ArticleEClinicalMedicine2020
22q11.2 microdeletion and increased risk for type 2 diabetes.
Article in EClinicalMedicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.American journal of medical genetics. Part A · 2022Pooled 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
- 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
- Understanding obesity in children with 22q11.2 deletion syndrome.Frontiers in endocrinology · 2025Article
- 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
- Preclinical evaluation of Affibody molecule for PET imaging of human pancreatic islets derived from stem cells.EJNMMI research · 2023Article
- Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot.CJC pediatric and congenital heart disease · 2023Review
- Polygenic risk for triglyceride levels in the presence of a high impact rare variant.BMC medical genomics · 2023Article
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Article
- Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.BMC endocrine disorders · 2022Review
- Article
- Clinical management of psychosis in 22q11.2 deletion syndrome.Journal of psychiatry & neuroscience : JPNArticle
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 22q11.2 microdeletion is the pathogenic copy number variation (CNV) associated with 22q11.2 deletion syndrome (22q11.2DS, formerly known as DiGeorge syndrome). Familiar endocrinological manifestations include hypoparathyroidism and hypothyroidism, with recent elucidation of elevated risk for obesity in adults. In this study, we aimed to determine whether adults with 22q11.2DS have an increased risk of developing type 2 diabetes (T2D).
methodsWe studied the effect of the 22q11.2 microdeletion on risk for T2D, defined by history and glycosylated hemoglobin (HbA1c), using weighted survey data from the adult Canadian population (based on
findingsThe 22q11.2 microdeletion was a significant independent risk factor for T2D (OR 2·44, 95% CI 1·39-4·31), accounting for other factors (
interpretationThe results support the 22q11.2 microdeletion as a novel independent risk factor and potential model for early onset T2D. The findings complement emerging evidence that rare CNVs may contribute to risk for T2D. The results have implications for precision medicine and research into the underlying pathogenesis of T2D.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.