{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T12:23:33Z","timestamp":1788265413026,"version":"build-2803163510"},"reference-count":46,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","award":["23POST1011251"],"award-info":[{"award-number":["23POST1011251"]}],"id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000862","name":"Doris Duke Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000862","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000738","name":"US Department of Veterans Affairs Biomedical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Development Award","award":["IK2-BX006551"],"award-info":[{"award-number":["IK2-BX006551"]}]},{"DOI":"10.13039\/100000050","name":"NHLBI","doi-asserted-by":"publisher","award":["R01HL109942"],"award-info":[{"award-number":["R01HL109942"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"NHLBI","doi-asserted-by":"publisher","award":["R01HL1699458"],"award-info":[{"award-number":["R01HL1699458"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100021046","name":"John Ritter Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100021046","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Remebrin\u2019 Benjamin Foundation"},{"name":"Regeneron Genetics Center"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>Thoracic aortic aneurysm and dissection (TAAD) can have catastrophic health consequences. Eleven genes have strong or definitive evidence for causing heritable TAAD (HTAAD). The aim of this work was to determine the prevalence and effect of rare, pathogenic or likely pathogenic (P\/LP) variants in HTAAD genes on the association of TAAD diagnoses, and whether increased polygenic risk is associated with an additive effect on monogenic risk.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This genetic association study used data from Penn Medicine Biobank (PMBB) and MyCode Biobank. P\/LP HTAAD gene variants were adjudicated according to American College of Medical Genetics and Genomics standards. A polygenic risk score (PRS) was derived from a genome-wide association study of aortic diameter to assess polygenic TAAD risk. The main outcome of interest, TAAD, was identified using an algorithmic review of electronic health records. Regression analyses were performed to determine the monogenic and polygenic effects on TAAD risk.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Across the two cohorts, .2%\u2013.3% of participants carried a P\/LP HTAAD gene variant. Individuals carrying P\/LP HTAAD gene variants had a significantly higher odds of TAAD compared to non-carriers [odds ratio (OR) 13.5, 95% confidence interval (CI) 5.3\u201334.6, P &amp;lt; .001] with variable effects when stratified by gene. A one standard deviation increase in the PRS was associated with an OR for TAAD of 1.43 (95% CI 1.39\u20131.47, P &amp;lt; .001). TAAD prevalence was higher among individuals carrying a P\/LP HTAAD gene variant in the highest PRS quintile compared to carriers in the lowest PRS quintile (relative risk 2.32, 95% CI 1.29\u20134.17, P &amp;lt; .01), suggesting that polygenic risk may be an important additive factor in rare variant TAAD risk.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>P\/LP HTAAD gene variants confer a substantial population-level increased risk of TAAD. Polygenic risk represents an additive factor for rare variant TAAD risk, suggesting that integrating monogenic and polygenic risks has the potential to enhance patient risk stratification and treatment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/eurheartj\/ehag518","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T11:45:20Z","timestamp":1782387920000},"source":"Crossref","is-referenced-by-count":0,"title":["Thoracic aortic disease: prognostic role of gene variants and polygenic risk scores"],"prefix":"10.1093","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6829-2594","authenticated-orcid":false,"given":"John","family":"DePaolo","sequence":"first","affiliation":[{"name":"Department of Surgery, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane T","family":"Smelser","sequence":"additional","affiliation":[{"name":"Department of Genomic Health, Weis Center for Research, Geisinger Health System , Danville, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongchuan","family":"Guo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Abramowitz","sequence":"additional","affiliation":[{"name":"Department of Surgery, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina","family":"Sisti","sequence":"additional","affiliation":[{"name":"Division of Vascular Surgery, Department of Surgery, Perelman School of Medicine, University of Pennsylvania , 3400 Civic Center Boulevard, 14th Floor South Perelman Center, Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renae","family":"Judy","sequence":"additional","affiliation":[{"name":"Department of Surgery, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nimesh D","family":"Desai","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Surgery, Department of Surgery, Perelman School of Medicine, University of Pennsylvania , 3400 Civic Center Boulevard, 2nd Floor East Perelman Center, Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7560-7738","authenticated-orcid":false,"given":"Wilson Y","family":"Szeto","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Surgery, Department of Surgery, Perelman School of Medicine, University of Pennsylvania , 3400 Civic Center Boulevard, 2nd Floor East Perelman Center, Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G","family":"Levin","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Cardiology, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA ,","place":["USA"]},{"name":"Corporal Michael J. Crescenz VA Medical Center , Philadelphia, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Mirshahi","sequence":"additional","affiliation":[{"name":"Geisinger Commonwealth School of Medicine , Danville, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory","family":"Salzler","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery, Geisinger , Danville, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan","family":"Ryer","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery, Geisinger , Danville, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R","family":"Elmore","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery, Geisinger , Danville, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott A","family":"LeMaire","sequence":"additional","affiliation":[{"name":"Research Institute and Heart & Vascular Institute, Geisinger , Danville, PA ,","place":["USA"]},{"name":"Michael E. DeBakey Department of Surgery, Baylor College of Medicine , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Genomic Health, Weis Center for Research, Geisinger Health System , Danville, PA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7806-0068","authenticated-orcid":false,"given":"Dianna M","family":"Milewicz","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8009-1632","authenticated-orcid":false,"given":"Scott M","family":"Damrauer","sequence":"additional","affiliation":[{"name":"Division of Vascular Surgery, Department of Surgery, Perelman School of Medicine, University of Pennsylvania , 3400 Civic Center Boulevard, 14th Floor South Perelman Center, Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Division of Cardiovascular Surgery, Department of Surgery, Perelman School of Medicine, University of Pennsylvania , 3400 Civic Center Boulevard, 2nd Floor East Perelman Center, Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Corporal Michael J. 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