2026-04-17T06:08:47Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1280232025-12-05T13:18:53Zcom_2072_1057col_2072_478798col_2072_478860col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Maillard, A. M. author Hippolyte, L. author Rodríguez Herreros, Borja author Chawner, S. J. R. A author Dremmel, D. author Agüera, Zaida author Fagundo, Ana Beatriz author Pain, Arnab author Martin-Brevet, S. author Hilbert, A. author Kurz, S. author Etienne, R. author Draganski, B. author Jiménez-Murcia, Susana author Männik, K. author Metspalu, Andres author Reigo, A. author Isidor, B. author Le Caignec, C. author Albert, D. author Mignot, C. author Keren, B. author van den Bree, M. B. M author Munsch, S. author Fernández Aranda, Fernando author Beckmann, J. author Reymond, Alexandre author Jacquemont, S. author 16p11.2 European Consortium author 2019-02-07T10:14:10Z 2019-02-07T10:14:10Z 2016-05-01 2019-02-07T10:14:11Z Background: The 600 kb BP4-BP5 copy number variants (CNVs) at the 16p11.2 locus have been associated with a range of neurodevelopmental conditions including autism spectrum disorders and schizophrenia. The number of genomic copies in this region is inversely correlated with body mass index (BMI): the deletion is associated with a highly penetrant form of obesity (present in 50% of carriers by the age of 7 years and in 70% of adults), and the duplication with being underweight. Mechanisms underlying this energy imbalance remain unknown. Objective: This study aims to investigate eating behavior, cognitive traits and their relationships with BMI in carriers of 16p11.2 CNVs. Methods: We assessed individuals carrying a 16p11.2 deletion or duplication and their intrafamilial controls using food-related behavior questionnaires and cognitive measures. We also compared these carriers with cohorts of individuals presenting with obesity, binge eating disorder or bulimia. Results: Response to satiety is gene dosage-dependent in pediatric CNV carriers. Altered satiety response is present in young deletion carriers before the onset of obesity. It remains altered in adolescent carriers and correlates with obesity. Adult deletion carriers exhibit eating behavior similar to that seen in a cohort of obesity without eating disorders such as bulimia or binge eating. None of the cognitive measures are associated with eating behavior or BMI. Conclusions: These findings suggest that abnormal satiety response is a strong contributor to the energy imbalance in 16p11.2 CNV carriers, and, akin to other genetic forms of obesity, altered satiety responsiveness in children precedes the increase in BMI observed later in adolescence. Obesitat Malalties mentals Obesity Mental illness 16p11.2 locus modulates response to satiety before the onset of obesity