Candidate Gene Association Studies in Abdominal Aortic Aneurysm Disease: A Review and Meta-Analysis

European Journal of Vascular and Endovascular Surgery

Volumn 35, Issue 1, 2008, Pages 19-30

  Thompson, A R ^a,b   Drenos, F ^a   Hafez, H ^b   Humphries, S E ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b ST RICHARD S HOSPITAL   (United Kingdom)

Author keywords

Abdominal aortic aneurysm; Candidate gene analysis; Single neucleotide polymorphism

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); DIPEPTIDYL CARBOXYPEPTIDASE; ENDOTHELIAL NITRIC OXIDE SYNTHASE; GELATINASE B; INTERLEUKIN 1BETA; TISSUE INHIBITOR OF METALLOPROTEINASE 1;

ABDOMINAL AORTA ANEURYSM; CONFIDENCE INTERVAL; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; GENE DELETION; GENE INSERTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW;

AORTIC ANEURYSM, ABDOMINAL; DISEASE PROGRESSION; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERLEUKIN-1BETA; MATRIX METALLOPROTEINASE 9; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); NITRIC OXIDE SYNTHASE TYPE III; PEPTIDYL-DIPEPTIDASE A; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK ASSESSMENT; RISK FACTORS; TISSUE INHIBITOR OF METALLOPROTEINASE-1;

EID: 36849084039     PISSN: 10785884     EISSN: 15322165     Source Type: Journal    
DOI: 10.1016/j.ejvs.2007.07.022     Document Type: Review

References (63)

1. Sandford R.M., Bown M.J., London N.J., and Sayers R.D. The genetic basis of abdominal aortic aneurysms: a review. Eur J Vasc Endovasc Surg 33 4 (2007) 381-390
2. Noble Jr. J.H. Meta-analysis: methods, strengths, weaknesses, and political uses. J Lab Clin Med 147 1 (2006) 7-20
3. Robinson P.N., Arteaga-Solis E., Baldock C., Collod-Beroud G., Booms P., De Paepe A., et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet 43 10 (2006) 769-787
4. Habashi J.P., Judge D.P., Holm T.M., Cohn R.D., Loeys B.L., Cooper T.K., et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312 5770 (2006) 117-121
5. Wang J.G., and Staessen J.A. Genetic polymorphisms in the renin-angiotensin system: relevance for susceptibility to cardiovascular disease. Eur J Pharmacol 410 2-3 (2000) 289-302
6. Rigat B., Hubert C., Alhenc-Gelas F., Cambien F., Corvol P., and Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 86 4 (1990) 1343-1346
7. Tiret L., Rigat B., Visvikis S., Breda C., Corvol P., Cambien F., et al. Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels. Am J Hum Genet 51 1 (1992) 197-205
8. Danser A.H., Schalekamp M.A., Bax W.A., van den Brink A.M., Saxena P.R., Riegger G.A., et al. Angiotensin-converting enzyme in the human heart. Effect of the deletion/insertion polymorphism. Circulation 92 6 (1995) 1387-1388
9. O'donnell C.J., Lindpaintner K., Larson M.G., Rao V.S., Ordovas J.M., Schaefer E.J., et al. Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. Circulation 97 18 (1998) 1766-1772
10. Higaki J., Baba S., Katsuya T., Sato N., Ishikawa K., Mannami T., et al. Deletion allele of angiotensin-converting enzyme gene increases risk of essential hypertension in Japanese men: the Suita Study. Circulation 101 17 (2000) 2060-2065
11. Keavney B., McKenzie C., Parish S., Palmer A., Clark S., Youngman L., et al. Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators. Lancet 355 9202 (2000) 434-442
12. Pola R., Gaetani E., Santoliquido A., Gerardino 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 5 (2001) 445-449
13. Hamano K., Ohishi M., Ueda M., Fujioka K., Katoh T., Zempo N., et al. Deletion polymorphism in the gene for angiotensin-converting enzyme is not a risk factor predisposing to abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 18 2 (1999) 158-161
14. 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 3 (2005) 227-232
15. Massart F., Marini F., Menegato A., Del Monte F., Nuti M., Butitta F., et al. Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm. J Steroid Biochem Mol Biol 92 5 (2004) 413-418
16. Boushey C.J., Beresford S.A., Omenn G.S., and Motulsky A.G. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA 274 13 (1995) 1049-1057
17. Bescond A., Augier T., Chareyre C., Garcon D., Hornebeck W., and Charpiot P. Influence of homocysteine on matrix metalloproteinase-2: activation and activity. Biochem Biophys Res Commun 263 2 (1999) 498-503
18. Sharp L., and Little J. Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review. Am J Epidemiol 159 5 (2004) 423-443
19. Thompson R.W., Geraghty P.J., and Lee J.K. Abdominal aortic aneurysms: basic mechanisms and clinical implications. Curr Probl Surg 39 2 (2002) 110-230
20. 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
21. Strauss E., Waliszewski K., Gabriel M., Zapalski S., and Pawlak A.L. Increased risk of the abdominal aortic aneurysm in carriers of the MTHFR 677T allele. J Appl Genet 44 1 (2003) 85-93
22. Sofi F., Marcucci R., Giusti B., Pratesi G., Lari B., Sestini I., et al. High levels of homocysteine, lipoprotein (a) and plasminogen activator inhibitor-1 are present in patients with abdominal aortic aneurysm. Thromb Haemost 94 5 (2005) 1094-1098
23. Ferrara F., Novo S., Grimaudo S., Raimondi F., Meli F., Amato C., et al. Methylenetetrahydrofolate reductase mutation in subjects with abdominal aortic aneurysm subdivided for age. Clin Hemorheol Microcirc 34 3 (2006) 421-426
24. 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
25. Garg U.C., and Hassid A. Nitric oxide-generating vasodilators inhibit mitogenesis and proliferation of BALB/C 3T3 fibroblasts by a cyclic GMP-independent mechanism. Biochem Biophys Res Commun 171 1 (1990) 474-479
26. Veldman B.A., Spiering W., Doevendans P.A., Vervoort G., Kroon A.A., de Leeuw P.W., et al. The Glu298Asp polymorphism of the NOS 3 gene as a determinant of the baseline production of nitric oxide. J Hypertens 20 10 (2002) 2023-2027
27. Fatini 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
28. Smith M.W., Dean M., Carrington M., Winkler C., Huttley G.A., Lomb D.A., et al. Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression. Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SFCC), ALIVE Study. Science 277 5328 (1997) 959-965
29. 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 Delta 32 deletion. J Vasc Surg 40 5 (2004) 995-1000
30. Thompson R.W. Reflections on the pathogenesis of abdominal aortic aneurysms. Cardiovasc Surg 10 4 (2002) 389-394
31. Galis Z.S., and Khatri J.J. Matrix metalloproteinases in vascular remodeling and atherogenesis: the good, the bad, and the ugly. Circ Res 90 3 (2002) 251-262
32. Keeling W.B., Armstrong P.A., Stone P.A., Bandyk D.F., and Shames M.L. An overview of matrix metalloproteinases in the pathogenesis and treatment of abdominal aortic aneurysms. Vasc Endovascular Surg 39 6 (2005) 457-464
33. Zhang B., Ye S., Herrmann S.M., Eriksson P., de Maat M., Evans A., et al. Functional polymorphism in the regulatory region of gelatinase B gene in relation to severity of coronary atherosclerosis. Circulation 99 14 (1999) 1788-1794
34. Jones G.T., Phillips V.L., Harris E.L., Rossaak J.I., and van Rij A.M. Functional matrix metalloproteinase-9 polymorphism (C-1562T) associated with abdominal aortic aneurysm. J Vasc Surg 38 6 (2003) 1363-1367
35. Ogata T., Shibamura H., Tromp G., Sinha M., Goddard K.A., Sakalihasan N., et al. Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. J Vasc Surg 41 6 (2005) 1036-1042
36. Unno N., Nakamura T., Mitsuoka H., Uchiyama T., Yamamoto N., Saito T., et al. Association of a G994 →T missense mutation in the plasma platelet-activating factor acetylhydrolase gene with risk of abdominal aortic aneurysm in Japanese. Ann Surg 235 2 (2002) 297-302
37. Unno N., Nakamura T., Kaneko H., Uchiyama T., Yamamoto N., Sugatani J., et al. Plasma platelet-activating factor acetylhydrolase deficiency is associated with atherosclerotic occlusive disease in japan. J Vasc Surg 32 2 (2000) 263-267
38. Yamada Y., Ichihara S., Fujimura T., and Yokota M. Identification of the G994→ T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men. Metabolism 47 2 (1998) 177-181
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) 121-124
40. Bown M.J., Burton P.R., Horsburgh T., Nicholson M.L., Bell P.R., 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 5 (2003) 999-1005
41. Eskdale J., Gallagher G., Verweij C.L., Keijsers V., Westendorp R.G., and Huizinga T.W. Interleukin 10 secretion in relation to human IL-10 locus haplotypes. Proc Natl Acad Sci USA 95 16 (1998) 9465-9470
42. Otterbein L.E., Bach F.H., Alam J., Soares M., Tao L.H., Wysk M., et al. Carbon monoxide has anti-inflammatory effects involving the mitogen-activated protein kinase pathway. Nat Med 6 4 (2000) 422-428
43. Schillinger M., Exner M., Mlekusch W., Domanovits H., Huber K., Mannhalter C., et al. Heme oxygenase-1 gene promoter polymorphism is associated with abdominal aortic aneurysm. Thromb Res 106 2 (2002) 131-136
44. The UK Small Aneurysm Trial Participants Mortality results for randomised controlled trial of early elective surgery or ultrasonographic surveillance for small abdominal aortic aneurysms. Lancet 352 9141 (1998) 1649-1655
45. 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 the incidence, growth and operative risk of abdominal aortic aneurysm. Eur J Vasc Endovasc Surg 23 5 (2002) 421-425
46. Eriksson P., Jormsjo-Pettersson S., Brady A.R., Deguchi H., Hamsten A., and Powell J.T. Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion. Br J Surg 92 11 (2005) 1372-1376
47. Gerdes L.U., Lindholt J.S., Vammen S., Henneberg E.W., and Fasting H. Apolipoprotein E genotype is associated with differential expansion rates of small abdominal aortic aneurysms. Br J Surg 87 6 (2000) 760-765
48. Yeung J.M., Heeley M., Gray S., Lingam M.K., Manning G., Nash J.R., et al. Does the angiotensin-converting enzyme (ACE) gene polymorphism affect rate of abdominal aortic aneurysm expansion?. Eur J Vasc Endovasc Surg 24 1 (2002) 69-71
49. Choke E., Cockerill G., Wilson W.R., Sayed S., Dawson J., Loftus I., et al. A review of biological factors implicated in abdominal aortic aneurysm rupture. Eur J Vasc Endovasc Surg 30 3 (2005) 227-244
50. Shibamura H., Olson J.M., Vlijmen-Van Keulen C., Buxbaum S.G., Dudek D.M., Tromp G., 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 17 (2004) 2103-2108
51. Van Vlijmen-Van Keulen C.J., Rauwerda J.A., and 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 30 1 (2005) 29-35
52. Humphries S.E. Genetic strategies for common complex disorders: ischaemic heart disease as an example. In: Bishop T., and Sham P. (Eds). Analysis of Multifactorial Disease (2000), BIOS Scientific Publishers Ltd, Oxford 309-332
53. Ashton H.A., Buxton M.J., Day N.E., Kim L.G., Marteau T.M., Scott R.A., et al. The Multicentre Aneurysm Screening Study (MASS) into the effect of abdominal aortic aneurysm screening on mortality in men: a randomised controlled trial. Lancet 360 9345 (2002) 1531-1539
54. Marian A.J. On genetics, inflammation, and abdominal aortic aneurysm: can single nucleotide polymorphisms predict the outcome?. Circulation 103 18 (2001) 2222-2224
55. Casas J.P., Cooper J., Miller G.J., Hingorani A.D., and Humphries S.E. Investigating the genetic determinants of cardiovascular disease using candidate genes and meta-analysis of association studies. Ann Hum Genet 70 Pt 2 (2006) 145-169
56. Weedon M.N., Schwarz P.E., Horikawa Y., Iwasaki N., Illig T., Holle R., et al. Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet 73 5 (2003) 1208-1212
57. Casas J.P., Bautista L.E., Humphries S.E., and Hingorani A.D. Endothelial nitric oxide synthase genotype and ischemic heart disease: meta-analysis of 26 studies involving 23028 subjects. Circulation 109 11 (2004) 1359-1365
58. Drenos F., Whittaker J.C., and Humphries S.E. The use of Meta-Analysis Risk Estimates for Candidate Genes in Combination to Predict Coronary Heart Disease Risk. Ann Hum Genet (2007)
59. Sagnella G.A., Rothwell M.J., Onipinla A.K., Wicks P.D., Cook D.G., and Cappuccio F.P. A population study of ethnic variations in the angiotensin-converting enzyme I/D polymorphism: relationships with gender, hypertension and impaired glucose metabolism. J Hypertens 17 5 (1999) 657-664
60. Samani N.J., Thompson J.R., O'Toole L., Channer K., and Woods K.L. A meta-analysis of the association of the deletion allele of the angiotensin-converting enzyme gene with myocardial infarction. Circulation 94 4 (1996) 708-712
61. Vardulaki K.A., Walker N.M., Day N.E., Duffy S.W., Ashton H.A., and Scott 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
62. Wilmink A.B., Vardulaki K.A., Hubbard C.S., Day N.E., Ashton H.A., Scott A.P., et al. Are antihypertensive drugs associated with abdominal aortic aneurysms?. J Vasc Surg 36 4 (2002) 751-757
63. Hackam D.G., Thiruchelvam D., and Redelmeier D.A. Angiotensin-converting enzyme inhibitors and aortic rupture: a population-based case-control study. Lancet 368 9536 (2006) 659-665