The Genetic Basis of Abdominal Aortic Aneurysms: A Review

European Journal of Vascular and Endovascular Surgery

Volumn 33, Issue 4, 2007, Pages 381-390

  Sandford, R M ^a   Bown, M J ^a   London, N J ^a   Sayers, R D ^a  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

Abdominal aortic aneurysms; genes

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CHEMOKINE RECEPTOR CCR2; CHEMOKINE RECEPTOR CCR5; COLLAGEN; COLLAGENASE 3; DIPEPTIDYL CARBOXYPEPTIDASE; ELASTASE; ELASTIN; GELATINASE A; GELATINASE B; HLA ANTIGEN; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 6; INTERSTITIAL COLLAGENASE; MACROPHAGE ELASTASE; MATRILYSIN; NEUTROPHIL COLLAGENASE; NITRIC OXIDE SYNTHASE; PLASMINOGEN ACTIVATOR INHIBITOR 1; THROMBOCYTE ACTIVATING FACTOR; TISSUE INHIBITOR OF METALLOPROTEINASE;

ABDOMINAL AORTA ANEURYSM; CHRONIC INFLAMMATION; FAMILIAL DISEASE; FAMILY HISTORY; FAMILY STUDY; GENE FUNCTION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HUMAN; INHERITANCE; MEDICAL LITERATURE; MEDLINE; OBSERVATIONAL STUDY; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SEGREGATION ANALYSIS;

AORTIC ANEURYSM, ABDOMINAL; FAMILY; GENETIC PREDISPOSITION TO DISEASE; HLA ANTIGENS; HUMANS; INCIDENCE; INFLAMMATION; INHERITANCE PATTERNS; INTERLEUKINS; MATRIX METALLOPROTEINASES, SECRETED; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MODELS, GENETIC; NITRIC OXIDE SYNTHASE; PEPTIDYL-DIPEPTIDASE A; PLASMINOGEN ACTIVATOR INHIBITOR 1; PLATELET ACTIVATING FACTOR; POLYMORPHISM, GENETIC; RECEPTORS, CHEMOKINE; TISSUE INHIBITOR OF METALLOPROTEINASES;

EID: 33847354330     PISSN: 10785884     EISSN: 15322165     Source Type: Journal    
DOI: 10.1016/j.ejvs.2006.10.025     Document Type: Review

References (69)

1. Filipovic M., Goldacre M.J., Roberts S.E., Yeates D., Duncan M.E., and Cook-Mozaffari P. Trends in mortality and hospital admission rates for abdominal aortic aneurysm in England and Wales, 1979-1999. Br J Surg 92 8 (2005) 968-975
2. Singh K., Bønaa K.H., Jacobsen B.K., Bjørk L., and Solberg S. Prevalence of and risk factors for abdominal aortic aneurysms in a population-based study: the Tromsø Study. Am J Epidemiol 154 3 (2001) 236-244
3. Thompson R.W., and Parks W.C. Role of matrix metalloProteinases in abdominal aortic aneurysms. Ann N Y Acad Sci 800 (1996) 157-174
4. Liapis C.D., and Paraskevas K.I. The pivotal role of matrix metalloProteinases in the development of human abdominal aortic aneurysms. Vasc Med 8 4 (2003) 267-271
5. Blanchard J.F., Armenian H.K., and Friesen P.P. Risk factors for abdominal aortic aneurysm: results of a case-control study. Am J Epidemiol 151 6 (2000) 575-583
6. Linbald B., Borner G., and Gottsaer A. Factors associated with development of large abdominal aortic aneurysm in middle-aged men. Eur J Vasc Endovasc Surg 30 4 (2005) 346-352
7. Wanhainen A., Bergqvist D., Boman K., Nilsson T.K., Rutegard J., and Bjork M. Risk factors associated with abdominal aortic aneurysm: a population based study with historical and current data. J Vasc Surg 41 3 (2005) 390-396
8. Vardulaki K.A., Walker N.M., Day N.E., Duffy S.W., Ashton H.A., and Sott R.A. Quantifying the risks of hypertension, age, sex and smoking in patients with abdominal aortic aneurysm. Br J Surg 87 2 (2000) 195-200
9. Lampe F.C., Morris R.W., Walker M., Sharpe A.G., and Whincup P.H. Trends in rates of different forms of diagnosed coronary heart disease, 1978 to 2000: prospective, population based study of British men. Br Med J 330 (2005) 1046
10. Johansen K., and Koepsell T. Familial tendency for abdominal aortic aneurysms. JAMA 256 (1986) 1934-1936
11. Clifton M.A. Familial abdominal aortic aneurysms. Br J Surg 64 (1977) 765-767
12. Hammond E.C., and Garfinkel L. Coronary heart disease, stroke and aortic aneurysm: factors in the etiology. Arch Environ Health 19 (1969) 167-182
13. Darling R.C., Brewster D.C., Darling C., LaMuraglia G.M., Moncure A.C., Cambria R.P., et al. Are familial abdominal aneurysms different?. J Vasc Surg 10 (1989) 39-43
14. Baird P.A., Sadovnick A.D., Yee I.M.L., Cole C.W., and Cole L. Sibling risks of abdominal aortic aneurysm. Lancet 346 (1995) 601-604
15. Fitzgerald P., Ramsbottom D., Burke P., Grace P., McAnena O., Croke D.T., et al. Abdominal aortic aneurysm in the Irish population: a familial screening study. Br J Surg 82 4 (1995) 483-486
16. Frydman G., Walker P.J., Summers K., West M., Xu D., Lightfoot T., et al. The value of screening in siblings of patients with abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 26 4 (2003) 396-400
17. Le Hello C., Koskas F., Cluzel P., Tazi Z., Gallos C., and Piette J.C. French women from multiplex abdominal aortic aneurysm families should be screened. Ann Surg 242 5 (2005) 739-744
18. Adamson J., Powell J.T., and Greenhalgh R.M. Selection for screening for familial aortic aneurysms. Br J Surg 79 9 (1992) 897-898
19. LaMorte W.W., Scott T.E., and Menzoian J.O. Racial differences in the incidence of femoral bypass and abdominal aortic aneurysmectomy in Massachusetts: relationship to cardiovascular risk factors. J Vasc Surg 21 (1995) 422-431
20. Salo J.A., Soisalon-Soininen S., Bondestam S., and Mattila P.S. Familial Occurrence of Abdominal Aortic Aneurysm. Ann Intern Med 130 (1999) 637-642
21. Tilson M.D., and Seashore M.R. Fifty families with abdominal aortic aneurysm in two or more first-order relatives. Am J Surg 147 4 (1984) 551-553
22. Powell J.T., and Greenhalgh R.M. Multifactorial inheritance of abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 1 1 (1987) 29-31
23. Majumder P.P., St Jean P.L., Ferrell R.E., Webster M.W., and Steed D.L. On the inheritance of abdominal aortic aneurysm. Am J Hum Genet 48 (1991) 164-170
24. Verloes A., Sakalihasan N., Koulischer L., and Limet R. Aneurysm of the abdominal aorta: familial and genetic aspects in three hundred and thirteen pedigrees. J Vasc Surg 21 (1995) 646-655
25. Kuivaniemi H., Shibamura H., Arthur C., Berguer R., Cole W., Juvonen T., et al. Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg 37 (2003) 340-345
26. van Vlijmen-van Keulen C.J., Pais G., and Rauwerds J.A. Familial abdominal aortic aneurysm: a systematic review of a genetic background. Eur J Vasc Endovasc Surg 24 (2002) 105-116
27. Jones G.T., Phillips V.L., Harris E.L., Rossaak J.L., and van Rij A.M. Functional matrix metalloproteinase-9 polymorphism (C-1562T) associated with abdominal aortic aneurysm. J Vasc Surg 38 (2003) 1363-1367
28. Yoon S., Tromp G., Vongpunsawad S., Ronkainen A., Juvonen T., and Kuivaniemi H. Genetic analysis of MMP3, MMP9 and PAI-1 in Finnish Patients with Abdominal Aortic or Intracranial Aneurysms. Biochem Biophys Res Commun 265 (1999) 563-568
29. Higashikata T., Yamagishi M., Saski H., Minatoya K., Ogino H., Ishibashi-Ueda H., et al. Application of real-time RT-PCR to quantifying gene expression of matrix metalloparoeinases and tissue inhibitors of metalloproteinases in human aortic aneurysm. Atherosclerosis 177 (2004) 353-360
30. Lamblin N., Bauters C., Hermant X., Lablanche J.-M., Helbecque N., and Amouyel P. Polymorphisms in the promoter regions of MMP-2, MMP-3, MMP-9 and MMP-12 genes as determinants of aneurysmal coronary artery disease. J Am Coll Cardiol 40 1 (2002) 43-48
31. Eriksson P., Jormsjo-Pettersson S., Brady A.R., Deguchi H., Hamsten A., and Powell J.T. Genotype-phemotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion. Br J Surg 92 11 (2005) 1372-1376
32. Longo G.M., Buda S.J., Fiotta N., Xiong W., Griener T., Shapiro S., et al. MMP-12 has a role in abdominal aortic aneurysms in mice. Surgery 137 4 (2005) 457-462
33. Satta J., Juvonen T., Haukipuro K., Juvonen M., and Kairaluoma M. Increased turnover of collagen in abdominal aortic aneurysms, demonstrated by measuring the concentration of the aminoterminal propeptide of type III procollagen in peripheral and aortal blood samples. J Vasc Surg 22 (1995) 155-160
34. Anderson DW, Edwards TK, Ricketts MH, Kuivavieme H, Tromp G, Stolle CA, et al. Multiple defects in type III collagen synthesis are associated with the pathogenesis of abdominal aortic aneurysms. Ann New York Acad Sci 217-227.
35. Tamarina N.A., McWilliam W.D., Shively V.P., and Pearce W.H. Expression of matrix metalloproteinases and their inhibitors in aneurysms and normal aorta. Surgery 122 2 (1997) 264-272
36. Wilson W.R.W., Schwalbe E.C., Jones J.L., Bell P.R.F., and Thompson M.M. Matrix metalloproteinase 8 (neutrophils collagenase) in the pathogenesis of abdominal aortic aneurysm. Br J Surg 92 (2005) 828-833
37. Tilson M.D., Reilly J.M., Brophy C.M., Webster E.L., and Barnett T.R. Expression and sequence of the gene for tissue inhibitor of metalloproteinases in patients with abdominal aortic aneurysms. J Vasc Surg 18 2 (1993) 266-270
38. Ogata T., Shibamura H., Tromp G., Sinha M., Goddard K., Sakalihasan N., et al. Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. J Vasc Surg 41 (2005) 1036-1042
39. Wang X., Tromp G., Cole C.W., Verloes A., Sakalihasan N., Yoon S., et al. Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms. Matrix Biol 18 2 (1999) 12-14
40. Hegab A.E., Sakamoto T., Uchida Y., Nomura A., Ishii Y., Morishima Y., et al. Promoter activity of human tissue inhibitor of metalloproteinase 2 gene wit novel single nucleotide polymorphisms. Respirology 10 1 (2005) 27-30
41. Rossaak J.I., van Rij A.M., Jones G.T., and Harris E.L. Association of the 4G/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms. J Vasc Surg 31 (2000) 1026-1032
42. Jones K., Powell J., Brown L., Greenhalgh R., Jormsjo S., and Eriksson P. The influence of 4G/5G polymorphism in the PLasminogen Activator Inhibitor-1 gene promoter on incidence, growth and operative risk of abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 23 (2002) 421-425
43. Bown M.J., Burton P.R., Horsburgh T., Nicholson M.L., Bell P.R.F., and Sayers R.D. The role of cytokine gene polymorphisms in the pathogenesis of abdominal aortic aneurysms: a case-control study. J Vasc Surg 37 (2003) 999-1005
44. Marculescu R., Sodeck G., Domanovits H., Hobusch G., Exner M., Heinzl H., et al. Interleukin-1 gene cluster variants and abdominal aortic aneurysms. Thromb Haemost 93 3 (2005) 646-650
45. Jones K.G., Brull D.J., Brown L.C., Sian M., Greenhalgh R.M., Humphries S.E., et al. Interleukin-6 (IL-6) and the prognosis of abdominal aortic aneurysms. Circulation 103 (2001) 2260-2265
46. Daugherty A., Manning M.W., and Cassis L.A. Angiotensin II promotes atherosclerotic lesions and aneurysms in apolipoprotein E-deficient mice. J Clin Invest 105 11 (2000) 1605-1612
47. Nishimoto M., Takai S., Fukumoto H., Tsunemi K., Yuda A., Sawada Y., et al. Increased local angiotensin II formation in aneurysmal aorta. Life Sci 71 18 (2002) 2195-2205
48. Fatini C., Pratesi G., Sofi F., Gensini F., Sticchi E., Lari B., et al. ACE DD genotype: a predisposing factor for abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 29 (2005) 227-232
49. Pola R., Gaetani E., Santoliquido A., Geradino L., Cattani P., Serricchio M., et al. Abdominal aortic aneurysm in normotensive patients: association with angiotensin-converting enzyme gene polymorphism. Eur J Vasc Endovasc Surg 21 (2001) 445-449
50. Cassis L.A., Helton M.J., Howatt D.A., King V.L., and Daugherty A. Aldosterone does not mediate angiotensin II-induced atherosclerosis and abdominal aortic aneurysms. Br J Pharmacol 144 3 (2005) 443-448
51. Brunelli T., Prisco D., Fedi S., Rogolino A., Farsi A., Marcucci R., et al. High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm. J Vasc Surg 32 3 (2000) 531-536
52. Strauss E., Waliszewski K., Gabriel M., Zapalski S., and Pawlak A.L. Increased riak of the abdominal aortic aneurysm in carriers of the MTHFR 677T allele. J Appl Genet 44 1 (2003) 85-93
53. Jones G.T., Harris E.L., Phillips L.V., and van Rij A.M. The methylenetetrahydrofolate reductase C677T polymorphism does not associate with susceptibility to abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 30 2 (2005) 137-142
54. Shan L., Nishimura Y., Kotani Y., and Yokoyama M. Platelet-activating factor increases the expression of metalloproteinase-9 in human bronchial epithelial cells. Eur J Pharmacol 374 1 (1999) 147-156
55. Sugano T., Nasu K., Narahara H., Kawano Y., Nishida Y., and Miyakawa I. Platelet-activating factor induces an imbalance beteen matrix metalloproteinse-1 and tissue inhibitor of metalloProteinases-1 expression in human uterine cervical fibroblasts. Biol Reprod 62 3 (2000) 540-546
56. Miwa M., Miyake T., Yamanaka T., Sugatani J., Suzuki Y., Sakata S., et al. Characterization of serum plateley-activating factor (PAF) acetlyhydrolase. Correlation between deficiency of serum PAF acetylhydrolase and respiratory symptoms in asthmatic children. J Clin Invest 82 6 (1988) 1983-1991
57. Stafforini D.M., Satoh K., Atkinson D.L., Tjoelker L.W., Eberhardt C., Yoshida H., et al. Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase. J Clin Invest 97 12 (1996) 2784-2791
58. 994→T Missinse Mutation I the plasma platelet-activating factor acetylhydrolase gene with risk of abdominal aortic aneurysm in Japanese. Ann Surg 235 2 (2002) 297-302
59. Kotani K., Shimomura T., Murakami F., Ikawa S., Kanaoka Y., Oghi S., et al. Allele frequency of human endothelial nitric oxide synthase gene polymorphism in abdominal aortic aneurysm. Intern Med 39 7 (2000) 537-539
60. Fatinie C., Sofi F., STicchi E., Bolli P., Sestini I., Falciani M., et al. eNOS G894T polymorphism as a mild predisposing factor for abdominal aortic aneurysm. J Vasc Surg 42 3 (2005) 415-419
61. Ghodke Y., Joshi K., Chopra A., and Patwardhan B. HLA and disease. Eur J Epidemiol 20 6 (2005) 475-488
62. Rasmussen TE, Hallett JW, Schukte S, Harmsen S, O'Fallon WM, Weyand CM. Genetic similarity in inflammatory and degenerative abdominal aortic aneurysms: a study of human leukocyte antigen class II disease risk genes.
63. Monux G., Serrano F.J., Vigil P., and De la Concha E.G. Role of HLA-DR in the pathogenesis of abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 26 (2003) 211-214
64. Hirose H., Takagi M., Miyagawa N., Hashiyada H., Noguchi M., Tada S., et al. Genetic risk factor for abdominal aortic aneurysm: HLA-DR2(15), a Japanese study. J Vasc Surg 27 3 (1998) 500-503
65. Sugimoto T., Sada M., Miyamoto T., and Yao H. Genetic analysis on HLA loci in Japanese patients with abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 26 (2003) 215-218
66. Oppermann M. Chemokine receptor CCR5: insights into structure, function and regulation. Cell Signal 16 (2004) 1201-1210
67. Munerato P., Azevedo M.L., Sucipira M.C.A., Pardini R., Pinto G.H.N., Catroxo M., et al. Frequency of polymorphisms of genes coding for HIV-1 co-receptors CCR5 and CCR2 in a Brazilian population. Braz J Infect Dis 7 4 (2003) 236-240
68. Mueller A., and Strange P.G. The chemokine receptor, CCR5. Int J Biochem Cell Biol 36 (2004) 35-38
69. Ghilardi G., Biondi M.L., Battaglioli L., Zambon A., Guagnellini E., and Scorza R. Genetic risk factor characterizes abdominal aortic aneurysm from arterial occlusive disease in human beings: CCR5 Δ32 deletion. J Vasc Surg 40 5 (2004) 995-1000