Title |
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci
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Published in |
Circulation Research, November 2016
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DOI | 10.1161/circresaha.116.308765 |
Pubmed ID | |
Authors |
Gregory T. Jones, Gerard Tromp, Helena Kuivaniemi, Solveig Gretarsdottir, Annette F. Baas, Betti Giusti, Ewa Strauss, Femke N.G. van‘t Hof, Thomas R. Webb, Robert Erdman, Marylyn D. Ritchie, James R. Elmore, Anurag Verma, Sarah Pendergrass, Iftikhar J. Kullo, Zi Ye, Peggy L. Peissig, Omri Gottesman, Shefali S. Verma, Jennifer Malinowski, Laura J. Rasmussen-Torvik, Kenneth M. Borthwick, Diane T. Smelser, David R. Crosslin, Mariza de Andrade, Evan J. Ryer, Catherine A. McCarty, Erwin P. Böttinger, Jennifer A. Pacheco, Dana C. Crawford, David S. Carrell, Glenn S. Gerhard, David P. Franklin, David J. Carey, Victoria L. Phillips, Michael J.A. Williams, Wenhua Wei, Ross Blair, Andrew A. Hill, Thodor M. Vasudevan, David R. Lewis, Ian A. Thomson, Jo Krysa, Geraldine B. Hill, Justin Roake, Tony R. Merriman, Grzegorz Oszkinis, Silvia Galora, Claudia Saracini, Rosanna Abbate, Raffaele Pulli, Carlo Pratesi, Athanasios Saratzis, Ana R. Verissimo, Suzannah Bumpstead, Stephen A. Badger, Rachel E. Clough, Gillian Cockerill, Hany Hafez, D. Julian A. Scott, T. Simon Futers, Simon P.R. Romaine, Katherine Bridge, Kathryn J. Griffin, Marc A. Bailey, Alberto Smith, Matthew M. Thompson, Frank M. van Bockxmeer, Stefan E. Matthiasson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Jan D. Blankensteijn, Joep A.W. Teijink, Cisca Wijmenga, Jacqueline de Graaf, Lambertus A. Kiemeney, Jes S. Lindholt, Anne Hughes, Declan T. Bradley, Kathleen Stirrups, Jonathan Golledge, Paul E. Norman, Janet T. Powell, Steve E. Humphries, Stephen E. Hamby, Alison H. Goodall, Christopher P. Nelson, Natzi Sakalihasan, Audrey Courtois, Robert E. Ferrell, Per Eriksson, Lasse Folkersen, Anders Franco-Cereceda, John D. Eicher, Andrew D. Johnson, Christer Betsholtz, Arno Ruusalepp, Oscar Franzén, Eric E. Schadt, Johan L.M. Björkegren, Leonard Lipovich, Anne M. Drolet, Eric L. Verhoeven, Clark J. Zeebregts, Robert H. Geelkerken, Marc R. van Sambeek, Steven M. van Sterkenburg, Jean-Paul de Vries, Kari Stefansson, John R. Thompson, Paul I.W. de Bakker, Panos Deloukas, Robert D. Sayers, Seamus C. Harrison, Andre M. van Rij, Nilesh J. Samani, Matthew J. Bown, The International Consortium for Blood Pressure The Cardiogenics Consortium |
Abstract |
Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA. To identify additional AAA risk loci using data from all available genome-wide association studies (GWAS). Through a meta-analysis of 6 GWAS datasets and a validation study totalling 10,204 cases and 107,766 controls we identified 4 new AAA risk loci: 1q32.3 (SMYD2), 13q12.11 (LINC00540), 20q13.12 (near PCIF1/MMP9/ZNF335), and 21q22.2 (ERG). In various database searches we observed no new associations between the lead AAA SNPs and coronary artery disease, blood pressure, lipids or diabetes. Network analyses identified ERG, IL6R and LDLR as modifiers of MMP9, with a direct interaction between ERG and MMP9. The 4 new risk loci for AAA appear to be specific for AAA compared with other cardiovascular diseases and related traits suggesting that traditional cardiovascular risk factor management may only have limited value in preventing the progression of aneurysmal disease. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 6 | 19% |
United Kingdom | 5 | 16% |
Netherlands | 2 | 6% |
Switzerland | 2 | 6% |
Cyprus | 1 | 3% |
France | 1 | 3% |
India | 1 | 3% |
Denmark | 1 | 3% |
Canada | 1 | 3% |
Other | 2 | 6% |
Unknown | 10 | 31% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 23 | 72% |
Scientists | 8 | 25% |
Science communicators (journalists, bloggers, editors) | 1 | 3% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 161 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 21 | 13% |
Student > Ph. D. Student | 20 | 12% |
Student > Bachelor | 14 | 9% |
Other | 11 | 7% |
Professor | 11 | 7% |
Other | 47 | 29% |
Unknown | 37 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 53 | 33% |
Biochemistry, Genetics and Molecular Biology | 25 | 16% |
Agricultural and Biological Sciences | 15 | 9% |
Nursing and Health Professions | 3 | 2% |
Computer Science | 3 | 2% |
Other | 18 | 11% |
Unknown | 44 | 27% |