivity, alcohol use disorder, and autism. Conversely, gene…

Additional file 5: of Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Full differential gene expression meta-analysis results of cancer data. (ZIP 31237 kb)

Additional file 3: of Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Full ASD GSEA pre-ranked enrichment results for different molecular signatures (C2, H, GO_BP, GO_CC, and GO_MF). (XLSX 698 kb)

Additional file 5: of Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Full differential gene expression meta-analysis results of cancer data. (ZIP 31237 kb)

Additional file 3: of Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Full ASD GSEA pre-ranked enrichment results for different molecular signatures (C2, H, GO_BP, GO_CC, and GO_MF). (XLSX 698 kb)

Additional file 4: of Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

gProfileR biological process overrepresentation results of the genes contained in the significant intersections of ASD, SDDCs, and ODDCs. (XLSX 233 kb)

Additional file 2: of Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Full ASD differential gene expression meta-analysis results. (CSV 1387 kb)

Additional file 2: of Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Full ASD differential gene expression meta-analysis results. (CSV 1387 kb)

Additional file 4: of Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

gProfileR biological process overrepresentation results of the genes contained in the significant intersections of ASD, SDDCs, and ODDCs. (XLSX 233 kb)