{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T18:43:55Z","timestamp":1777401835600,"version":"3.51.4"},"reference-count":36,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Angiology"],"abstract":"<jats:p>\n                    To explore the contribution of genetic risk factors to isolated superior mesenteric artery dissection (ISMAD), this study detected variations in known arterial dissection-related genes in a cohort of patients with symptomatic ISMAD. Thirty-two patients were recruited. Whole-exome sequencing was conducted on blood samples from all participants and 83 controls. Prevalence, clinical characteristics, treatments, and causative gene carriers were also studied. Eleven (34.4%) patients with ISMAD had pathogenic variants in\n                    <jats:italic toggle=\"yes\">COL3A1<\/jats:italic>\n                    (n\u2009=\u20093),\n                    <jats:italic toggle=\"yes\">COL12A1<\/jats:italic>\n                    (n\u2009=\u20093),\n                    <jats:italic toggle=\"yes\">TLN1<\/jats:italic>\n                    (n\u2009=\u20091),\n                    <jats:italic toggle=\"yes\">FN1<\/jats:italic>\n                    (n\u2009=\u20092), and\n                    <jats:italic toggle=\"yes\">TNXB<\/jats:italic>\n                    (n\u2009=\u20092). Pathogenic variants in the\n                    <jats:italic toggle=\"yes\">COL3A1<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">COL12A1<\/jats:italic>\n                    genes are strongly correlated with ISMAD. In 9.4% (3\/32) of the patients with ISMAD, conservative treatment failed and further endovascular treatment was required. Among them, 2 (66.7%) harbored pathogenic mutations in\n                    <jats:italic toggle=\"yes\">COL3A1<\/jats:italic>\n                    . Pathogenic variants in the\n                    <jats:italic toggle=\"yes\">COL3A1<\/jats:italic>\n                    gene are associated with a high predisposition to endovascular treatment (\n                    <jats:italic toggle=\"yes\">P<\/jats:italic>\n                    \u2009=\u2009.02).\n                    <jats:italic toggle=\"yes\">COL3A1<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">COL12A1<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">TLN1<\/jats:italic>\n                    mutations may be risk factors for ISMAD. A small proportion of patients with ISMAD and carrying pathogenic mutations in\n                    <jats:italic toggle=\"yes\">COL3A1<\/jats:italic>\n                    were more likely to experience more severe arterial tearing and require endovascular treatment.\n                  <\/jats:p>","DOI":"10.1177\/00033197261427826","type":"journal-article","created":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:46:30Z","timestamp":1773236790000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Evaluation in Symptomatic Spontaneous Isolated Superior Mesenteric Artery Dissection"],"prefix":"10.1177","author":[{"given":"Xiaoming","family":"Xie","sequence":"first","affiliation":[{"name":"Department of Vascular and Interventional Radiology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Runze","family":"Jiao","sequence":"additional","affiliation":[{"name":"Department of Vascular and Interventional Radiology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, China"},{"name":"Queen Mary School, Jiangxi Medical College, Nanchang University, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0949-3182","authenticated-orcid":false,"given":"Feng","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Vascular and Interventional Radiology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Vascular and Interventional Radiology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,3,10]]},"reference":[{"key":"e_1_3_2_2_2","volume-title":"Rutherford\u2019s Vascular Surgery and Endovascular Therapy","author":"Sidawy AN","year":"2019","unstructured":"Sidawy AN, Perler BA. 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