32 research outputs found

    Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation

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    Publisher Copyright: © 2022 The AuthorsBackground: Among children, sex-specific differences in disease prevalence, age of onset, and susceptibility have been observed in health conditions including asthma, immune response, metabolic health, some pediatric and adult cancers, and psychiatric disorders. Epigenetic modifications such as DNA methylation may play a role in the sexual differences observed in diseases and other physiological traits. Methods: We performed a meta-analysis of the association of sex and cord blood DNA methylation at over 450,000 CpG sites in 8438 newborns from 17 cohorts participating in the Pregnancy And Childhood Epigenetics (PACE) Consortium. We also examined associations of child sex with DNA methylation in older children ages 5.5–10 years from 8 cohorts (n = 4268). Results: In newborn blood, sex was associated at Bonferroni level significance with differences in DNA methylation at 46,979 autosomal CpG sites (p < 1.3 × 10−7) after adjusting for white blood cell proportions and batch. Most of those sites had lower methylation levels in males than in females. Of the differentially methylated CpG sites identified in newborn blood, 68% (31,727) met look-up level significance (p < 1.1 × 10−6) in older children and had methylation differences in the same direction. Conclusions: This is a large-scale meta-analysis examining sex differences in DNA methylation in newborns and older children. Expanding upon previous studies, we replicated previous findings and identified additional autosomal sites with sex-specific differences in DNA methylation. Differentially methylated sites were enriched in genes involved in cancer, psychiatric disorders, and cardiovascular phenotypes.Peer reviewe

    Determinants of gut microbiota in 7-year old children from INMA birth cohort: a pilot study

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    Curs 2016-2017Introduction: Gut microbiota plays an important role in humans. Its composition changes from birth to adulthood. Type of delivery, antibiotics use, diet, obesity, and host genetics, among others have been associated with gut bacterial composition. However, associations are not conclusive and not many studies have evaluated these factors in childhood. Objective: To evaluate the association of several factors with gut microbiota composition in 7-year children from the INfancia y Medio Ambiente (INMA) project. Methods: 154 stool samples were collected at the age of 7-years and gut composition assessed with the 16S rDNA method. The association between 14 factors and alpha and beta diversity was evaluated. We also performed a differential analysis for each taxon in respect to each factor. Multiple testing was controlled with the False Discovery Method (FDR). Results: Gut microbiota was heterogeneous among children, being Bacteroidetes and Firmicutes the more prevalent phyla. Higher number of siblings, consistent with lower maternal education, was robustly associated with higher alpha diversity. Mode of delivery was associated with overall gut diversity (Bray-Curtis dissimilarity). Overweight/obese had higher evenness and higher levels of Firmicutes. Fucosyltransferase 2 (FUT2) non-secretor children (rs601338 sese genotype) had higher evenness and higher levels of Rhodospirillales, Lachnospiraceae and Roseburia. Conclusions: As in adults, gut microbiota in 7-year children was heterogeneous and dominated by Bacteroidetes and Firmicutes. Determinants explained a small proportion of the gut bacterial composition.Director/a: Mariona Bustamante Co-director/a: Lea Maitre Avalador/a: Josep M. Serra

    La mar de Pals

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    Obra artística arquitectònica amb el títol: "La mar de Pals", guanyadora de el concurs HABITACOLA 2020 que tenia com a lema "Habitar la platja". Premi inclòs dins dels premis FAD (Foment de les Arts i de el Disseny)

    Habitar la platja: XXXII premis Habitàcola

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    Primer premiPeer ReviewedAward-winningObjectius de Desenvolupament Sostenible::2 - Fam zeroObjectius de Desenvolupament Sostenible::4 - Educació de QualitatObjectius de Desenvolupament Sostenible::5 - Igualtat de GènerePostprint (published version

    Comprehensive Volatilome and Metabolome Signatures of Colorectal Cancer in Urine: A Systematic Review and Meta-Analysis

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    To increase compliance with colorectal cancer screening programs and to reduce the recommended screening age, cheaper and easy non-invasiveness alternatives to the fecal immunochemical test should be provided. Following the PRISMA procedure of studies that evaluated the metabolome and volatilome signatures of colorectal cancer in human urine samples, an exhaustive search in PubMed, Web of Science, and Scopus found 28 studies that met the required criteria. There were no restrictions on the query for the type of study, leading to not only colorectal cancer samples versus control comparison but also polyps versus control and prospective studies of surgical effects, CRC staging and comparisons of CRC with other cancers. With this systematic review, we identified up to 244 compounds in urine samples (3 shared compounds between the volatilome and metabolome), and 10 of them were relevant in more than three articles. In the meta-analysis, nine studies met the criteria for inclusion, and the results combining the case-control and the pre-/post-surgery groups, eleven compounds were found to be relevant. Four upregulated metabolites were identified, 3-hydroxybutyric acid, L-dopa, L-histidinol, and N1, N12-diacetylspermine and seven downregulated compounds were identified, pyruvic acid, hydroquinone, tartaric acid, and hippuric acid as metabolites and butyraldehyde, ether, and 1,1,6-trimethyl-1,2-dihydronaphthalene as volatiles

    Dataset of "A Metabolites Merging Strategy (MMS): Harmonization to enable studies intercomparison"

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    &lt;p&gt;Metabolomics encounters challenges in cross-study comparisons due to diverse metabolite nomenclature and reporting practices. To bridge this gap, we introduce the Metabolites Merging Strategy (MMS), offering a systematic framework to harmonize multiple metabolite datasets for enhanced interstudy comparability. MMS has three steps. Step 1: Translation and merging of the different datasets by employing InChIKeys for data integration, encompassing the translation of metabolite names (if needed). Followed by Step 2: Attributes' retrieval from the InChIkey, including descriptors of name (title name from PubChem and RefMet name from Metabolomics Workbench), and chemical properties (molecular weight and molecular formula), both systematic (InChI, InChIKey, SMILES) and non-systematic identifiers (PubChem, CheBI, HMDB, KEGG, LipidMaps, DrugBank, Bin ID and CAS number), and their ontology. Finally, a meticulous three-step curation process is used to rectify disparities for conjugated base/acid compounds (optional step), missing attributes, and synonym checking (duplicated information). The MMS procedure is exemplified through a case study of urinary asthma metabolites, where MMS facilitated the identification of significant pathways hidden when no dataset merging strategy was followed. This study highlights the need for standardized and unified metabolite datasets to enhance the reproducibility and comparability of metabolomics studies.&lt;/p&gt

    Analysis of DNA methylation at birth and in childhood reveals changes associated with season of birth and latitude

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    Background: Seasonal variations in environmental exposures at birth or during gestation are associated with numerous adult traits and health outcomes later in life. Whether DNA methylation (DNAm) plays a role in the molecular mechanisms underlying the associations between birth season and lifelong phenotypes remains unclear. Methods: We carried out epigenome-wide meta-analyses within the Pregnancy And Childhood Epigenetic Consortium to identify associations of DNAm with birth season, both at differentially methylated probes (DMPs) and regions (DMRs). Associations were examined at two time points: at birth (21 cohorts, N = 9358) and in children aged 1-11 years (12 cohorts, N = 3610). We conducted meta-analyses to assess the impact of latitude on birth season-specific associations at both time points. Results: We identified associations between birth season and DNAm (False Discovery Rate-adjusted p values < 0.05) at two CpGs at birth (winter-born) and four in the childhood (summer-born) analyses when compared to children born in autumn. Furthermore, we identified twenty-six differentially methylated regions (DMR) at birth (winter-born: 8, spring-born: 15, summer-born: 3) and thirty-two in childhood (winter-born: 12, spring and summer: 10 each) meta-analyses with few overlapping DMRs between the birth seasons or the two time points. The DMRs were associated with genes of known functions in tumorigenesis, psychiatric/neurological disorders, inflammation, or immunity, amongst others. Latitude-stratified meta-analyses [higher (≥ 50°N), lower (< 50°N, northern hemisphere only)] revealed differences in associations between birth season and DNAm by birth latitude. DMR analysis implicated genes with previously reported links to schizophrenia (LAX1), skin disorders (PSORS1C, LTB4R), and airway inflammation including asthma (LTB4R), present only at birth in the higher latitudes (≥ 50°N). Conclusions: In this large epigenome-wide meta-analysis study, we provide evidence for (i) associations between DNAm and season of birth that are unique for the seasons of the year (temporal effect) and (ii) latitude-dependent variations in the seasonal associations (spatial effect). DNAm could play a role in the molecular mechanisms underlying the effect of birth season on adult health outcomes
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