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Previous studies have suggested that AAD subtypes share similar genetic mechanisms; however, these studies investigated the subtypes separately. Here, we performed a large genome-wide association study (GWAS) meta-analysis for AAD by combining its subtypes, including 11,148 cases and 708,468 controls of European ancestry. We identified 24 susceptibility loci, including four novel loci at 1p21.2 (PALMD), 2p22.2 (CRIM1), 6q22.1 (FRK), and 12q14.3 (HMGA2), which were partially validated in both internal and external populations. Cell type-specific analysis highlighted the artery as the most relevant tissue where the susceptibility variants may exert their effects in a tissue-specific manner. By using four approaches, we prioritized 53 genes, reinforcing the importance of elastic fiber formation and transforming growth factor-beta (TGF-\u03b2) signaling in the formation of AAD, and suggested potential target drugs for the treatment. Additionally, various cardiovascular diseases were genetically correlated with AAD, and several cardiovascular risk factors [e.g., body mass index (BMI), lipid levels, and pulse pressure] showed causal associations with AAD, underscoring their shared genetic structures and mechanisms underlying the comorbidity. Moreover, five prioritized genes (PALMD, CRIM1, FRK, HMGA2, and NT5DC1) at the novel loci were supported as regulators of smooth muscle and endothelial cell functions through ex vivo and in vitro experiments. Together, these findings enhance our understanding of the genetic architecture of AAD and provide novel insights into future biological mechanism studies and therapeutic strategies.<\/jats:p>","DOI":"10.1093\/gpbjnl\/qzaf039","type":"journal-article","created":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T15:43:41Z","timestamp":1745941421000},"source":"Crossref","is-referenced-by-count":1,"title":["Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes"],"prefix":"10.1093","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6555-9524","authenticated-orcid":false,"given":"Yifan","family":"Du","sequence":"first","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]},{"name":"Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430022,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3743-3878","authenticated-orcid":false,"given":"Yunlong","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2013-6508","authenticated-orcid":false,"given":"Zhonghe","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7888-2408","authenticated-orcid":false,"given":"Minghui","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3155-679X","authenticated-orcid":false,"given":"Minghan","family":"Qu","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5294-8691","authenticated-orcid":false,"given":"Yifan","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2206-4684","authenticated-orcid":false,"given":"Hongji","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0179-6747","authenticated-orcid":false,"given":"Da","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Renmin Hospital of Wuhan University; Cardiovascular Research Institute, Wuhan University , Wuhan 430060,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2930-5193","authenticated-orcid":false,"given":"Shu","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1556-1249","authenticated-orcid":false,"given":"Si","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1851-4626","authenticated-orcid":false,"given":"Xi","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430030,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4037-7158","authenticated-orcid":false,"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Renmin Hospital of Wuhan University; Cardiovascular Research Institute, Wuhan University , Wuhan 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