The genetic basis for aortic aneurysmal disease

Heart

Volumn 100, Issue 12, 2014, Pages 916-922

  Saratzis, Athanasios ^a   Bown, Matthew J ^b  

^a UNIVERSITY HOSPITALS COVENTRY AND WARWICKSHIRE NHS TRUST   (United Kingdom)

^b UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; DAB2 INTERACTING PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; MATRIX METALLOPROTEINASE; MEMBRANE PROTEIN; PROTEIN ELN; SORTILIN; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ABDOMINAL AORTA ANEURYSM; AORTA ANEURYSM; ARTICLE; ATHEROSCLEROSIS; EFFECT SIZE; EPIGENETICS; FAMILY HISTORY; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; HISTOPATHOLOGY; HUMAN; LIPID METABOLISM; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN DEGRADATION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; THORACIC AORTA ANEURYSM;

GENETICS;

ANIMALS; AORTIC ANEURYSM, ABDOMINAL; AORTIC ANEURYSM, THORACIC; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PHENOTYPE; RISK FACTORS;

EID: 84901403402     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/heartjnl-2013-305130     Document Type: Article

References (63)

1. Cosford PA, Leng GC. Screening for abdominal aortic aneurysm. Cochrane Database Syst Rev 2007:(2)CD002945.
2. Svensjo S, Bjorck M, Gurtelschmid M, et al. Low prevalence of abdominal aortic aneurysm among 65-year-old Swedish men indicates a change in the epidemiology of the disease. Circulation 2011;124:1118-23.
3. Norman PE, Jamrozik K, Lawrence-Brown MM, et al. Population based randomised controlled trial on impact of screening on mortality from abdominal aortic aneurysm. BMJ 2004;329:1259.
4. Saratzis A, Abbas AA, Kiskinis D, et al. Abdominal aortic aneurysm: a review of the genetic basis. Angiology 2011;62:18-32.
5. Wahlgren CM, Larsson E, Magnusson PK, et al. Genetic and environmental contributions to abdominal aortic aneurysm development in a twin population. J Vasc Surg 2010;51:3-7; discussion
6. Clouse WD, Hallett JW Jr, Schaff HV, et al. Improved prognosis of thoracic aortic aneurysms: a population-based study. JAMA 1998;280:1926-9. (Pubitemid 28559810)
7. Webb TH, Williams GM. Thoracoabdominal aneurysm repair. Cardiovasc Surg 1999;7:573-85. (Pubitemid 29385516)
8. Albornoz G, Coady MA, Roberts M, et al. Familial thoracic aortic aneurysms and dissections-incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg 2006;82:1400-5. (Pubitemid 44402354)
9. De Bruin JL, Baas AF, Buth J, et al. Long-term outcome of open or endovascular repair of abdominal aortic aneurysm. N Engl J Med 2010;362:1881-9.
10. Nordon IM, Hinchliffe RJ, Loftus IM, et al. Pathophysiology and epidemiology of abdominal aortic aneurysms. Nat Rev Cardiol 2011;8:92-102.
11. Saratzis A, Melas N, Hunter JP, et al. Anemia is associated with mortality following endovascular repair of abdominal aortic aneurysm. Vasc Endovascular Surg 2012;46:223-8.
12. Lederle FA, Johnson GR, Wilson SE, et al. Relationship of age, gender, race, and body size to infrarenal aortic diameter. The Aneurysm Detection and Management (ADAM) Veterans Affairs Cooperative Study Investigators. J Vasc Surg 1997;26:595-601.
13. Johansen K, Koepsell T. Familial tendency for abdominal aortic aneurysms. JAMA 1986;256:1934-6. (Pubitemid 16033398)
14. Kuivaniemi H, Tromp G, Prockop DJ. Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say. J Clin Invest 1991;88:1441-4.
15. Kuivaniemi H, Shibamura H, Arthur C, et al. Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg 2003;37:340-5. (Pubitemid 36236911)
16. Cury M, Zeidan F, Lobato AC. Aortic disease in the young: genetic aneurysm syndromes, connective tissue disorders, and familial aortic aneurysms and dissections. Int J Vasc Med 2013;2013:267215.
17. Loeys B, De Backer J, Van Acker P, et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004;24:140-6. (Pubitemid 39006593)
18. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-9. (Pubitemid 21912353)
19. Dallas SL, Miyazono K, Skerry TM, et al. Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein. J Cell Biol 1995;131:539-49.
20. Holm TM, Habashi JP, Doyle JJ, et al. Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science 2011;332:358-61.
21. Bilen E, Akcay M, Bayram NA, et al. Aortic elastic properties and left ventricular diastolic function in patients with isolated bicuspid aortic valve. J Heart Valve Dis 2012;21:189-94.
22. van de Laar IM, van der Linde D, Oei EH, et al. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet 2012;49: 47-57.
23. Coucke PJ, Willaert A, Wessels MW, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 2006;38:452-7.
24. Biddinger A, Rocklin M, Coselli J, et al. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg 1997;25:506-11. (Pubitemid 27136975)
25. Hoel AW. Aneurysmal disease: thoracic aorta. Surg Clin North Am 2013;93:893-910, ix.
26. Thornell LE, Norrgard O, Eriksson A, et al. Abdominal aortic aneurysms: distribution of elastin, collagen I and III, and intermediate filament proteins desmin and vimentin-a comparison of familial and nonfamilial aneurysms. Heart Vessels 1986;2:172-83. (Pubitemid 18015170)
27. Schlatmann TJ, Becker AE. Histologic changes in the normal aging aorta: implications for dissecting aortic aneurysm. Am J Cardiol 1977;39:13-20. (Pubitemid 8022419)
28. Ruddy JM, Jones JA, Ikonomidis JS. Pathophysiology of thoracic aortic aneurysm (TAA): is it not one uniform aorta? Role of embryologic origin. Prog Cardiovasc Dis 2013;56:68-73.
29. Annambhotla S, Bourgeois S, Wang X, et al. Recent advances in molecular mechanisms of abdominal aortic aneurysm formation. World J Surg 2008;32:976-86.
30. Yuan SM, Jing H. Cystic medial necrosis: pathological findings and clinical implications. Rev Bras Cir Cardiovasc 2011;26:107-15.
31. He R, Guo DC, Estrera AL, et al. Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending thoracic aortic aneurysms and dissections. J Thorac Cardiovasc Surg 2006;131:671-8.
32. Hinterseher I, Tromp G, Kuivaniemi H. Genes and abdominal aortic aneurysm. Ann Vasc Surg 2011;25:388-412.
33. Morris DR, Biros E, Cronin O, et al. The association of genetic variants of matrix metalloproteinases with abdominal aortic aneurysm: a systematic review and meta-analysis. Heart 2014;100:295-302.
34. Saracini C, Bolli P, Sticchi E, et al. Polymorphisms of genes involved in extracellular matrix remodeling and abdominal aortic aneurysm. J Vasc Surg 2012;55:171-9 e2.
35. Saratzis A, Bown M, Wild B, et al. C-reactive protein polymorphism rs3091244 is associated with abdominal aortic aneurysm. J Vasc Surg 2013 (13)01456-0. 10.1016/j.jvs.2013.07.105
36. Biros E, Norman PE, Jones GT, et al. Meta-analysis of the association between single nucleotide polymorphisms in TGF-beta receptor genes and abdominal aortic aneurysm. Atherosclerosis 2011;219:218-23.
37. Saratzis A, Bown MJ, Wild B, et al. Association between seven single nucleotide polymorphisms involved in inflammation and proteolysis and abdominal aortic aneurysm. J Vasc Surg. 2014(14)00170-0. 10.1016/j.jvs.2013.11.099.
38. Jones GT, Bown MJ, Gretarsdottir S, et al. A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm. Hum Mol Genet 2013;22:2941-7.
39. Helgadottir A, Thorleifsson G, Magnusson KP, et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet 2008;40:217-24. (Pubitemid 351171400)
40. Shibamura H, Olson JM, van Vlijmen-Van Keulen C, 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 2004;109:2103-8. (Pubitemid 38620219)
41. Van Vlijmen-Van Keulen CJ, Rauwerda JA, Pals G. Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3. Eur J Vasc Endovasc Surg 2005;30:29-35. (Pubitemid 40775129)
42. Elmore JR, Obmann MA, Kuivaniemi H, et al. Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association. J Vasc Surg 2009;49:1525-31.
43. Jones GT, van Rij AM. Regarding "Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association". J Vasc Surg 2009;50:1246-7; author reply 7.
44. Gretarsdottir S, Baas AF, Thorleifsson G, et al. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet 2010;42:692-7.
45. Bown MJ, Jones GT, Harrison SC, et al. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am J Hum Genet 2011;89:619-27.
46. Wild JB, Stather PW, Sylvius N, et al. Low density lipoprotein receptor related protein 1 and abdominal aortic aneurysms. Eur J Vasc Endovasc Surg 2012;44:127-32.
47. Bradley DT, Hughes AE, Badger SA, et al. A Variant in LDLR Is Associated With Abdominal Aortic Aneurysm. Circ Cardiovasc Genet 2013;6:498-504.
48. Pomianowski P, Elefteriades JA. The genetics and genomics of thoracic aortic disease. Ann Cardiothorac Surg 2013;2:271-9.
49. Wang L, Guo DC, Cao J, et al. Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet 2010;87:701-7.
50. Al-Mohaissen M, Allanson JE, O'Connor MD, et al. Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. Vasc Med 2012;17:326-9.
51. Renard M, Callewaert B, Baetens M, et al. Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFbeta signaling in FTAAD. Int J Cardiol 2013;165:314-21.
52. Lemaire SA, McDonald ML, Guo DC, et al. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet 2011;43:996-1000.
53. Keramati AR, Sadeghpour A, Farahani MM, et al. The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus. BMC Med Genet 2010;11:143.
54. Foffa I, Ait Ali L, Panesi P, et al. Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve. BMC Med Genet 2013;14:44.
55. Zou S, Ren P, Nguyen M, et al. Notch signaling in descending thoracic aortic aneurysm and dissection. PloS ONE 2012;7:e52833.
56. Ashworth JL, Murphy G, Rock MJ, et al. Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling. Biochem J 1999;340(Pt 1):171-81. (Pubitemid 29251104)
57. Fedak PW, de Sa MP, Verma S, et al. Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. J Thorac Cardiovasc Surg 2003;126:797-806. (Pubitemid 37151966)
58. Chouliaras L, Rutten BP, Kenis G, et al. Epigenetic regulation in the pathophysiology of Alzheimer's disease. Prog Neurobiol 2010;90:498-510.
59. Wanhainen A, Bjorck M, Boman K, et al. Influence of diagnostic criteria on the prevalence of abdominal aortic aneurysm. J Vasc Surg 2001;34:229-35. (Pubitemid 33661118)
60. Saratzis A, Kitas GD, Saratzis N, et al. Can statins suppress the development of abdominal aortic aneurysms? A review of the current evidence. Angiology 2010;61:137-44.
61. van Bogerijen GH, Tolenaar JL, Grassi V, et al. Biomarkers in TAA-the Holy Grail. Prog Cardiovasc Dis 2013;56:109-15.
62. Tsui JC. Experimental models of abdominal aortic aneurysms. Open Cardiovasc Med J 2010;4:221-30.
63. Daugherty A, Cassis LA. Mouse models of abdominal aortic aneurysms. Arterioscler Thromb Vasc Biol 2004;24:429-34. (Pubitemid 38326134)