[en] OBJECTIVE: This study investigated a large number of families in which at least two individuals were diagnosed with abdominal aortic aneurysms to identify the relationship of the affected relatives to the proband. Subjects and Methods: Families for the study were recruited through various vascular surgery centers in the United States, Finland, Belgium, Canada, the Netherlands, Sweden, and the United Kingdom and through our patient recruitment website (www.genetics.wayne.edu/ags). RESULTS: We identified 233 families with at least two individuals diagnosed with abdominal aortic aneurysms. The families originated from nine different nationalities, but all were white. There were 653 aneurysm patients in these families, with an average of 2.8 cases per family. Most of the families were small, with only two affected individuals. There were, however, six families with six, three with seven, and one with eight affected individuals. Most of the probands (82%) and the affected relatives (77%) were male, and the most common relationship to the proband was brother. Most of the families (72%) appeared to show autosomal recessive inheritance pattern, whereas in 58 families (25%), abdominal aortic aneurysms were inherited in autosomal dominant manner, and in eight families, the familial aggregation could be explained by autosomal dominant inheritance with incomplete penetrance. In the 66 families where abdominal aortic aneurysms were inherited in a dominant manner, 141 transmissions of the disease from one generation to another were identified, and the male-to-male, male-to-female, female-to-male, and female-to-female transmissions occurred in 46%, 11%, 32%, and 11%, respectively. CONCLUSION: Our study supports previous studies about familial aggregation of abdominal aortic aneurysms and suggests that first-degree family members, male relatives, in particular, are at increased risk. No single inheritance mode could explain the occurrence of abdominal aortic aneurysms in the 233 families studied here, suggesting that abdominal aortic aneursyms are a multifactorial disorder with multiple genetic and environmental risk factors.
Disciplines :
Surgery
Author, co-author :
Kuivaniemi, Helena
Shibamura, Hidenori
Arthur, Claudette
Berguer, Ramon
Cole, C William
Juvonen, Tatu
Kline, Ronald A
Limet, Raymond ; Centre Hospitalier Universitaire de Liège - CHU > Chirurgie cardio-vasculaire
Mackean, Gerry
Norrgard, Orjan
Pals, Gerard
Powell, Janet T
Rainio, Pekka
SakalihasanN, Natzi ; Centre Hospitalier Universitaire de Liège - CHU > Chirurgie cardio-vasculaire
van Vlijmen-van Keulen, Clarissa
VERLOES, Alain ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.
Bibliography
Ernst CB. Abdominal aortic aneurysm. N Engl J Med 1993;328:1167-72.
Kuivaniemi H, Tromp G. Search for the aneurysm susceptibility gene(s). In: Keen R, Dobrin P, editors. Development of aneurysms. Georgetown [TX]: Landes Bioscience; 2000. p. 219-33.
Majumder PP, St Jean PL, Ferrell RE, Webster MW, Steed DL. On the inheritance of abdominal aortic aneurysm. Am J Hum Genet 1991;48:164-70.
Verloes A, Sakalihasan N, Koulischer L, Limet R. Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees. J Vasc Surg 1995;21:646-55.
Tilson MD, Seashore MR. Human genetics of the abdominal aortic aneurysm. Surg Gynecol Obstet 1984;158:129-32.
Tilson MD, Seashore MR. Fifty families with abdominal aortic aneurysms in two or more first-order relatives. Am J Surg 1984;147:551-3.
Kuivaniemi H. Candidate genes for abdominal aortic aneurysms. In: Liotta D, del Rio M, Cooley DA, et al, editors. Diseases of the aorta. Buenos Aires, Argentina: Domingo Liotta Foundation Medical; 2001. p. 79-86.
Lederle FA, Johnson GR, Wilson SE, Chute EP, Littooy FN, Bandyk D, et al. Prevalence and associations of abdominal aortic aneurysm detected through screening. Aneurysm Detection and Management (ADAM) Veterans Affairs Cooperative Study Group. Ann Intern Med 1997;126:441-9.
Lederle FA, Johnson GR, Wilson SE, Chute EP, Hye RJ, Makaroun MS, et al. The aneurysm detection and management study screening program: validation cohort and final results. Aneurysm Detection and Management Veterans Affairs Cooperative Study Investigators. Arch Intern Med 2000;160:1425-30.
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 1998;27:500-3.
Rasmussen TE, Hallett JW Jr, Schulte S, Harmsen WS, 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. J Vasc Surg 2001;34:84-9.
Wang X, Tromp G, Cole CW, Verloes A, Sakalihasan N, Yoon S, et al. Analysis of coding sequences for tissue inhibitor of metalloproteinases I (TIMP1) and 2 (TIMP2) in patients with aneurysms. Matrix Biol 1999;18:121-4.
Anderson DW, Edwards TK, Ricketts MH, Kuivaniemi H, Tromp G, Stolle CA, et al. Multiple defects in type III collagen synthesis are associated with the pathogenesis of abdominal aortic aneurysms. Ann N Y Acad Sci 1996;800:216-28.
Tromp G, Wu Y, Prockop DJ, Madhatheri SL, Kleinert C, Earley JJ, et al. Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. J Clin Invest 1993;91:2539-45.
Pyo R, Lee JK, Shipley JM, Curci JA, Mao D, Ziporin SJ, et al. Targeted gene disruption of matrix metalloproteinase-9 (gelatinase B) suppresses development of experimental abdominal aortic aneurysms. J Clin Invest 2000;105:1641-9.
Wang YX, Martin-McNulty B, Freay AD, Sukovich DA, Halks-Miller M, Li WW, et al. Angiotensin II increases urokinase-type plasminogen activator expression and induces aneurysm in the abdominal aorta of apolipoprotein E-deficient mice. Am J Pathol 2001;159:1455-64.
Yoon S, Tromp G, Vongpunsawad S, Ronkainen A, Juvonen T, Kuivaniemi H. Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms. Biochem Biophys Res Commun 1999;265:563-8.
Rossaak JI, Van Rij AM, Jones GT, Harris EL. Association of the 4G/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms. J Vasc Surg 2000;31:1026-32.
Kotani K, Shimomura T, Murakami F, Ikawa S, Kanaoka Y, Ohgi S, et al. Allele frequency of human endothelial nitric oxide synthase gene polymorphism in abdominal aortic aneurysm. Intern Med 2000;39:537-9.
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 Vase Endovasc Surg 2001;21:445-9.
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 Vase Endovasc Surg 1999;18:158-61.
Jones KG, Brull DJ, Brown LC, Sian M, Greenhalgh RM, Humphries SE, et al. Interleukin-6 (IL-6) and the prognosis of abdominal aortic aneurysms. Circulation 2001;103:2260-5.
Salkowski A, Tromp G, Greb A, Womble D, Kuivaniemi H. Web-site-based recruitment for research studies on abdominal aortic and intracranial aneurysms. Genet Test 2001;5:307-10.
Johnston KW, Rutherford RB, Tilson MD, Shah DM, Hollier L, Stanley JC. Suggested standards for reporting on arterial aneurysms. Subcommittee on Reporting Standards for Arterial Aneurysms, Ad Hoc Committee on Reporting Standards, Society for Vascular Surgery and North American Chapter, International Society for Cardiovascular Surgery. J Vasc Surg 1991;13:452-8.
Baird PA, Sadovnick AD, Yee IM, Cole CW, Cole L. Sibling risks of abdominal aortic aneurysm. Lancet 1995;346:601-4.
Lawrence PF, Wallis C, Dobrin PB, Bhirangi K, Gugliuzza N, Galt S, et al. Peripheral aneurysms and arteriomegaly: is there a familial pattern? J Vasc Surg 1998;28:599-605.
Lederle FA, Johnson GR, Wilson SE. Abdominal aortic aneurysm in women. J Vasc Surg 2001;34:122-6.
LaMorte WW, Scott TE, Menzoian JO. Racial differences in the incidence of femoral bypass and abdominal aortic aneurysmectomy in Massachusetts: relationship to cardiovascular risk factors. J Vasc Surg 1995;21:422-31.
Katz DJ, Stanley JC, Zelenock GB. Operative mortality rates for intact and ruptured abdominal aortic aneurysms in Michigan: an eleven-year statewide experience. J Vasc Surg 1994;19:804-17.
Katz DJ, Stanley JC, Zelenock GB. Gender differences in abdominal aortic aneurysm prevalence, treatment, and outcome. J Vasc Surg 1997;25:561-8.
Darling RC III, Brewster DC, Darling RC, LaMuraglia GM, Moncure AC, Cambria RP, et al. Are familial abdominal aortic aneurysms different? J Vasc Surg 1989;10:39-43
This website uses cookies to improve user experience. Read more
Save & Close
Accept all
Decline all
Show detailsHide details
Cookie declaration
About cookies
Strictly necessary
Performance
Strictly necessary cookies allow core website functionality such as user login and account management. The website cannot be used properly without strictly necessary cookies.
This cookie is used by Cookie-Script.com service to remember visitor cookie consent preferences. It is necessary for Cookie-Script.com cookie banner to work properly.
Performance cookies are used to see how visitors use the website, eg. analytics cookies. Those cookies cannot be used to directly identify a certain visitor.
Used to store the attribution information, the referrer initially used to visit the website
Cookies are small text files that are placed on your computer by websites that you visit. Websites use cookies to help users navigate efficiently and perform certain functions. Cookies that are required for the website to operate properly are allowed to be set without your permission. All other cookies need to be approved before they can be set in the browser.
You can change your consent to cookie usage at any time on our Privacy Policy page.