{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T11:15:00Z","timestamp":1771931700963,"version":"3.50.1"},"reference-count":42,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T00:00:00Z","timestamp":1770940800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>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).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Using a retrospective matched cohort study design, we linked 365 adult 22q-cases (median age 32 years; 51% female) to health administrative data for \u223c15 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>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\u20134.8; 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\u20135.4). Incidence was significantly greater in 22q-cases for hypertension and diabetes by age 18\u201324 (IRR 2.98, 95% CI 1.45\u20136.14; IRR 3.21, 95% CI 1.42\u20137.24, respectively), and by age 35\u201344 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1737027","type":"journal-article","created":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T22:10:13Z","timestamp":1770934213000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context"],"prefix":"10.3389","volume":"17","author":[{"given":"Sarah L.","family":"Malecki","sequence":"first","affiliation":[{"name":"General Internal Medicine Fellowship Program, University of Toronto","place":["Toronto, ON, Canada"]},{"name":"Institute of Health, Policy Management and Evaluation, University of Toronto","place":["Toronto, ON, Canada"]},{"name":"Child Health Evaluative Sciences and Department of Pediatrics, The Hospital for Sick Children","place":["Toronto, ON, Canada"]},{"name":"Clinical Genetics Research Program, Centre for Addiction and Mental Health","place":["Toronto, ON, Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tracy","family":"Heung","sequence":"additional","affiliation":[{"name":"Clinical Genetics Research Program, Centre for Addiction and Mental Health","place":["Toronto, ON, Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Morais","sequence":"additional","affiliation":[{"name":"ICES","place":["Toronto, ON, Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Refik","family":"Saskin","sequence":"additional","affiliation":[{"name":"ICES","place":["Toronto, ON, Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Drew","family":"Wilton","sequence":"additional","affiliation":[{"name":"ICES","place":["Toronto, ON, Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Therese A.","family":"Stukel","sequence":"additional","affiliation":[{"name":"Institute of Health, Policy Management and Evaluation, University of Toronto","place":["Toronto, ON, Canada"]},{"name":"ICES","place":["Toronto, ON, Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eyal","family":"Cohen","sequence":"additional","affiliation":[{"name":"Institute of Health, Policy Management and Evaluation, University of Toronto","place":["Toronto, ON, Canada"]},{"name":"Child Health Evaluative Sciences and Department of Pediatrics, The Hospital for Sick Children","place":["Toronto, ON, Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amol A.","family":"Verma","sequence":"additional","affiliation":[{"name":"Institute of Health, Policy Management and Evaluation, University of Toronto","place":["Toronto, ON, Canada"]},{"name":"Li Ka Shing Knowledge Institute & Department of Medicine, St Michael\u2019s Hospital, University of Toronto","place":["Toronto, ON, Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne S.","family":"Bassett","sequence":"additional","affiliation":[{"name":"Clinical Genetics Research Program, Centre for Addiction and Mental Health","place":["Toronto, ON, Canada"]},{"name":"Department of Psychiatry, University of Toronto","place":["Toronto, ON, Canada"]},{"name":"Dalglish Family 22q Clinic, Division of Cardiology, & Toronto General Hospital Research Institute, University Health Network","place":["Toronto, ON, Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,13]]},"reference":[{"key":"B1","doi-asserted-by":"crossref","DOI":"10.1007\/978-1-4612-4348-9","volume-title":"Statistical models based on counting processes","author":"Andersen","year":"1993"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1080\/03610910902859574","article-title":"Using the standardized difference to compare the prevalence of a binary variable between two groups in observational research","volume":"38","author":"Austin","year":"2009","journal-title":"Commun. 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