Please use this identifier to cite or link to this item:
Title: Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci
Authors: Jones, G. T.
Tromp, G.
Kuivaniemi, H.
Gretarsdottir, S.
Baas, A. F.
Giusti, B.
Strauss, E.
van 't Hof, F. N.
Webb, T.
Erdman, R.
Ritchie, M. D.
Ye, Z.
Peissig, P. L.
Gottesman, O.
Verma, S. S.
Malinowski, J.
Rasmussen-Torvik, L. J.
Borthwick, K.
Smelser, D. T.
Crosslin, D. R.
de Andrade, M.
Franklin, D. P.
Ryer, E. J.
McCarty, C. A.
Bottinger, E. P.
Pacheco, J. A.
Crawford, D. C.
Carrell, D. S.
Gerhard, G. S.
Carey, D. J.
Phillips, V. L.
Williams, M. J.
Wei, W.
Blair, R.
Hill, A. A.
Vasudevan, T. M.
Lewis, D. R.
Thomson, I. A.
Abbate, R.
Krysa, J.
Hill, G. B.
Roake, J.
Merriman, T. R.
Oszkinis, G.
Galora, S.
Saracini, C.
Pulli, R.
Pratesi, C.
Saratzis, Athanasios
Verissimo, A.
Bumpstead, S. J.
Badger, S. A.
Clough, R. E.
Cockerill, G. W.
Hafez, H.
Thompson, M. M.
Scott, D. J.
Futers, T. S.
Romaine, S. P.
Bridge, K.
Griffin, K. J.
Bailey, M. A.
Smith, A.
van Bockxmeer, F.
Matthiasson, S. E.
Thorleifsson, G.
Thorsteinsdottir, U.
Blankensteijn, J. D.
Teijink, J. A.
Wijmenga, C.
de Graaf, J.
Kiemeney, L. A.
Humphries, S. E.
Lindholt, J. S.
Hughes, A. E.
Bradley, D. T.
Stirrups, K.
Golledge, J.
Norman, P. E.
Powell, J. T.
Hamby, S. E.
Goodall, A. H.
Nelson, C. P.
Sakalihasan, N.
Courtois, A.
Ferrell, R. E.
Eriksson, P.
Folkersen, L.
Franco-Cereceda, A.
Lipovich, L.
Eicher, J. D.
Johnson, A. D.
Betsholtz, C.
Ruusalepp, A.
Franzén, O.
Schadt, E.
Björkegren, J. L.
Drolet, A. M.
Verhoeven, E.
Zeebregts, C. J.
Geelkerken, R. H.
van Sambeek, M. R.
van Sterkenburg, S. M.
de Vries, J. P.
Stefansson, K.
Thompson, J. R.
Elmore, J. R.
de Bakker, P. I.
Deloukas, P.
Sayers, R. D.
Harrison, S.
van Rij, A. M.
Samani, Nilesh J.
Bown, Matthew J.
Verma, A.
Pendergrass, S.
Kullo, I. J.
First Published: 29-Nov-2016
Publisher: American Heart Association
Citation: Circulation Research, 2017, 120 (2), pp. 341-353
Abstract: Rationale: 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. Objective: To identify additional AAA risk loci using data from all available genome-wide association studies (GWAS). Methods and Results: 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. Conclusions: 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.
DOI Link: 10.1161/CIRCRESAHA.116.308765
ISSN: 0009-7330
eISSN: 1524-4571
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the authors, 2017. This is an open-access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Appears in Collections:Published Articles, Dept. of Cardiovascular Sciences

Files in This Item:
File Description SizeFormat 
341.full.pdfPublished (publisher PDF)4.86 MBAdobe PDFView/Open

Items in LRA are protected by copyright, with all rights reserved, unless otherwise indicated.