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16p11.2 Locus modulates response to satiety before the onset of obesity

Maillard, A. M., Hippolyte, L., Rodriguez-Herreros, B., Chawner, Samuel, Dremmel, D., Agüera, Z., Fagundo, A.B., Pain, A., Martin-Brevet, S., Hilbert, A., Kurz, S., Etienne, R., Draganski, B., Jimenez-Murcia, S., Männik, K., Metspalu, A., Reigo, A., Isidor, B., Le Caignec, C., David, A., Mignot, C., Keren, B., Van Den Bree, Marianne Bernadette, Munsch, S., Fernandez-Aranda, F., Beckmann, J. S., Reymond, A. and Jacquemont, S. 2015. 16p11.2 Locus modulates response to satiety before the onset of obesity. International Journal of Obesity 40 (5) , pp. 870-876. 10.1038/ijo.2015.247

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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.

Item Type: Article
Date Type: Published Online
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Nature Publishing Group
ISSN: 0307-0565
Date of First Compliant Deposit: 7 March 2018
Last Modified: 25 Apr 2018 23:33

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