Obesity in adults with 22q11.2 deletion syndrome

Genet Med. 2017 Feb;19(2):204-208. doi: 10.1038/gim.2016.98. Epub 2016 Aug 18.


Purpose: To 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.

Methods: In 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.

Results: The 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).

Conclusion: The 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Body Mass Index
  • Canada
  • DNA Copy Number Variations / genetics
  • DiGeorge Syndrome / complications
  • DiGeorge Syndrome / epidemiology*
  • DiGeorge Syndrome / genetics*
  • DiGeorge Syndrome / physiopathology
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / epidemiology
  • Diabetes Mellitus, Type 2 / genetics
  • Diabetes Mellitus, Type 2 / physiopathology
  • Female
  • Humans
  • Logistic Models
  • Male
  • Middle Aged
  • Obesity / complications
  • Obesity / epidemiology*
  • Obesity / genetics*
  • Obesity / physiopathology
  • Phenotype
  • Psychotropic Drugs / adverse effects


  • Psychotropic Drugs