7 research outputs found

    A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

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    J. Kaprio, A. Palotie, A. Raevuori-Helkamaa ja S. Ripatti ovat työryhmän Eating Disorders Working Group of the Psychiatric Genomics Consortium jäseniä. Erratum in: Sci Rep. 2017 Aug 21;7(1):8379, doi: 10.1038/s41598-017-06409-3We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 x 10(-7); OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.Peer reviewe

    Differences in Naturalistic Scene-Viewing in Individuals with Genetic Variations Linked to Autism

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    Gaze Behavior During 360°, Naturalistic Scene-Viewing

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    Active vision in immersive, 360° real-world environments

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    Abstract How do we construct a sense of place in a real-world environment? Real-world environments are actively explored via saccades, head turns, and body movements. Yet, little is known about how humans process real-world scene information during active viewing conditions. Here, we exploited recent developments in virtual reality (VR) and in-headset eye-tracking to test the impact of active vs. passive viewing conditions on gaze behavior while participants explored novel, real-world, 360° scenes. In one condition, participants actively explored 360° photospheres from a first-person perspective via self-directed motion (saccades and head turns). In another condition, photospheres were passively displayed to participants while they were head-restricted. We found that, relative to passive viewers, active viewers displayed increased attention to semantically meaningful scene regions, suggesting more exploratory, information-seeking gaze behavior. We also observed signatures of exploratory behavior in eye movements, such as quicker, more entropic fixations during active as compared with passive viewing conditions. These results show that active viewing influences every aspect of gaze behavior, from the way we move our eyes to what we choose to attend to. Moreover, these results offer key benchmark measurements of gaze behavior in 360°, naturalistic environments

    Proceedings of the OHBM Brainhack 2022

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    International audienceOHBM Brainhack 2022 took place in June 2022. The first hybrid OHBM hackathon, it had an in-person component taking place in Glasgow and three hubs around the globe to improve inclusivity and fit as many timezones as possible. In the buzzing setting of the Queen Margaret Union and of the virtual platform, 23 projects were presented for development. Following are the reports of 14 of those, as well as a recapitulation of the organisation of the event

    Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

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