{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T20:48:18Z","timestamp":1790455698086,"version":"4.1.0"},"reference-count":39,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T00:00:00Z","timestamp":1676505600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"German Research Foundation within the program Open Access Publication Funding"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Clonal hematopoiesis (CH)-associated mutations increase the risk of atherosclerotic cardiovascular diseases. However, it is unclear whether the mutations detected in circulating blood cells can also be detected in tissues associated with atherosclerosis, where they could affect physiology locally. To address this, the presence of CH mutations in peripheral blood, atherosclerotic lesions and associated tissues was assessed in a pilot study of 31 consecutive patients with peripheral vascular disease (PAD) who underwent open surgical procedures. Next-generation sequencing was used to screen the most commonly mutated loci (DNMT3A, TET2, ASXL1 and JAK2). Twenty CH mutations were detected in peripheral blood of 14 (45%) patients, 5 of whom had more than one mutation. TET2 (11 mutations, 55%) and DNMT3A (8 mutations, 40%) were the most frequently affected genes. Altogether, 88% of the mutations detectable in peripheral blood were also present in the atherosclerotic lesions. Twelve patients also had mutations in perivascular fat or subcutaneous tissue. The presence of CH mutations in PAD-associated tissues as well as in blood suggests that CH mutations may make a previously unknown contribution to PAD disease biology.<\/jats:p>","DOI":"10.3390\/ijms24043962","type":"journal-article","created":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T02:04:03Z","timestamp":1676513043000},"page":"3962","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Clonal Hematopoiesis Mutations Are Present in Atherosclerotic Lesions in Peripheral Artery Disease"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0799-4725","authenticated-orcid":false,"given":"Petra","family":"B\u00fcttner","sequence":"first","affiliation":[{"name":"Department of Cardiology, Heart Center Leipzig at University of Leipzig, University of Leipzig, Str\u00fcmpellstr. 39, 04289 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"B\u00f6ttner","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Heart Center Leipzig at University of Leipzig, University of Leipzig, Str\u00fcmpellstr. 39, 04289 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Knut","family":"Krohn","sequence":"additional","affiliation":[{"name":"Core Unit DNA-Technologies, Medical Faculty, University of Leipzig, Philipp-Rosenthal-Str. 55, 04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronny","family":"Baber","sequence":"additional","affiliation":[{"name":"Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University of Leipzig, Paul-List-Strassse 13-15, 04103 Leipzig, Germany"},{"name":"Leipzig Medical Biobank, University of Leipzig, Str\u00fcmpellstr. 39, 04289 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1863-3239","authenticated-orcid":false,"given":"Uwe","family":"Platzbecker","sequence":"additional","affiliation":[{"name":"Department of Hematology, Cellular Therapy and Hemostaseology, Leipzig University Hospital, Liebigstrasse 20, 04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8815-7621","authenticated-orcid":false,"given":"Michael","family":"Cross","sequence":"additional","affiliation":[{"name":"Department of Hematology, Cellular Therapy and Hemostaseology, Leipzig University Hospital, Liebigstrasse 20, 04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Desch","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Heart Center Leipzig at University of Leipzig, University of Leipzig, Str\u00fcmpellstr. 39, 04289 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0169-998X","authenticated-orcid":false,"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Heart Center Leipzig at University of Leipzig, University of Leipzig, Str\u00fcmpellstr. 39, 04289 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Steiner","sequence":"additional","affiliation":[{"name":"Division of Angiology, Department of Internal Medicine, Neurology and Dermatology, Leipzig University Hospital, Liebigstrasse 20, 04103 Leipzig, Germany"},{"name":"Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum Munich at the University of Leipzig and University Hospital Leipzig, Rosenthal-Stra\u00dfe 27, 04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dierk","family":"Scheinert","sequence":"additional","affiliation":[{"name":"Division of Angiology, Department of Internal Medicine, Neurology and Dermatology, Leipzig University Hospital, Liebigstrasse 20, 04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3920-7490","authenticated-orcid":false,"given":"Klaus H.","family":"Metzeler","sequence":"additional","affiliation":[{"name":"Department of Hematology, Cellular Therapy and Hemostaseology, Leipzig University Hospital, Liebigstrasse 20, 04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Branzan","sequence":"additional","affiliation":[{"name":"Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum Munich at the University of Leipzig and University Hospital Leipzig, Rosenthal-Stra\u00dfe 27, 04103 Leipzig, Germany"},{"name":"Visceral, Transplantation, Thorax and Vascular Surgery, Leipzig University Hospital, Liebigstrasse 20, 04103 Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/s41572-019-0106-z","article-title":"Atherosclerosis","volume":"5","author":"Libby","year":"2019","journal-title":"Nat. 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