Letter | Published:

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

Nature Genetics volume 42, pages 692697 (2010) | Download Citation


We performed a genome-wide association study on 1,292 individuals with abdominal aortic aneurysms (AAAs) and 30,503 controls from Iceland and The Netherlands, with a follow-up of top markers in up to 3,267 individuals with AAAs and 7,451 controls. The A allele of rs7025486 on 9q33 was found to associate with AAA, with an odds ratio (OR) of 1.21 and P = 4.6 × 10−10. In tests for association with other vascular diseases, we found that rs7025486[A] is associated with early onset myocardial infarction (OR = 1.18, P = 3.1 × 10−5), peripheral arterial disease (OR = 1.14, P = 3.9 × 10−5) and pulmonary embolism (OR = 1.20, P = 0.00030), but not with intracranial aneurysm or ischemic stroke. No association was observed between rs7025486[A] and common risk factors for arterial and venous diseases—that is, smoking, lipid levels, obesity, type 2 diabetes and hypertension. Rs7025486 is located within DAB2IP, which encodes an inhibitor of cell growth and survival.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.




  1. 1.

    , , & Abdominal aortic aneurysm: an illustrated narrative review. J. Manipulative Physiol. Ther. 26, 184–195 (2003).

  2. 2.

    Understanding abdominal aortic aneurysm. N. Engl. J. Med. 361, 1114–1116 (2009).

  3. 3.

    et al. Recent advances in molecular mechanisms of abdominal aortic aneurysm formation. World J. Surg. 32, 976–986 (2008).

  4. 4.

    , , & Epidemiology, aetiology, risk of rupture and treatment of abdominal aortic aneurysms: does sex matter? Eur. J. Vasc. Endovasc. Surg. 38, 278–284 (2009).

  5. 5.

    & Ruptured abdominal aortic aneurysm: a surgical emergency with many clinical presentations. Postgrad. Med. J. 85, 268–273 (2009).

  6. 6.

    , , , & Genetic and environmental contributions to abdominal aortic aneurysm development in a twin population. J. Vasc. Surg. 51, 3–7 discussion 7 (2010).

  7. 7.

    et al. The lifetime prevalence of abdominal aortic aneurysms among siblings of aneurysm patients is eightfold higher than among siblings of spouses: an analysis of 187 aneurysm families in Nova Scotia, Canada. J. Vasc. Surg. 42, 891–897 (2005).

  8. 8.

    , , & The genetic basis of abdominal aortic aneurysms: a review. Eur. J. Vasc. Endovasc. Surg. 33, 381–390 (2007).

  9. 9.

    et al. Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation 109, 2103–2108 (2004).

  10. 10.

    , & Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3. Eur. J. Vasc. Endovasc. Surg. 30, 29–35 (2005).

  11. 11.

    et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat. Genet. 40, 217–224 (2008).

  12. 12.

    et al. Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion. Eur. J. Hum. Genet. 17, 391–394 (2009).

  13. 13.

    et al. Association between the coronary artery disease risk locus on chromosome 9p21.3 and abdominal aortic aneurysm. Circ. Cardiovasc. Genet. 1, 39–42 (2008).

  14. 14.

    et al. Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association. J. Vasc. Surg. 49, 1525–1531 (2009).

  15. 15.

    & Statistical aspects of the analysis of data from retrospective studies of disease. J. Natl. Cancer Inst. 22, 719–748 (1959).

  16. 16.

    , & Genetic and environmental causes of variation in basal levels of blood cells. Twin Res. 2, 250–257 (1999).

  17. 17.

    & RasGAPs: a crucial regulator of extracellular stimuli for homeostasis of cellular functions. Mol. Biosyst. 4, 213–222 (2008).

  18. 18.

    et al. DAB2IP coordinates both PI3K-Akt and ASK1 pathways for cell survival and apoptosis. Proc. Natl. Acad. Sci. USA 106, 19878–19883 (2009).

  19. 19.

    , , & Differential regulation of the human gene DAB2IP in normal and malignant prostatic epithelia: cloning and characterization. Genomics 79, 573–581 (2002).

  20. 20.

    et al. Differential expression of hDAB2IPA and hDAB2IPB in normal tissues and promoter methylation of hDAB2IPA in hepatocellular carcinoma. J. Hepatol. 46, 655–663 (2007).

  21. 21.

    et al. Activation of nitric oxide synthase in endothelial cells by Akt-dependent phosphorylation. Nature 399, 601–605 (1999).

  22. 22.

    & Role of Akt signaling in vascular homeostasis and angiogenesis. Circ. Res. 90, 1243–1250 (2002).

  23. 23.

    et al. Regression of abdominal aortic aneurysm by inhibition of c-Jun N-terminal kinase. Nat. Med. 11, 1330–1338 (2005).

  24. 24.

    et al. AIP1 functions as an endogenous inhibitor of VEGFR2-mediated signaling and inflammatory angiogenesis in mice. J. Clin. Invest. 118, 3904–3916 (2008).

  25. 25.

    et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 316, 1491–1493 (2007).

  26. 26.

    et al. A common allele on chromosome 9 associated with coronary heart disease. Science 316, 1488–1491 (2007).

  27. 27.

    Links between arterial and venous disease. J. Intern. Med. 262, 341–350 (2007).

  28. 28.

    , , , & Venous thromboembolism and subsequent hospitalisation due to acute arterial cardiovascular events: a 20-year cohort study. Lancet 370, 1773–1779 (2007).

  29. 29.

    et al. Family history of myocardial infarction is an independent risk factor for venous thromboembolism: the Tromso study. J. Thromb. Haemost. 6, 1851–1857 (2008).

  30. 30.

    et al. Genome-wide detection and characterization of positive selection in human populations. Nature 449, 913–918 (2007).

  31. 31.

    et al. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat. Genet. 35, 131–138 (2003).

  32. 32.

    Generalized likelihood ratio tests. in Mathematical Statistics and Data Analysis Vol 1 (ed. Rice, J.A.) 308–310 (International Thomson Publishing, 1995).

  33. 33.

    et al. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat. Genet. 41, 221–227 (2009).

  34. 34.

    & Genomic control for association studies. Biometrics 55, 997–1004 (1999).

  35. 35.

    , , , & A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet. 39, 906–913 (2007).

  36. 36.

    et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851–861 (2007).

  37. 37.

    Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans. Hum. Mol. Genet. 11, 2463–2468 (2002).

Download references


We thank the individuals who participated in the study and whose contribution made this work possible. This study was funded in part through grants from the US National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (R01HL089650-02), and from two projects in the European Community′s Seventh Framework Programme (FP7/2007-2013): the Fighting Aneurysmal Disease project grant agreement HEALTH-F2-2008-200647, and ENGAGE project grant agreement HEALTH-F4-2007-201413. The gene expression study in aorta and mammary artery was funded by the Swedish Research Council (12660) and a donation by F. Lundberg. The recruitment of AAA sample sets and controls from Belgium, Canada and Pittsburgh was funded in part by grants from the NHLBI (HL064310 to H.K. and HL044682 to R.E.F.). The Finnish IA sample collection was funded in part by the US National Institute of Neurological Disorders and Stroke (NS034395 to G. Tromp), the American Heart Association, Michigan Affiliate (to G. Tromp) and the University of Kuopio (to A.R.). A.F.B. and Y.M.R. were supported by grants from the Dr. E. Dekker program of the Netherlands Heart Foundation (2009T001 and 2005T014 respectively). New Zealand samples were recruited and genotyped through the Vascular Research Consortium of New Zealand with funding via a program grant from the Health Research Council of New Zealand. Sample collection in Danville, Pennsylvania, was funded by a grant from the American Heart Association (to D.J.C.). UK sample collection was funded partially by grants from the UK Medical Research Council and the British Heart Foundation (to J.T.P.). The recruitment of VTE patients and controls from Spain was funded in part by grants from the Instituto Carlos III (RECAVA RD06/0014/0004, RD06/0014/0039 and 06/0014/0016). DNA isolation of Dutch AAA samples was funded from a grant from the Novartis Foundation for Cardiovascular Excellence. The GeneSTAR Research Program was funded in part by the NHLBI (HL087698 to L.C.B. and HL58625 to D.M.B.). The Danish Study of control subjects was funded by research grants from the Danish Research Council, the Danish Diabetes Association, the Danish Centre for Health Technology Assessment, Novo Nordisk, the Research Foundation of Copenhagen County, the Danish Ministry of Internal Affairs and Health, the Danish Heart Foundation, the Danish Pharmaceutical Association, the Augustinus Foundation, the Ib Henriksen Foundation, the Becket Foundation and the Velux foundation. The Inter99 was initiated by T.J. (principal investigator), K. Borch-Johnsen (co-principal investigator), H. Ibsen and T.F. Thomsen. The steering committee comprises the former two and C. Pisinger.

Author information

Author notes

    • Solveig Gretarsdottir
    • , Annette F Baas
    • , Gudmar Thorleifsson
    •  & Hilma Holm

    These authors contributed equally to this work.


  1. Population Genomics, deCODE Genetics, Reykjavik, Iceland.

    • Solveig Gretarsdottir
    • , Gudmar Thorleifsson
    • , Hilma Holm
    • , Jelena P Kostic
    • , Adalbjorg Jonasdottir
    • , Aslaug Jonasdottir
    • , G Bragi Walters
    • , Gisli Masson
    • , Patrick Sulem
    • , Jona Saemundsdottir
    • , Magali Mouy
    • , Hreinn Stefansson
    • , Valgerdur Steinthorsdottir
    • , Thorunn Rafnar
    • , Augustine Kong
    • , Unnur Thorsteinsdottir
    •  & Kari Stefansson
  2. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

    • Annette F Baas
  3. Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands.

    • Annette F Baas
    •  & Diederick E Grobbee
  4. Department of Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

    • Martin den Heijer
    • , Katja K Aben
    •  & Lambertus A Kiemeney
  5. Department of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

    • Martin den Heijer
  6. Department of Vascular Surgery, St. Antonius Hospital, Nieuwegein, The Netherlands.

    • Jean-Paul P M de Vries
  7. Department of Surgery, TweeSteden hospital Tilburg, Tilburg, The Netherlands.

    • Steef E Kranendonk
  8. Department of Surgery, University Medical Center Groningen, Groningen, The Netherlands.

    • Clark J A M Zeebregts
  9. Department of Surgery, Division of Vascular Surgery, Alysis Zorggroep, Location Rijnstate, Arnhem, The Netherlands.

    • Steven M van Sterkenburg
  10. Department of Surgery, Medical Spectrum Twente, Enschede, The Netherlands.

    • Robert H Geelkerken
  11. Department of Surgery, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

    • Andre M van Rij
    •  & Gregory T Jones
  12. Department of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

    • Michael J A Williams
  13. Department of Surgery, Canisius Wilhelmina Hospital Nijmegen, Nijmegen, The Netherlands.

    • Albert P M Boll
  14. University of Akureyri, Borgir vid Nordurslod, Akureyri, Iceland.

    • Kristinn P Magnusson
  15. Weis Center for Research, Geisinger Clinic, Danville, Pennsylvania, USA.

    • Gerard Tromp
    • , David J Carey
    •  & Helena Kuivaniemi
  16. Department of Vascular Surgery, Geisinger Clinic, Danville, Pennsylvania, USA.

    • James R Elmore
  17. University of Liège, Liège, Belgium.

    • Natzi Sakalihasan
    • , Raymond Limet
    •  & Jean-Olivier Defraigne
  18. Department of Human Genetics, University of Pittsburgh School of Public Health, Pittsburgh, Pennsylvania, USA.

    • Robert E Ferrell
  19. Department of Neurosurgery, Kuopio University Hospital, Kuopio, Finland.

    • Antti Ronkainen
  20. Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

    • Ynte M Ruigrok
  21. Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands.

    • Cisca Wijmenga
  22. Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA.

    • Svati H Shah
  23. Department of Medicine and Duke Clinical Research Institute, Duke University Medical Center, Durham, North Carolina, USA.

    • Christopher B Granger
  24. Emory University School of Medicine, Atlanta, Georgia, USA.

    • Arshed A Quyyumi
    • , Viola Vaccarino
    • , Riyaz S Patel
    • , A Maziar Zafari
    •  & Allan I Levey
  25. Cardiff University, Cardiff, UK.

    • Riyaz S Patel
  26. Atlanta Veterans Affairs Medical Center, Decatur, Georgia, USA.

    • A Maziar Zafari
  27. Emory University School of Public Health, Atlanta, Georgia, USA.

    • Harland Austin
  28. Department of Medicine, Section of Internal Medicine, University of Verona, Verona, Italy.

    • Domenico Girelli
    • , Oliviero Olivieri
    •  & Nicola Martinelli
  29. Department of Life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona, Italy.

    • Pier Franco Pignatti
    • , Giovanni Malerba
    •  & Elisabetta Trabetti
  30. The Johns Hopkins GeneSTAR Research Program, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

    • Lewis C Becker
    •  & Diane M Becker
  31. University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

    • Muredach P Reilly
    •  & Daniel J Rader
  32. Department of Laboratory Medicine, Konventhospital Barmherzige Brueder, Linz, Austria.

    • Thomas Mueller
    • , Benjamin Dieplinger
    •  & Meinhard Haltmayer
  33. Vascular Research Unit, Viborg Hospital, Viborg, Denmark.

    • Sigitas Urbonavicius
    •  & Jes S Lindholt
  34. Vascular Center, Skaane University Hospital, Malmö, Sweden.

    • Bengt Lindblad
    •  & Anders Gottsäter
  35. Laboratory of Vascular Biology and Genetics, Department of Medicine, A. Gemelli University Hospital, Catholic University School of Medicine, Rome, Italy.

    • Eleonora Gaetani
    •  & Roberto Pola
  36. Division of Cardiovascular Research, Department of Medicine, Caritas St. Elizabeth′s Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA.

    • Roberto Pola
  37. Department of Medicine ,The Ottawa Hospital, Ottawa, Ontario, Canada.

    • Philip Wells
  38. Division of Hematology, The Ottawa Hospital, Ottawa, Ontario, Canada.

    • Marc Rodger
  39. Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

    • Melissa Forgie
  40. Clinical Epidemiology, The Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.

    • Nicole Langlois
  41. Department of Medicine, University of Murcia, Centro Regional de Hemodonación, Murcia, Spain.

    • Javier Corral
    •  & Vicente Vicente
  42. Hemostasia and Thrombosis Unit, Santa Creu i Sant Pau Hospital, Barcelona, Spain.

    • Jordi Fontcuberta
  43. Research Center, La Fé Hospital, Valencia, Spain.

    • Francisco España
  44. Hagedorn Research Institute, Gentofte, Denmark.

    • Niels Grarup
    • , Torben Hansen
    •  & Oluf Pedersen
  45. Research Centre for Prevention and Health, Glostrup Hospital, Glostrup, Denmark.

    • Torben Jørgensen
  46. Faculty of Health Sciences, University of Copenhagen, Denmark.

    • Torben Jørgensen
  47. Steno Diabetes Center, Gentofte, Denmark.

    • Daniel R Witte
  48. University of Southern Denmark, Odense, Denmark.

    • Torben Hansen
  49. Institute of Biomedical Sciences, University of Copenhagen, Denmark.

    • Oluf Pedersen
  50. Comprehensive Cancer Centre East, Nijmegen, The Netherlands.

    • Katja K Aben
  51. Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

    • Jacqueline de Graaf
    •  & Suzanne Holewijn
  52. Atherosclerosis Research Unit, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

    • Lasse Folkersen
    •  & Per Eriksson
  53. Cardiothoracic Surgery Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

    • Anders Franco-Cereceda
  54. Division of Psychological Medicine and Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK.

    • David A Collier
  55. Landspitali University Hospital, Reykjavik, Iceland.

    • Einar M Valdimarsson
    • , Sigurlaug Sveinbjornsdottir
    • , Isleifur Olafsson
    • , Magnus Karl Magnusson
    • , Robert Palmason
    • , Vilhelmina Haraldsdottir
    • , Karl Andersen
    • , Pall T Onundarson
    •  & Gudmundur Thorgeirsson
  56. Upper Valley Neurology Neurosurgery, Lebanon, New Hampshire, USA.

    • Hulda B Magnadottir
  57. University of Iceland, Faculty of Medicine, Reykjavik, Iceland.

    • Magnus Karl Magnusson
    • , Vilhelmina Haraldsdottir
    • , Karl Andersen
    • , Pall T Onundarson
    • , Gudmundur Thorgeirsson
    • , Stefan E Matthiasson
    • , Unnur Thorsteinsdottir
    •  & Kari Stefansson
  58. Department of Urology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

    • Lambertus A Kiemeney
  59. Imperial College at Charing Cross, London, UK.

    • Janet T Powell
  60. Division of Surgery, VU Medical Center Amsterdam, Amsterdam, The Netherlands.

    • Jan D Blankensteijn
  61. Department of Vascular Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

    • Jan D Blankensteijn


  1. Search for Solveig Gretarsdottir in:

  2. Search for Annette F Baas in:

  3. Search for Gudmar Thorleifsson in:

  4. Search for Hilma Holm in:

  5. Search for Martin den Heijer in:

  6. Search for Jean-Paul P M de Vries in:

  7. Search for Steef E Kranendonk in:

  8. Search for Clark J A M Zeebregts in:

  9. Search for Steven M van Sterkenburg in:

  10. Search for Robert H Geelkerken in:

  11. Search for Andre M van Rij in:

  12. Search for Michael J A Williams in:

  13. Search for Albert P M Boll in:

  14. Search for Jelena P Kostic in:

  15. Search for Adalbjorg Jonasdottir in:

  16. Search for Aslaug Jonasdottir in:

  17. Search for G Bragi Walters in:

  18. Search for Gisli Masson in:

  19. Search for Patrick Sulem in:

  20. Search for Jona Saemundsdottir in:

  21. Search for Magali Mouy in:

  22. Search for Kristinn P Magnusson in:

  23. Search for Gerard Tromp in:

  24. Search for James R Elmore in:

  25. Search for Natzi Sakalihasan in:

  26. Search for Raymond Limet in:

  27. Search for Jean-Olivier Defraigne in:

  28. Search for Robert E Ferrell in:

  29. Search for Antti Ronkainen in:

  30. Search for Ynte M Ruigrok in:

  31. Search for Cisca Wijmenga in:

  32. Search for Diederick E Grobbee in:

  33. Search for Svati H Shah in:

  34. Search for Christopher B Granger in:

  35. Search for Arshed A Quyyumi in:

  36. Search for Viola Vaccarino in:

  37. Search for Riyaz S Patel in:

  38. Search for A Maziar Zafari in:

  39. Search for Allan I Levey in:

  40. Search for Harland Austin in:

  41. Search for Domenico Girelli in:

  42. Search for Pier Franco Pignatti in:

  43. Search for Oliviero Olivieri in:

  44. Search for Nicola Martinelli in:

  45. Search for Giovanni Malerba in:

  46. Search for Elisabetta Trabetti in:

  47. Search for Lewis C Becker in:

  48. Search for Diane M Becker in:

  49. Search for Muredach P Reilly in:

  50. Search for Daniel J Rader in:

  51. Search for Thomas Mueller in:

  52. Search for Benjamin Dieplinger in:

  53. Search for Meinhard Haltmayer in:

  54. Search for Sigitas Urbonavicius in:

  55. Search for Bengt Lindblad in:

  56. Search for Anders Gottsäter in:

  57. Search for Eleonora Gaetani in:

  58. Search for Roberto Pola in:

  59. Search for Philip Wells in:

  60. Search for Marc Rodger in:

  61. Search for Melissa Forgie in:

  62. Search for Nicole Langlois in:

  63. Search for Javier Corral in:

  64. Search for Vicente Vicente in:

  65. Search for Jordi Fontcuberta in:

  66. Search for Francisco España in:

  67. Search for Niels Grarup in:

  68. Search for Torben Jørgensen in:

  69. Search for Daniel R Witte in:

  70. Search for Torben Hansen in:

  71. Search for Oluf Pedersen in:

  72. Search for Katja K Aben in:

  73. Search for Jacqueline de Graaf in:

  74. Search for Suzanne Holewijn in:

  75. Search for Lasse Folkersen in:

  76. Search for Anders Franco-Cereceda in:

  77. Search for Per Eriksson in:

  78. Search for David A Collier in:

  79. Search for Hreinn Stefansson in:

  80. Search for Valgerdur Steinthorsdottir in:

  81. Search for Thorunn Rafnar in:

  82. Search for Einar M Valdimarsson in:

  83. Search for Hulda B Magnadottir in:

  84. Search for Sigurlaug Sveinbjornsdottir in:

  85. Search for Isleifur Olafsson in:

  86. Search for Magnus Karl Magnusson in:

  87. Search for Robert Palmason in:

  88. Search for Vilhelmina Haraldsdottir in:

  89. Search for Karl Andersen in:

  90. Search for Pall T Onundarson in:

  91. Search for Gudmundur Thorgeirsson in:

  92. Search for Lambertus A Kiemeney in:

  93. Search for Janet T Powell in:

  94. Search for David J Carey in:

  95. Search for Helena Kuivaniemi in:

  96. Search for Jes S Lindholt in:

  97. Search for Gregory T Jones in:

  98. Search for Augustine Kong in:

  99. Search for Jan D Blankensteijn in:

  100. Search for Stefan E Matthiasson in:

  101. Search for Unnur Thorsteinsdottir in:

  102. Search for Kari Stefansson in:


The study was designed and results interpreted by S.G., A.F.B., H.H., G. Thorleifsson, U.T. and K.S. The first draft was written by S.G., A.F.B., H.H., G. Thorleifsson and U.T. Statistical analysis was performed by G. Thorleifsson, A.K., P.S., G. Masson and G.B.W. Expression analysis was designed and implemented by Adalbjorg Jonasdottir and Aslaug Jonasdottir. Biological material collection and handling was supervised by J.S., S.G., K.P.M. and U.T. Genotyping was supervised by S.G., M.M., J.P.K. and U.T. Collection of vessel wall biopsies and gene expression analyses in aorta and mammary artery were performed by L.F., A.F.-C. and P.E. Those responsible for patient and control ascertainment, recruitment and phenotypic information were S.E.M. and S.G. (AAA and PAD Iceland); A.F.B., M.d.H., J.-P.P.M.d.V., S.E.K., C.J.A.M.Z., S.M.v.S., R.H.G., D.E.G. and J.D.B. (AAA Utrecht, The Netherlands); G.T.J. and A.M.v.R., (AAA, PAD and controls, New Zealand); A.P.M.B. (AAA and controls, Nijmegen, The Netherlands); S.U. and J.S.L. (AAA and PAD, Denmark); N.S., R.L., J.-O.D. and H.K. (AAA and controls, Belgium); H.K. (AAA and controls, Canada); H.K. and R.E.F. (AAA, Pittsburgh); J.R.E. and D.J.C. (AAA, PAD and controls, Danville, Pennsylvania); J.T.P. (AAA, UK); T.M., B.D. and M.H. (PAD and controls, Austria); E.G. and R. Pola (PAD and controls, Italy); B.L. and A.G. (PAD and controls, Sweden); K.A. and G. Thorgeirsson (MI, Iceland); L.C.B. and D.M.B. (MI and controls, Baltimore); G.T.J. and M.J.A.W. (MI, New Zealand); S.H.S. and C.B.G. (MI, Durham, North Carolina); V. Vaccarino, R.S.P., A.M.Z. and A.A.Q. (MI, Atlanta); E.T., G. Malerba, N.M., O.O., P.F.P. and D.G. (MI and controls, Italy); M.P.R. and D.J.R. (MI, Philadelphia); I.O., M.K.M., R. Palmason, V.H. and P.T.O. (VTE, Iceland); N.L., M.F., M.R. and P.W. (VTE and controls, Canada); F.E., J.F., V. Vicente and J.C. (VTE and controls, Spain); S.G., S.S. and E.M.V. (stroke, Iceland); S.G., H.B.M. and E.M.V. (IA, Iceland); G. Tromp and A.R. (IA and controls, Finland); C.W. and Y.M.R. (IA, The Netherlands); G.B.W. and G. Thorleifsson (obesity, Iceland); V.S. (type 2 diabetes, Iceland); H.H. (hypertension, Iceland); G. Thorleifsson and H.S. (smoking, Iceland); T.R., K.K.A., J.d.G., S.H. and L.A.K. (controls, Nijmegen, The Netherlands); V.S., T.H., D.R.W., T.J., N.G. and O.P. (controls, Denmark); H.A. and A.I.L. (controls, Atlanta); and H.S. and D.A.C. (controls, UK). All authors contributed to the final version of the paper.

Competing interests

Authors whose affiliations are listed as deCODE Genetics are employees of deCODE Genetics, a biotechnology company. deCODE Genetics intends to incorporate the variants described in this paper into its genetic testing services.

Corresponding authors

Correspondence to Solveig Gretarsdottir or Kari Stefansson.

Supplementary information

PDF files

  1. 1.

    Supplementary Text and Figures

    Supplementary Note, Supplementary Figures 1 and 2 and Supplementary Tables 1–7

About this article

Publication history






Further reading