Adult; Age Factors; Aged; Aged, 80 and over; Alleles; Aortic Aneurysm, Abdominal/epidemiology/genetics/mortality; Aortic Rupture/epidemiology/genetics; Belgium/epidemiology; Female; Genes, Dominant/genetics; Humans; Male; Middle Aged; Nuclear Family; Pedigree; Probability; Risk Factors; Sex Factors; Statistics as Topic; Survival Rate
Abstract :
[en] PURPOSE: Familial clustering of abdominal aortic aneurysm was first noticed in 1977. METHODS: Through questionnaire and phone inquiry, familial data on 324 probands with abdominal aortic aneurysms allowed the establishment of 313 multigenerational pedigrees including 39 with multiple affected patients. RESULTS: There were 276 sporadic cases (264 men, 12 women); 81 cases belonged to multiplex pedigrees (76 men; 5 women). We compared familial and sporadic male cases; the ages at diagnosis were 64.1 +/- 7.9 years and 66.0 +/- 7.3 years (p < 0.05), respectively, the ages at rupture were 65.4 +/- 6.6 years and 75.2 +/- 8.6 years (p < 0.001), and the rupture rate was 32.4% and 8.7% (p < 0.001). Survival curves were computed. Relative risk for male siblings of a male patient was 18. We performed a segregation analysis with the mixed model, the most likely explanation for occurrence of abdominal aortic aneurysm in our families was a single gene effect showing dominant inheritance. The frequency of the morbid allele was 1:250, and its age-related penetrance was not higher than 0.4. CONCLUSION: This analysis indicates the preeminence of genetic factors on multifactorial/environmental effects of the pathogenesis of abdominal aortic aneurysm.
Disciplines :
Surgery
Author, co-author :
VERLOES, Alain ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
SakalihasanN, Natzi ; Centre Hospitalier Universitaire de Liège - CHU > Chirurgie cardio-vasculaire
Koulischer, Lucien ; Université de Liège - ULiège > Relations académiques et scientifiques (Médecine)
Limet, Raymond ; Centre Hospitalier Universitaire de Liège - CHU > Chirurgie cardio-vasculaire
Language :
English
Title :
Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees.
Publication date :
1995
Journal title :
Journal of Vascular Surgery
ISSN :
0741-5214
eISSN :
1097-6809
Publisher :
Mosby Year Book, St Louis, United States - Missouri
Bickerstaff, Hollier, Van Peenen, Melton, Pairolero, Cherry (1984) Abdominal aortic aneurysm the changing natural history. Journal of Vascular Surgery 1:6-12.
Melton, Bickerstaff, Hollier (1984) Changing incidence of abdominal aortic aneurysms: a population-based study. Am J Epidemiol 120:379-386.
Everitt Statistical methods for medical investigation, Oxford University Press, New York; 1988.
Majumder, St Jean, Ferrell, Webster, Steed (1991) On the inheritance of abdominal aortic aneurysm. Am J Hum Genet 48:164-170.
Lalouel, Rao, Morton, Elston (1983) A unified model for complex segregation analysis. Am J Hum Genet 35:816-826.
Morton, Lalouel (1983) Segregation analysis of familial data. Methods in genetic epidemiology , NE Morton, DC Rao, JM Lalouel, Karger, Basel; 62-102.
Elston, Stewart (1974) A general model for the genetic analysis of pedigree data. Hum Hered 21:523-542.
Fowkes, McIntyre, Ruckey (1983) Increasing incidence of aortic aneurysms in England and Wales. BMJ 298:33-35.
Powel, Greenhalgh (1987) Multifactorial inheritance of abdominal aortic aneurysm. European Journal of Vascular Surgery 1:29-31.
Norrgard, Rais, Ängquist (1984) Familial occurrence of abdominal aortic aneurysms. Surgery 95:650-656.
Cole, Barber, Bouchard, Roberge, Waddell, Wellington (1989) Abdominal aortic aneurysm: consequences of a positive family history. Can J Surg 32:117-120.
Webster, St Jean, Steed, Ferrell, Majumder (1991) Abdominal aortic aneurysm: result of a family study. J VASC SURG 13:366-372.
Tilson, Seashore (1984) Fifty families with abdominal aortic aneurysm in two or more first-order relatives. Am J Surg 147:551-553.
Webster, Ferrell, St Jean, Majumder, Fogel, Steed (1991) Ultrasound screening of first-degree relatives of patients with an abdominal aortic aneurysm. J VASC SURG 13:9-14.
Bengtsson, Norrgard, Ängquist, Ekberg, Öberg, Bergqvist (1989) Ultrasonographic screening of the abdominal aorta among siblings of patients with abdominal aortic aneurysms. Br J Surg 76:589-591.
Falconer (1965) Inheritance of liability to certain diseases estimated from the incidence among relatives. Annals of Human Genetics 29:51-76.
Kontusaari, Tromp, Kulvaniemi, Ladda, Prockop (1990) Inheritance of a RNA splicing mutation(G+1/VS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. Am J Hum Genet 47:112-120.
Menashi, Campa, Greenhalgh, Powel (1987) Collagen in abdominal aortic aneurysm: typing, content, and degradation. J VASC SURG 6:578-582.
Kontusaari, Tromp, Kulvaniemi, Romanic, Prockop (1990) A mutation in the gene for type III procollagen (col 3A1) in a family with aortic aneurysms. J Clin Invest 86:1465-1473.
Limet, Sakalihasan, Albert (1991) Determination of the expansion rate and incidence of rupture of abdominal aortic aneurysms. J VASC SURG 14:540-548.