The role of type III collagen in the development of familial abdominal aortic aneurysms.
OBJECTIVE
to evaluate the prevalence of familiar abdominal aortic aneurysm (AAA) and the role of type III collagen deficiency.


METHODS
fifty-six consecutive patients coming for aneurysm repair were asked if one or more first-degree relatives had an AAA. During operation, a skin biopsy was taken from the patients for protein analysis to measure the type III collagen production in cultured fibroblasts.


RESULTS
a positive family history was found in 28.6% of the AAA patients. Six (10.7%) of the AAA patients had a type III collagen deficiency (mean 4.3% (S.D.+/-0.5)). In this group three men, mean age 65.3 years (S.D.+/-5.0), had a positive family history and a type III collagen deficiency. Segregation analysis with an intragenic marker in the type III collagen gene in a single family was in favour of linkage with the gene for type III procollagen (COL3A1) locus.


CONCLUSIONS
the high prevalence of familial AAA suggests a genetic aetiology. A small group of patients have a type III collagen deficiency. Linkage with the COL3A1 gene could not be proven or excluded in the families studied.
van Keulen
C J
CJ
Institute for Cardiovascular Research, Vrije Universiteit, Amsterdam, The Netherlands.
van de Akker
E
E
Pals
G
G
Rauwerda
J A
JA
D000368:Aged; D017544:Aortic Aneurysm, Abdominal / Q000235:genetics*; D002478:Cells, Cultured; D003094:Collagen / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D011506:Proteins / Q000032:analysis
D011506:Proteins; D003094:Collagen