ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Obesity in adults with 22q11.2 deletion syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Prioritizing Clinically Relevant Criteria for Longitudinal Obesity Management: A Systemic Framework to Support Decision-Making.Obesity surgery · 2026Pooled it
- Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review.American journal of medical genetics. Part A · 2019Pooled it
- Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank.American journal of human genetics · 2026Article
- Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context.Frontiers in genetics · 2026Article
- Parental Education Predicts Longitudinal IQ Trajectories in 22q11.2 Deletion Syndrome: A Three-Cohort European Study.Journal of intellectual disability research : JIDR · 2025Article
- Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion.Journal of the Endocrine Society · 2025Article
- Adipocyte CLDN5 promotes thermogenesis and energy expenditure through regulation of IL10 expression.Nature communications · 2025Article
- Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion.International journal of obesity (2005) · 2025Article
- DGCR2 targeting affibody molecules for delivery of drugs and imaging reagents to human beta cells.Scientific reports · 2025Article
- Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions.Frontiers in psychiatry · 2025Article
- Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study.Journal of endocrinological investigation · 2024Article
- Systemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature.Central-European journal of immunology · 2024Article
- Association between increased BMI and cognitive function in first-episode drug-naïve male schizophrenia.Frontiers in psychiatry · 2024Article
- Preclinical evaluation of Affibody molecule for PET imaging of human pancreatic islets derived from stem cells.EJNMMI research · 2023Article
- Polygenic risk for triglyceride levels in the presence of a high impact rare variant.BMC medical genomics · 2023Article
- Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits.PLoS genetics · 2023Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- The impact of 22q11.2 copy-number variants on human traits in the general population.American journal of human genetics · 2023Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
purposeTo characterize the prevalence of and contributing factors to adult obesity in the most common recurrent copy-number variation (CNV), 22q11.2 deletion, given that other rare CNVs are known to have obesity phenotypes.
methodsIn 207 adults with 22q11.2 deletion syndrome (22q11.2DS), we used available height and weight measurements to calculate body mass index (BMI) and recorded associated factors that could play a role in obesity. We used the maximum BMI per subject and logistic regression to test a model predicting obesity class.
resultsThe prevalence of obesity (BMI ≥30) in 22q11.2DS (n = 90, 43.5%; at median age of 26.7 years) was significantly greater than for Canadian norms (odds ratio (OR) 2.30, 95% confidence interval (CI) = 1.74-3.02, P < 0.0001), even after excluding individuals with a history of antipsychotic use. The regression model was significant (P < 0.0001). Psychotropic medication use and age, but not sex or presence of intellectual disability, were associated with higher obesity level. Ten (4.8%) individuals were diagnosed with type 2 diabetes at a median age of 39.5 years; the prevalence was higher in those with obesity (P < 0.01).
conclusionThe results suggest that adult obesity is related to the 22q11.2 deletion. The findings expand the potential genetic causes of obesity and have important implications for management of 22q11.2DS.Genet Med 19 2, 204-208.
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