Expanding Horizons for Abdominal Aortic Aneurysms

Rachel C. Rolph; Matthew Waltham; Alberto Smith; Helena Kuivaniemi

doi:10.12945/j.aorta.2015.14-041

AORTA, Table of Contents

CC BY 4.0 · Aorta (Stamford) 2015; 03(01): 9-15
DOI: 10.12945/j.aorta.2015.14-041

State-of-the-Art Review

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Expanding Horizons for Abdominal Aortic Aneurysms

Rachel C. Rolph

¹King’s College London, BHF Centre of Research Excellence & NIHR Biomedical Research Centre at King’s Health Partners, Academic Department of Surgery, Cardiovascular Division and Division of Imaging Sciences, St Thomas’ Hospital, London, UK

,

Matthew Waltham

¹King’s College London, BHF Centre of Research Excellence & NIHR Biomedical Research Centre at King’s Health Partners, Academic Department of Surgery, Cardiovascular Division and Division of Imaging Sciences, St Thomas’ Hospital, London, UK

,

Alberto Smith

¹King’s College London, BHF Centre of Research Excellence & NIHR Biomedical Research Centre at King’s Health Partners, Academic Department of Surgery, Cardiovascular Division and Division of Imaging Sciences, St Thomas’ Hospital, London, UK

,

Helena Kuivaniemi

²The Sigfried and Janet Weis Center for Research, Geisinger Health System, Danville, Pennsylvania, USA

³Department of Surgery, Temple University School of Medicine, Philadelphia, Pennsylvania, USA

› Author Affiliations

Abstract

Recent technological advances have allowed researchers to interrogate the genetic basis of abdominal aortic aneurysms in great detail. The results from these studies are expected to transform our understanding of this complex disease with both multiple genetic and environmental risk factors. Clinicians need to keep abreast of these genetic findings and understand the implications for their practice. Patients will become increasingly informed on genetic risk, and a new era of individualized risk assessment for AAA is just beginning. This brief update aims to provide the clinician with a succinct précis of the recent progress in this area.

Key Words

Genetic - Association Studies - Risk score - Aneurysm - DNA Sequencing

Full Text

References

References
1 Sakalihasan N, Limet R, Defawe OD. Abdominal aortic aneurysm. Lancet 2005; 365: 1577-1589 . DOI: 10.1016/S0140-6736(05)66459-8
2 Kuivaniemi H, Tromp G, Carey DJ, Elmore JR. The molecular biology and genetics of aneurysms. . In: Homeister JW, Willis MS. Molecular and Translational Vascular Medicine. New York: Springer Science+Business Media; 2012. , p. 3-33 . DOI: 10.1007/978-1-61779-906-8_1
3 Clifton MA. Familial abdominal aortic aneurysms. Br J Surg 1977; 64: 765-766 . DOI: 10.1002/bjs.1800641102
4 Johansen K, Koepsell T. Familial tendency for abdominal aortic aneurysms. JAMA 1986; 256: 1934-1936 . DOI: 10.1001/jama.1986.03380140104031
5 Larsson E, Granath F, Swedenborg J, Hultgren R. A population-based case-control study of the familial risk of abdominal aortic aneurysm. J Vasc Surg 2009; 49: 47-50 . DOI: 10.1016/j.jvs.2008.08.012
6 Wahlgren CM, Larsson E, Magnusson PK, Hultgren R, Swedenborg J. Genetic and environmental contributions to abdominal aortic aneurysm development in a twin population. J Vasc Surg 2010; 51: 3-7 . DOI: 10.1016/j.jvs.2009.08.036
7 Tilson MD, Seashore MR. Human genetics of the abdominal aortic aneurysm. Surg Gynecol Obstet 1984; 158: 129-132 . PMID: 6695305
8 Golledge J, Kuivaniemi H. Genetics of abdominal aortic aneurysm. Curr Opin Cardiol 2013; 28: 290-296 . DOI: 10.1097/HCO.0b013e32835f0d55
9 Kuivaniemi H, Ryer EJ, Yoon YR, Elmore JR. Genetic risk factors for abdominal aortic aneurysms. In: Fischhof D, Hatig F. Aortic aneurysms: risk factors, diagnosis, surgery & repair. Hauppauge, NY: Nova Science Publishers, Inc.; 2013. , p. 1-30 ISBN: 978-1-62618-459-6
10 Sakalihasan N, Defraigne J, Kerstenne M, Cheramy-Bien J, Smelser DT, Tromp G. , et al. Family members of patients with abdominal aortic aneurysms are at increased risk for aneurysms: Analysis of 618 probands and their families from the Liege AAA Family Study. Ann Vasc Surg 2014; 28: 787-797 . DOI: 10.1016/j.avsg.2013.11.005
11 Kuivaniemi H, Shibamura H, Arthur C, Berguer R, Cole CW, Juvonen T. , et al. Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg 2003; 37: 340-345 . DOI: 10.1067/mva.2003.71
12 Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, Jonasdottir A. , et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007; 316: 1491-1493 . DOI: 10.1126/science.1142842
13 Helgadottir A, Thorleifsson G, Magnusson KP, Grétarsdottir S, Steinthorsdottir V, Manolescu A. , et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet 2008; 40: 217-224 . DOI: 10.1038/ng.72
14 Thompson AR, Cooper JA, Jones GT, Drenos F, van Bockxmeer FM, Biros E, Biros E. , et al. Assessment of the association between genetic polymorphisms in transforming growth factor beta, and its binding protein (LTBP), and the presence, and expansion, of abdominal aortic aneurysm. Atherosclerosis 2010; 209: 367-373 . DOI: 10.1016/j.atherosclerosis.2009.09.073
15 Gretarsdottir S, Baas AF, Thorleifsson G, Holm H, den Heijer M, de Vries JP. et al. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet 2010; 42: 692-697 DOI: 10.1038/ng.622
16 Xie D, Gorea C, Zhoua J, Ponga R, Zhangc H, Yu L. , et al. DAB2IP coordinates both PI3K-Akt and ASK1 pathways for cell survival and apoptosis. Proc Natl Acad Sci USA 2009; 106: 19878-19883 . DOI: 10.1073/pnas.0908458106
17 Bown MJ, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF. , et al. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am J Hum Genet 2011; 89: 619-627 . DOI: 10.1016/j.ajhg.2011.10.002
18 Wild JB, Stather PW, Sylvius N, Choke E, Sayers RD, Bown MJ. Low density lipoprotein receptor related protein 1 and abdominal aortic aneurysms. Eur J Vasc Endovasc Surg 2012; 44: 127-132 . DOI: 10.1016/j.ejvs.2012.05.009
19 Bradley DT, Hughes AE, Badger SA, Jones GT, Harrison SC, Wright BJ. , et al. A variant in ldlr is associated with abdominal aortic aneurysm. Circ Cardiovasc Genet 2013; 6: 498-504 . DOI: 10.1161/CIRCGENETICS.113.000165
20 Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM. , et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010; 42: 30-35 . DOI: 10.1038/ng.499
21 Regalado ES, Guo D, Villamizar C, Avidan N, Gilchrist D, McGillivray B. , et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 2011; 109: 680-686 . DOI: 10.1161/CIRCRE-SAHA.111.248161
22 Do R, Kathiresan S, Abecasis GR. Exome sequencing and complex disease: practical aspects of rare variant association studies. Hum Mol Genet 2012; 21: R1-9 . DOI: 10.1093/hmg/dds387
23 Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H. , et al. Clinical interpretation and implications of whole-genome sequencing. JAMA 2014; 311: 1035-1045 . DOI: 10.1001/jama.2014.1717
24 Kim WY, Sharpless NE. The regulation of INK4/ARF in cancer and aging. Cell 2006; 127: 265-275 . DOI: 10.1016/j.cell.2006.10.003
25 Kotake Y, Nakagawa T, Kitagawa K, Suzuki S, Liu N, Kitagawa M. , et al. Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15(INK4B) tumor suppressor gene. Oncogene 2011; 30: 1956-1962 . DOI: 10.1038/onc.2010.568
26 Visel A, Zhu Y, May D, Afzal V, Gong E, Attanasio C. , et al. Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature 2010; 464: 409-412 . DOI: 10.1038/nature08801
27 Leeper NJ, Leeper NJ, Raiesdana A, Kojima Y, Kundu RK, Cheng H, Maegdefessel L. , et al. Loss of CDKN2B promotes p53-dependent smooth muscle cell apoptosis and aneurysm formation. Arterioscler Thromb Vasc Biol 2013; 33: e1-e10 . DOI: 10.1161/ATVBAHA.112.300399
28 Johnson AD, Hwang S, Voorman A, Morrison A, Peloso GM, Hsu Y. , et al. Resequencing and clinical associations of the 9p21.3 region: a comprehensive investigation in the Framingham heart study. Circulation 2013; 127: 799-810 . DOI: 10.1161/CIRCULATIONAHA.112.111559
29 Harismendy O, Notani D, Song X, Rahim NG, Tanasa B, Heintzman N. , et al. 9p21 DNA variants associated with coronary artery disease impair interferon-gamma signalling response. Nature 2011; 470: 264-268 . DOI: 10.1038/nature09753
30 Greco G, Egorova NN, Gelijns AC, Moskowitz AJ, Manganaro AJ, Zwolak RM. , et al. Development of a novel scoring tool for the identification of large >/=5 cm abdominal aortic aneurysms. Ann Surg 2010; 252: 675-682 . DOI: 10.1097/SLA.0b013e3181f621c8
31 Kent KC, Zwolak RM, Egorova NN, Riles TS, Manganaro A, Moskowitz AJ. , et al. Analysis of risk factors for abdominal aortic aneurysm in a cohort of more than 3 million individuals. J Vasc Surg 2010; 52: 539-548 . DOI: 10.1016/j.jvs.2010.05.090
32 Nguyen TV, Eisman JA. Genetic profiling and individualized assessment of fracture risk. Nat Rev Endocrinol 2013; 9: 153-161 . DOI: 10.1038/nrendo.2013.3
33 Hawken SJ, Greenwood CM, Hudson TJ, Kustra R, McLaughlin J, Yang Q. , et al. The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer. Hum Genet 2010; 128: 89-101 . DOI: 10.1007/s00439-010-0828-1
34 van der Net JB, Janssens AC, Sijbrands EJ, Steyerberg EW. Value of genetic profiling for the prediction of coronary heart disease. Am Heart J 2009; 158: 105-110 . DOI: 10.1016/j.ahj.2009.04.022
35 Morris DR, Biros E, Cronin O, Kuivaniemi H, Golledge J. The association of genetic variants of matrix metalloproteinases with abdominal aortic aneurysm: A systematic review and meta-analysis. Heart 2014; 100: 295-302 . DOI: 10.1136/heart-jnl-2013-304129
36 Galora S, Saracini C, Palombella AM, Pratesi G, Pulli R, Pratesi C. , et al. Low-density lipoprotein receptor-related protein 5 gene polymorphisms and genetic susceptibility to abdominal aortic aneurysm. J Vasc Surg 2013; Oct; 58 (04) 1062-8.e1 . DOI: 10.1016/j.jvs.2012.11.092
37 Jones GT, Bown MJ, Gretarsdottir S, Romaine SP, Helgadottir A, Yu G. , et al. A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm. Hum Mol Genet 2013; Jul 15; 22 (14) 2941-7 . DOI: 10.1093/hmg/ddt141
38 Helgadottir A, Gretarsdottir S, Thorleifsson G, Holm H, Patel RS, Gudnason T. , et al. Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism. J Am Coll Cardiol 2012; 60: 722-729 . DOI: 10.1016/j.jacc.2012.01.078
39 Harrison SC, Smith AJ, Jones GT, Swerdlow DI, Rampuri R, Bown MJ. , et al. Interleukin-6 receptor pathways in abdominal aortic aneurysm. Eur Heart J 2013; 34: 3707-3716 . DOI: 10.1093/eurheartj/ehs354
40 Saracini C, Bolli P, Sticchi E, Pratesi G, Pulli R, Sofi F. , et al. Polymorphisms of genes involved in extracellular matrix remodeling and abdominal aortic aneurysm. J Vasc Surg 2012; 55: 171-179e2 . DOI: 10.1016/j.jvs.2011.07.051
41 Biros E, Norman PE, Jones GT, van Rij AM, Yu G, Moxon JV. , et al. Meta-analysis of the association between single nucleotide polymorphisms in TGF-beta receptor genes and abdominal aortic aneurysm. Atherosclerosis 2011; 219: 218-223 . DOI: 10.1016/j.atherosclerosis.2011.07.105
42 McColgan P, Peck GE, Greenhalgh RM, Sharma P. The genetics of abdominal aortic aneurysms: a comprehensive meta-analysis involving eight candidate genes in over 16,700 patients. Int Surg 2009; 94: 350-358 . PMID: 20302034
43 Jones GT, Thompsom AR, Van Bockxmeer FM, Hafez H, Cooper J, Golledge J. , et al. Angiotensin II type 1 receptor 1166C polymorphism is associated with abdominal aortic aneurysm in three independent cohorts. Arterioscler Thromb Vasc Biol 2008; 28: 764-770 . DOI: 10.1161/ATVBA-HA.107.155564
44 Giusti B, Saracini C, Bolli P, Magi A, Sestini I, Sticchi E. , et al. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. J Med Genet 2008; 45: 721-730 . DOI: 10.1136/jmg.2008.057851

References
1 Duellman T, Warren CL, Matsumura J, Yang J. Analysis of multiple genetic polymorphisms in aggressive-growing and slow-growing abdominal aortic aneurysms. J Vasc Surg 2014; 60: 613-621 10.1016/j.jvs.2014.03.274