Hypertriglyceridemia in young adults with a 22q11.2 microdeletion

Area of Science:

• Genetics
• Metabolic Disorders
• Human Health

Background:

• Mild to moderate hypertriglyceridemia is prevalent, associated with obesity and diabetes, but its genetic basis is not fully understood.
• The 22q11.2 microdeletion is linked to various health issues, including obesity and diabetes.
• The relationship between the 22q11.2 microdeletion and hypertriglyceridemia requires further investigation.

Purpose of the Study:

• To determine if the 22q11.2 microdeletion is associated with mild to moderate hypertriglyceridemia.
• To identify predictors of hypertriglyceridemia in a cohort including individuals with and without the 22q11.2 microdeletion.

Main Methods:

• A cohort study compared 6793 general adults with 267 individuals with the 22q11.2 microdeletion (ages 17-69).
• Participants with diabetes or on statins were excluded.
• Binomial logistic regression analysis was used to identify predictors, including the 22q11.2 microdeletion, sex, BMI, ethnicity, age, and antipsychotic use.

Main Results:

• The 22q11.2 microdeletion was a significant independent predictor of hypertriglyceridemia (OR: 2.35).
• Male sex and BMI were significant predictors within the 22q11.2 microdeletion subgroup.
• Other factors like sex, BMI, ethnicity, and age were also significant predictors, except for antipsychotic medication use.

Conclusions:

• The 22q11.2 microdeletion is associated with hypertriglyceridemia, independent of other known risk factors.
• This association is observed in young adults and without diabetes or antipsychotic use.
• The 22q11.2 microdeletion may be an unrecognized genetic risk factor for hypertriglyceridemia, warranting early screening and management strategies for affected individuals.