{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T22:26:29Z","timestamp":1789079189013,"version":"build-2803163510"},"reference-count":77,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2025,7,12]],"date-time":"2025-07-12T00:00:00Z","timestamp":1752278400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Jazz Pharmaceuticals"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Sinusoidal Obstruction Syndrome\/Veno-Occlusive Disease (SOS\/VOD) is a severe complication of hematopoietic cell transplantation (HCT). Furthermore, emerging evidence suggests the potential role of complement activation and endothelial injury in SOS\/VOD pathogenesis. In this study, we aimed to identify potential distinct pathogenic genetic variants between SOS\/VOD and other endothelial injury syndromes following HCT, such as transplant-associated thrombotic microangiopathy (TA-TMA). For this aim, genomic DNA from 30 SOS\/VOD patients and 30 controls with TA-TMA was analyzed. Using Next-Generation Sequencing (NGS), variants in complement-related genes (CFH, CFI, CFB, CFD, C3, CD55, C5, CD46, and thrombomodulin\/THBD) and ADAMTS13 were examined. Out of 426 detected variants, 20 were classified as pathogenic. In SOS\/VOD patients, variants were identified in ADAMTS13 (4), CFH (3), C3 (2), and CFB (1) genes. One of the variants has been recognized as the strongest genetic predictor of ADAMTS13 activity. Controls exhibited more variants in complement-related genes, particularly CFH, CFI, and C3. The genetic differences between SOS\/VOD and TA-TMA highlight different pathogenic mechanisms, offering the potential for targeted risk assessment and therapy in HCT recipients.<\/jats:p>","DOI":"10.3390\/ijms26146712","type":"journal-article","created":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T09:45:52Z","timestamp":1752572752000},"page":"6712","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic Susceptibility in Sinusoidal Obstruction Syndrome\/Veno-Occlusive Disease: A Case\u2013Control Study"],"prefix":"10.3390","volume":"26","author":[{"given":"Ioulia","family":"Mavrikou","sequence":"first","affiliation":[{"name":"Hematology & BMT Unit, General Hospital \u201cGeorge Papanikolaou\u201d, 57010 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Castelli","sequence":"additional","affiliation":[{"name":"Hematology and Bone Marrow Transplant 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Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Vardi","sequence":"additional","affiliation":[{"name":"Hematology & BMT Unit, General Hospital \u201cGeorge Papanikolaou\u201d, 57010 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apostolia","family":"Papalexandri","sequence":"additional","affiliation":[{"name":"Hematology & BMT Unit, General Hospital \u201cGeorge Papanikolaou\u201d, 57010 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2008-7954","authenticated-orcid":false,"given":"Christos","family":"Demosthenous","sequence":"additional","affiliation":[{"name":"Hematology & BMT Unit, General Hospital \u201cGeorge Papanikolaou\u201d, 57010 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Koutra","sequence":"additional","affiliation":[{"name":"Hematology & BMT Unit, General Hospital 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Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8883-8208","authenticated-orcid":false,"given":"Eleni","family":"Gavriilaki","sequence":"additional","affiliation":[{"name":"Hematology & BMT Unit, General Hospital \u201cGeorge Papanikolaou\u201d, 57010 Thessaloniki, Greece"},{"name":"Second Propedeutic Department of Internal Medicine, Hippocration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1038\/bmt.2011.65","article-title":"The role of the endothelium in the short-term complications of hematopoietic SCT","volume":"46","author":"Carreras","year":"2011","journal-title":"Bone Marrow 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