Reference : Genome scan for familial abdominal aortic aneurysm using sex and family history as co...
Scientific journals : Article
Human health sciences : Surgery
http://hdl.handle.net/2268/116569
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13.
English
Shibamura, Hidenori [> > > >]
Olson, Jane M [> > > >]
van Vlijmen-Van Keulen, Clarissa [> > > >]
Buxbaum, Sarah G [> > > >]
Dudek, Doreen M [> > > >]
Tromp, Gerard [> > > >]
Ogata, Toru [> > > >]
Skunca, Magdalena [> > > >]
SakalihasanN, Natzi mailto [Centre Hospitalier Universitaire de Liège - CHU > > Chirurgie cardio-vasculaire]
Pals, Gerard [> > > >]
Limet, Raymond mailto [> > > >]
MacKean, Gerald L [> > > >]
Defawe, Olivier [> > > >]
VERLOES, Alain mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
Arthur, Claudette [> > > >]
Lossing, Alan G [> > > >]
Burnett, Marjorie [> > > >]
Sueda, Taijiro [> > > >]
Kuivaniemi, Helena [> > > >]
2004
Circulation
Lippincott Williams & Wilkins
109
17
2103-8
Yes (verified by ORBi)
International
0009-7322
1524-4539
Hagerstown
MD
[en] Adult ; Aged ; Aortic Aneurysm, Abdominal/epidemiology/genetics ; Chromosomes, Human/genetics ; Chromosomes, Human, Pair 19/genetics ; Chromosomes, Human, Pair 4/genetics ; Female ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Genotype ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Middle Aged ; Phenotype ; Polymerase Chain Reaction
[en] BACKGROUND: Abdominal aortic aneurysm (AAA) is a relatively common disease, with 1% to 2% of the population harboring aneurysms. Genetic risk factors are likely to contribute to the development of AAAs, although no such risk factors have been identified. METHODS AND RESULTS: We performed a whole-genome scan of AAA using affected-relative-pair (ARP) linkage analysis that includes covariates to allow for genetic heterogeneity. We found strong evidence of linkage (logarithm of odds [LOD] score=4.64) to a region near marker D19S433 at 51.88 centimorgans (cM) on chromosome 19 with 36 families (75 ARPs) when including sex and the number of affected first-degree relatives of the proband (N(aff)) as covariates. We then genotyped 83 additional families for the same markers and typed additional markers for all families and obtained a LOD score of 4.75 (P=0.00014) with sex, N(aff), and their interaction as covariates near marker D19S416 (58.69 cM). We also identified a region on chromosome 4 with a LOD score of 3.73 (P=0.0012) near marker D4S1644 using the same covariate model as for chromosome 19. CONCLUSIONS: Our results provide evidence for genetic heterogeneity and the presence of susceptibility loci for AAA on chromosomes 19q13 and 4q31.
http://hdl.handle.net/2268/116569
10.1161/01.CIR.0000127857.77161.A1

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