{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T19:45:04Z","timestamp":1778010304903,"version":"3.51.4"},"reference-count":37,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2025,6,28]],"date-time":"2025-06-28T00:00:00Z","timestamp":1751068800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-169161"],"award-info":[{"award-number":["PJT-169161"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-148924"],"award-info":[{"award-number":["PJT-148924"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009663","name":"University Health Network","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003579","name":"University of Toronto","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003579","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["U01MH0101720"],"award-info":[{"award-number":["U01MH0101720"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"name":"McLaughlin Centre Accelerator"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Elevated a priori risk may enhance the likelihood that common variant effects, captured collectively in a polygenic risk score (PRS), approach clinical utility.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>In this study, we investigated the modifying effect of PRSs for adult height and body mass index (BMI) in individuals with elevated baseline risk for short stature (&amp;lt;3rd percentile height) and obesity (BMI \u226530) conferred by a 22q11.2 microdeletion.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We tested height-PRS and BMI-PRS for association with their respective phenotypes in 259 adults of European ancestry with a 22q11.2 microdeletion using sequencing data and multivariable linear regression models to account for clinical\/demographic variables.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In multivariable linear regression models, height-PRS and BMI-PRS explained 25.8% and 5.7% of the variance in their respective traits (P &amp;lt; .001 for both). When applying the height-PRS to stratify risk for short stature, 42.3% of individuals in the lowest PRS quintile had short stature (vs 5.9% in the highest PRS quintile, odds ratio = 11.46, P = 1.74E-05). Using logistic regression models to predict short stature in a receiver operating characteristic curve analysis, a model combining height-PRS and clinical\/demographic covariates achieved an area under the curve of 0.78, performing significantly better than a covariate-only model.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The results demonstrate that adult height and BMI can be influenced by the effects of genome-wide common variants in the presence of a rare variant conferring elevated a priori risk. Height-PRS may help refine growth expectations in individuals with 22q11.2 microdeletion.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jendso\/bvaf115","type":"journal-article","created":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T07:58:36Z","timestamp":1751011116000},"source":"Crossref","is-referenced-by-count":3,"title":["Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion"],"prefix":"10.1210","volume":"9","author":[{"given":"Shengjie","family":"Ying","sequence":"first","affiliation":[{"name":"Schulich School of Medicine and Dentistry, Western University , London, ON N6A 5C1 ,","place":["Canada"]},{"name":"Centre for Addiction and Mental Health Clinical Genetics Research Program, , Toronto, ON M5T 1R8 ,","place":["Canada"]},{"name":"University Health Network The Dalglish Family 22q Clinic, , Toronto, ON M5G 2C4 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C","family":"Yuen","sequence":"additional","affiliation":[{"name":"Genetics & Genome Biology, the Hospital for Sick Children, and Department of Molecular Genetics, University of Toronto , Toronto, ON M5G 1E8 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3094-3129","authenticated-orcid":false,"given":"Anne S","family":"Bassett","sequence":"additional","affiliation":[{"name":"Centre for Addiction and Mental Health Clinical Genetics Research Program, , Toronto, ON M5T 1R8 ,","place":["Canada"]},{"name":"University Health Network The Dalglish Family 22q Clinic, , Toronto, ON M5G 2C4 ,","place":["Canada"]},{"name":"Department of Psychiatry, University of Toronto, Toronto General Hospital Research Institute, and Campbell Family Mental Health Research Institute , Toronto, ON M5G 2M9 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