title: The role of type III collagen in the development of familial abdominal aortic aneurysms.
abstract: 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.
authors.affiliation: Institute for Cardiovascular Research, Vrije Universiteit, Amsterdam, The Netherlands.
authors.forename: C J
authors.initials: CJ
authors.lastname: van Keulen
authors.forename: E
authors.initials: E
authors.lastname: van de Akker
authors.forename: G
authors.initials: G
authors.lastname: Pals
authors.forename: J A
authors.initials: JA
authors.lastname: Rauwerda
mesh_terms: 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
chemical_list: D011506:Proteins; D003094:Collagen