{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:49:13Z","timestamp":1753890553107,"version":"3.41.2"},"reference-count":48,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,12,14]],"date-time":"2022-12-14T00:00:00Z","timestamp":1670976000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:p>Abdominal aortic aneurysm (AAA) is a severe life-threatening disease that is generally asymptomatic and is diagnosed at a very late stage. The genetic component underpinning AAA is considerable, with an estimated heritability of up to 70%. Therefore, identifying genetic biomarkers for AAA is valuable for predicting high-risk populations. We used integrative bioinformatics and cellular AAA model-based validation to reveal that the gene encoding protein tyrosine phosphatase non-receptor type 22 (<jats:italic>PTPN22<\/jats:italic>) may be a potentially useful diagnostic biomarker for AAA. Integrative bioinformatics analyses of clinical specimens showed that <jats:italic>PTPN22<\/jats:italic> expression was consistently upregulated in aortic tissues and peripheral blood mononuclear cells (PBMCs) derived from patients with AAA. Moreover, transcriptomics data revealed that <jats:italic>PTPN22<\/jats:italic> is a potential biomarker for AAA with limited diagnostic value in patients with thoracic aortic aneurysm\/dissection. Single-cell RNA sequencing-based findings further highlight <jats:italic>PTPN22<\/jats:italic> expression in aortic immune cells and vascular smooth muscle cells (VSMCs) is consistently upregulated in patients with AAA. A cellular AAA model was eventually employed to verify the increase in <jats:italic>PTPN22<\/jats:italic> expression. Collectively, the results indicate that <jats:italic>PTPN22<\/jats:italic> could be a potentially useful diagnostic biomarker for AAA.<\/jats:p>","DOI":"10.3389\/fcvm.2022.1061771","type":"journal-article","created":{"date-parts":[[2022,12,14]],"date-time":"2022-12-14T09:40:26Z","timestamp":1671010826000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of PTPN22 as a potential genetic biomarker for abdominal aortic aneurysm"],"prefix":"10.3389","volume":"9","author":[{"given":"Peng","family":"Ruan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianshu","family":"Chu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianjun","family":"Ge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,12,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2101","DOI":"10.1056\/NEJMcp1401430","article-title":"Clinical practice. 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