ArticleEating and weight disorders : EWD2020
De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa.
Article in Eating and weight disorders : EWD, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Genome-wide meta-analysis, functional genomics and integrative analyses implicate new risk genes and therapeutic targets for anxiety disorders.Nature human behaviour · 2024Pooled it
- Genetics of Anorexia Nervosa: Translation to Future Personalized Therapies.The Psychiatric clinics of North America · 2025Review
- Gene variants in eating disorders. Focus on anorexia nervosa, bulimia nervosa, and binge-eating disorder.Journal of preventive medicine and hygiene · 2022Review
- Protein tyrosine phosphatase receptor δ serves as the orexigenic asprosin receptor.Cell metabolism · 2022Article
- Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.Molecular genetics & genomic medicine · 2020Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
purposeAnorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. Up to now, four genome-wide association studies of AN have been conducted to date and identified only few significant loci. However, both previous studies focused on common variation and on rare exonic variants. Currently, de novo variants are one of the most significant risk factors for neurodevelopmental disorders and psychiatric disorders.
methodsWe analyzed by whole exome sequencing a cohort of nine female AN individuals and their parents (mother and father), and focused our analysis on de novo variants.
resultsHere, we found seven de novo missense variants in potential genes in nine studied AN patients. Four of these genes (CSMD1, CREB3, PTPRD and GAB1) belong to a same signaling pathway involving neuron differentiation and dopamine pathway.
conclusionsThis study provides a list of interesting genes such as CSDM1 and CREB3 that are candidates to be involved in the etiology of anorexia nervosa. LEVEL OF EVIDENCE: basic research.
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Registered trials
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