BACKGROUND AND PURPOSE:

• 22q11.2 deletion syndrome (22q11.2DS) affects approximately 1 in 3000 to 4000 live births
  • Manifestations include hypoparathyroidism and hypothyroidism, as well as increased risk of obesity in adults
• Van et al. (E Clinical Medicine, 2020) assessed whether adults with 22q11.2DS have an increased risk of developing type 2 diabetes (T2D)

METHODS:

• Cohort study
• Participants (17 to 69 years)
  • Adults with 22q11.2DS
  • Adults in the general population
• Exposures
  • 22q11.2DS
• Study design
  • T2D diagnosis: Based on history and glycosylated hemoglobin (HbA1c)
  • Logistic regression models applied to account for covariates including
    • Age | Sex | Non-European ethnicity | Fmily history of T2D | Obesity | Antipsychotic medication use
• Primary outcome
  • Risk of T2D

RESULTS:

• 314 individuals in the 22q11.2DS cohort | 11,874 individuals in a general population cohort
  • Higher BMI and a greater proportion of antipsychotic medications were identified in the 22q11.2DS group vs a population sample (p < 0.0001)
• 22q11.2DS was a significant independent risk factor for T2D (P<0.0001)
  • OR 2.44 (95% CI, 1.39 to 4.31)
• Other factors exhibited significant effects, especially non-European ethnicity
• Median age at diagnosis of T2D was significantly younger in the 22q11.2DS cohort than in the general population (P<0.0001)
  • 22q11.2DS: 32 years
  • General population: 50 years
• HbA1c was significantly higher in the 22q11.2DS cohort even in those individuals not meeting criteria for T2D diagnosis (P=0.042)

CONCLUSION:

• 22q11.2DS is an independent risk factor for T2D
• The results of this study add to a growing body of evidence that rare CNVs may contribute to risk for T2D
• The authors state

The results allow for screening, anticipatory care, and prevention of T2D for those with known 22q11.2DS

Future research to investigate management of T2D and risk for T2D in this newly identified high-risk population will provide immediately translatable results

Learn More – Primary Sources:

22q11.2 microdeletion and increased risk for type 2 diabetes

Related ObG Topics:

22q11.2 Deletion Syndrome – Key Clinical Highlights

22q11.2 Deletion Syndrome: Long-Term Mortality Risks and Outcomes

Are CNVs Associated with Miscarriage?