{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T18:57:26Z","timestamp":1793386646256,"version":"4.5.0"},"reference-count":32,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T00:00:00Z","timestamp":1585785600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["DGRC 1901\/09"],"award-info":[{"award-number":["DGRC 1901\/09"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["POR, FSE 2007-13"],"award-info":[{"award-number":["POR, FSE 2007-13"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Requests to test for thrombophilia in the clinical context are often not evidence-based. Aim: To define the role of a series of prothrombotic gene variants in a large population of patients with different venous thromboembolic diseases. Methods: We studied Factor V Leiden (FVL), FVR2, FII G20210A, Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, beta-fibrinogen -455 G&gt;A, FXIII V34L, and HPA-1 L33P variants and PAI-1 4G\/5G alleles in 343 male and female patients with deep vein thrombosis (DVT), 164 with pulmonary embolism (PE), 126 with superficial vein thrombosis (SVT), 118 with portal vein thrombosis (PVT), 75 with cerebral vein thrombosis (CVT) and 119 with retinal vein thrombosis (RVT), and compared them with the corresponding variants and alleles in 430 subjects from the general population. Results: About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE. In patients with a history of PVT or CVT, the FII G20210A variant was more frequent, particularly in females. In contrast, a poor association was found between RVT and prothrombotic risk factors, confirming that local vascular factors have a key role in this thrombotic event. Conclusions: Only FVL, FVR2 and FII G20210A are related to vein thrombotic disease. Other gene variants, often requested for testing in the clinical context, do not differ significantly between cases and controls. Evidence of a sex difference for some variants, once confirmed in larger populations, may help to promote sex-specific prevention of such diseases.<\/jats:p>","DOI":"10.3390\/jcm9041008","type":"journal-article","created":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T13:39:34Z","timestamp":1585834774000},"page":"1008","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization"],"prefix":"10.3390","volume":"9","author":[{"given":"Gustavo","family":"Cernera","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE-Biotecnologie avanzate, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8084-9976","authenticated-orcid":false,"given":"Alessandro","family":"Di Minno","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie avanzate, 80131 Naples, Italy"},{"name":"Dipartimento di Farmacia, Universit\u00e0 di Napoli Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0596-2933","authenticated-orcid":false,"given":"Felice","family":"Amato","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE-Biotecnologie avanzate, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ausilia","family":"Elce","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie avanzate, 80131 Naples, Italy"},{"name":"Universit\u00e0 Telematica Pegaso, 80143 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Liguori","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE-Biotecnologie avanzate, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Bruzzese","sequence":"additional","affiliation":[{"name":"Dipartimento di Sanit\u00e0 Pubblica, Universit\u00e0 di Napoli Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4482-6782","authenticated-orcid":false,"given":"Antonella Miriam","family":"Di Lullo","sequence":"additional","affiliation":[{"name":"CEINGE-Biotecnologie avanzate, 80131 Naples, Italy"},{"name":"Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche, Universit\u00e0 di Napoli Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Castaldo","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE-Biotecnologie avanzate, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1614-6816","authenticated-orcid":false,"given":"Federica","family":"Zarrilli","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE-Biotecnologie avanzate, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8008-2557","authenticated-orcid":false,"given":"Marika","family":"Comegna","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE-Biotecnologie avanzate, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,4,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.rec.2014.12.002","article-title":"2014 ESC Guidelines on the Diagnosis and Management of Acute Pulmonary Embolism","volume":"68","author":"Konstantinides","year":"2015","journal-title":"Revista Espa\u00f1ola de Cardiolog\u00eda (English Edition)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/j.1365-2141.2012.09249.x","article-title":"C. 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