{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:26:33Z","timestamp":1791354393917,"version":"4.3.1"},"reference-count":43,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T00:00:00Z","timestamp":1727308800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["D15D18000410001"],"award-info":[{"award-number":["D15D18000410001"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["101016775"],"award-info":[{"award-number":["101016775"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Union\u2019s Horizon 2020 research and innovation programme","award":["D15D18000410001"],"award-info":[{"award-number":["D15D18000410001"]}]},{"name":"European Union\u2019s Horizon 2020 research and innovation programme","award":["101016775"],"award-info":[{"award-number":["101016775"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Background\/Objectives: The identification of coronary artery disease (CAD) high-risk individuals is a major clinical need for timely diagnosis and intervention. Many different polygenic scores (PGSs) for CAD risk are available today to estimate the genetic risk. It is necessary to carefully choose the score to use, in particular for studies on populations, which are not adequately represented in the large datasets of European biobanks, such as the Italian one. This work aimed to analyze which PGS had the best performance within the Italian population. Methods: We used two Italian independent cohorts: the EPICOR case\u2013control study (576 individuals) and the Atherosclerosis, Thrombosis, and Vascular Biology (ATVB) Italian study (3359 individuals). We evaluated 266 PGS for cardiovascular disease risk from the PGS Catalog, selecting 51 for CAD. Results: Distributions between patients and controls were significantly different for 49 scores (p-value &lt; 0.01). Only five PGS have been trained and tested for the European population specifically. PGS003727 demonstrated to be the most accurate when evaluated independently (EPICOR AUC = 0.68; ATVB AUC = 0.80). Taking into account the conventional CAD risk factors further enhanced the performance of the model, particularly in the ATVB study (p-value = 0.0003). Conclusions: European CAD PGS could have different risk estimates in peculiar populations, such as the Italian one, as well as in various geographical macro areas. Therefore, further evaluation is recommended for clinical applicability.<\/jats:p>","DOI":"10.3390\/jpm14101025","type":"journal-article","created":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T09:46:20Z","timestamp":1727343980000},"page":"1025","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Population Heterogeneity and Selection of Coronary Artery Disease Polygenic Scores"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7573-3693","authenticated-orcid":false,"given":"Carla","family":"Debernardi","sequence":"first","affiliation":[{"name":"Genomic Variation, Complex Diseases and Population Medicine Unit, Department of Medical Sciences, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Savoca","sequence":"additional","affiliation":[{"name":"Genomic Variation, Complex Diseases and Population Medicine Unit, Department of Medical Sciences, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"De Gregorio","sequence":"additional","affiliation":[{"name":"Genomic Variation, Complex Diseases and Population Medicine Unit, Department of Medical Sciences, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Casalone","sequence":"additional","affiliation":[{"name":"Genomic Variation, Complex Diseases and Population Medicine Unit, Department of Medical Sciences, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Rosselli","sequence":"additional","affiliation":[{"name":"Genomic Variation, Complex Diseases and Population Medicine Unit, Department of Medical Sciences, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6349-1764","authenticated-orcid":false,"given":"Elton Jalis","family":"Herman","sequence":"additional","affiliation":[{"name":"Genomic Variation, Complex Diseases and Population Medicine Unit, Department of Medical Sciences, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Di Primio","sequence":"additional","affiliation":[{"name":"Genomic Variation, Complex Diseases and Population Medicine Unit, Department of Medical Sciences, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Tumino","sequence":"additional","affiliation":[{"name":"Cancer Registry and Histopathology Unit, Azienda Ospedaliera \u201cCivile-M.P. Arezzo\u201d, 97100 Ragusa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5201-172X","authenticated-orcid":false,"given":"Sabina","family":"Sieri","sequence":"additional","affiliation":[{"name":"Epidemiology and Prevention Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, 20100 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Vineis","sequence":"additional","affiliation":[{"name":"MRC-PHE Centre for Environment and Health, Imperial College London, London W12 0BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Panico","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University Federico II, 80100 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8008-5096","authenticated-orcid":false,"given":"Carlotta","family":"Sacerdote","sequence":"additional","affiliation":[{"name":"Piedmont Reference Centre for Epidemiology and Cancer Prevention (CPO Piemonte), 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Ardissino","sequence":"additional","affiliation":[{"name":"Cardiology Department, Azienda Ospedaliero-Universitaria of Parma, 43100 Parma, Italy"},{"name":"Department of Medicine and Surgery, University of Parma, 43100 Parma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5351-0619","authenticated-orcid":false,"given":"Rosanna","family":"Asselta","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, 20072 Milan, Italy"},{"name":"IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0674-7757","authenticated-orcid":false,"given":"Giuseppe","family":"Matullo","sequence":"additional","affiliation":[{"name":"Genomic Variation, Complex Diseases and Population Medicine Unit, Department of Medical Sciences, University of Turin, 10126 Turin, Italy"},{"name":"Medical Genetic Service, Citt\u00e0 della Salute e della Scienza, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.2991\/jegh.k.201217.001","article-title":"Epidemiology and the Magnitude of Coronary Artery Disease and Acute Coronary Syndrome: A Narrative Review","volume":"11","author":"Ralapanawa","year":"2021","journal-title":"J. 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