Biochemical and molecular genetic studies of abdominal aortic aneurysm in an irish population

Analysis of Sequence Variations in the <i>ABCC6</i> Gene among Patients with Abdominal Aortic Aneurysm and Pseudoxanthoma Elasticum

“…Consequently, further genes that possibly affect the development of AAAs should be characterized by mutational analysis. The pathogenesis of aneurysms is accompanied by a degradation of extracellular matrix components, such as elastic and collagenous fibers [2, 8, 9]. Elastin is the major structural component of the aortic wall, and its degradation may be considered as the initial event in the formation of aneurysms [40].…”

“…In addition, familial aggregation of AAAs suggests that there are candidate genes that contribute to the pathogenesis of AAAs [1, 7]. The development of aneurysms is associated with a thinning of the vessel wall, which is accompanied by a remodeling of the connective tissue of the aortic wall, including the fragmentation of elastic and collagenous fibers [2, 8, 9]. …”

Circulating Markers of Abdominal Aortic Aneurysm Presence and Progression

“…Matrix degrading enzymes implicated in AAA include the MMP and cathepsin groups [22,30,39,40]. Surprisingly relatively few and small studies have compared the circulating concentrations of these enzymes or their inhibitors in patients with AAA and controls [34,41-46]. Circulating MMP-9 concentrations have been most frequently investigated but the findings have not been completely consistent (Table I) [34,41-45].…”

“…All studies assessing plasma MMP-9 concentrations however did report higher mean concentrations in subjects with AAA although this difference only reached significance in 3 of 4 studies [42-45]. Single studies have investigated the association of circulating concentrations of MMP-1, -2, -3, tissue inhibitor of matrix metalloproteinase-1 and α1antitrypsin with AAA [32,34,43,46]. These studies reported higher concentrations of MMP-3 and tissue inhibitor of matrix metalloproteinase-1 in patients with AAA but the sample sizes (n=55 and 53) and absence of replication make any firm conclusions impossible [32,43].…”

“…A number of studies [52,79,83] but not all [46,81,84] have shown slightly higher concentrations of serum triglycerides in patients with AAA. This association has not generally been maintained when adjusting for other risk factors such as atherothrombosis [52].…”