ArticleFrontiers in genetics2026
Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Children with complex genetic diseases increasingly survive to adulthood, but adult health is poorly understood. Using a genetics-first approach we investigated the incidence and accrual of cardiovascular and other outcomes in people with molecularly confirmed 22q11.2 microdeletion (22q-cases) compared with general population controls (population-comparators). Methods: Using a retrospective matched cohort study design, we linked 365 adult 22q-cases (median age 32 years; 51% female) to health administrative data for ∼15 million individuals with universal healthcare, identifying 3,650 well-matched population-comparators. We used Poisson regression to estimate incidence rate ratios (IRRs) and 95% CI for five cardiovascular/risk conditions and other outcomes, and recurrent event modelling to assess their relative rate (RR) of accrual over a median 28 years of retrospective and prospective health data. Results: Accrual of cardiovascular conditions occurred at a significantly greater relative rate (RR) in 22q-cases than population-comparators (RR 3.8, 95% CI 2.9-4.8; median ages 32, 31), even when restricting to 22q-cases with neither major congenital heart disease (CHD) nor schizophrenia (RR 3.6, 95% CI 2.4-5.4). Incidence was significantly greater in 22q-cases for hypertension and diabetes by age 18-24 (IRR 2.98, 95% CI 1.45-6.14; IRR 3.21, 95% CI 1.42-7.24, respectively), and by age 35-44 for heart failure. Other outcomes also showed increasing trajectories over young adult years in the 22q-case group, e.g., kidney disease, chronic obstructive pulmonary disease, healthcare resource use, and hospitalizations, including for individuals with neither CHD nor schizophrenia. Conclusion: A population-based approach provided new evidence for accumulating illnesses over young adulthood, supporting the need for novel models of anticipatory care for adults with 22q11.2 microdeletion. A similar genetics-first strategy, defining cohorts with shared genetic changes, may facilitate understanding of premature aging mechanisms relevant to the general population.
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