44 research outputs found

    Meta-analysis of genome-wide association studies for extraversion:Findings from the Genetics of Personality Consortium

    Get PDF
    Extraversion is a relatively stable and heritable personality trait associated with numerous psychosocial, lifestyle and health outcomes. Despite its substantial heritability, no genetic variants have been detected in previous genome-wide association (GWA) studies, which may be due to relatively small sample sizes of those studies. Here, we report on a large meta-analysis of GWA studies for extraversion in 63,030 subjects in 29 cohorts. Extraversion item data from multiple personality inventories were harmonized across inventories and cohorts. No genome-wide significant associations were found at the single nucleotide polymorphism (SNP) level but there was one significant hit at the gene level for a long non-coding RNA site (LOC101928162). Genome-wide complex trait analysis in two large cohorts showed that the additive variance explained by common SNPs was not significantly different from zero, but polygenic risk scores, weighted using linkage information, significantly predicted extraversion scores in an independent cohort. These results show that extraversion is a highly polygenic personality trait, with an architecture possibly different from other complex human traits, including other personality traits. Future studies are required to further determine which genetic variants, by what modes of gene action, constitute the heritable nature of extraversion

    Towards Individualized Prediction of Response to Methotrexate in Early Rheumatoid Arthritis: a Pharmacogenomics-driven Machine Learning Approach

    No full text
    Objective To test the ability of machine learning (ML) approaches with clinical and genomic biomarkers to predict methotrexate treatment response in patients with early rheumatoid arthritis (RA). Methods Demographic, clinical and genomic data from 643 patients of European ancestry with early RA (mean age 54 years; 70% female) subdivided into a training (n=336) and validation cohort (n=307) were used. The genomic data comprised 160 single nucleotide polymorphisms (SNPs) previously associated with RA or methotrexate metabolism. Response to methotrexate monotherapy was defined as good or moderate by the European League Against Rheumatism (EULAR) response criteria at 3-month follow-up. Supervised ML methods were trained with 5-repeats and 10-fold cross-validation using the training cohort. Prediction performance was validated in the independent validation cohort. Results Supervised ML methods combining age, sex, smoking, rheumatoid factor, baseline Disease Activity Score with 28-joint count (DAS28) and 160 SNPs predicted EULAR response at 3 months with the area under the receiver operating curve of 0.84 (p=0.05) in the training cohort and achieved a prediction accuracy of 76% (p=0.05) in the validation cohort (sensitivity 72%, specificity 77%). Intergenic SNPs rs12446816, rs13385025, rs113798271, and ATIC (rs2372536) had variable importance above 60.0 and along with baseline DAS28 were among the top predictors of methotrexate response. Conclusion Pharmacogenomic biomarkers combined with baseline DAS28 can be useful in predicting response to methotrexate in patients with early RA. Applying ML to predict treatment response holds promise for guiding effective RA treatment choices, including timely escalation of RA therapies

    A New design for urban gardens: being framed in the green infrastructure

    No full text
    International audienceGreen infrastructure and urban gardens seem to have an intertwined destiny, biodiversity constituting for both of them a new order that guides their legitimization, their inscription in the urban space, the modalities of their organization and management. How do gardens, and urban agriculture in general, contribute to biodiversity in cities and are integrated into the development of the green infrastructure for that specific matter? How are they taken into account in the planning of such infrastructures, in the discourses and design of the latter? How, finally, do they become an element of the discourses and the awareness of the inhabitants about the question of the green infrastructure and could constitute elements of anchoring of the policy to associate/sensitize the citizens to this urban project? By varying the focal length and observation scales of the green infrastructure, from a bird eye view to a ground view (worm view), we will see in this chapter how urban gardens are integrated into the design, political and ideological objectives of green infrastructures as well as into the practices of city dwellers in relation to biodiversity through various European examples
    corecore