Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion
Bibliographic record
Abstract
Abstract Objective Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited. This study aimed to provide new data on obesity and metabolic syndrome (MetS) in adults with microdeletion 22q11.2, the pathogenic CNV associated with 22q11.2 deletion syndrome. Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at median age 30.0 (range 17–71) years) and compared these rates with population-based data. Generalized obesity was defined by a body mass index (BMI) ≥ 30 kg/m2, abdominal obesity by a waist circumference (WC) of ≥102 cm in males and ≥88 cm in females, and MetS by standard Joint Interim Statement criteria. General linear models were used to examine the independent associations of age, sex, congenital heart defect, smoking, and antipsychotic use with BMI, WC, and the presence of MetS. Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly higher compared to a population-based cohort (15.7% (P < 0.0001), 36.1% (P = 0.002), and 15.2% (P < 0.0001), respectively). In antipsychotic naïve subjects, significant correlations were observed between age and BMI (r = 0.54, P < 0.001), and age and WC (r = 0.60, P < 0.001). These correlations were not present in individuals taking antipsychotic medication. The models predicting BMI (F(5, 97) = 3.083, R 2 = 0.137, P = 0.01) and WC (F(5, 92) = 5.985, R 2 = 0.245, P < 0.001) were significant. Only age was individually predictive of outcomes (P < 0.05 and P < 0.001). The model predicting MetS was also significant (P < 0.001), with higher age being the only factor associated with MetS (OR = 1.07, 95% CI = 1.03–1.12, P < 0.001). Conclusions Generalized and abdominal obesity, as well as MetS, appear to be common in adults with 22q11.2 deletion syndrome, emphasizing the importance of careful monitoring from a young age. These findings contribute to the limited knowledge about the association between pathogenic CNVs, obesity, and MetS.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".