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By R. Grundmann

ISBN-10: 9533074663

ISBN-13: 9789533074665

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Additional resources for Diag., Scrng, Trtmt of Abdominal, Thoracoabdominal, Thoracic Aortic Aneurysms

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5 Human leukocyte antigen genes The Human Leukocyte Antigen (HLA) system is a genetically determined series of antigens that are expressed on leukocytes and tissues. They control a variety of cell-cell interactions and certain subtypes have been associated with chronic inflammatory conditions such as rheumatoid arthritis (Sandford et al, 2007). An autoimmune component to the pathogenesis of AAA has been proposed, implicating HLA subtypes. In a Japanese population, an increased frequency of the HLA-DR2(15) allele has been demonstrated in aneurysm patients.

Reported increased frequency of TT and CT genotypes in people with AAA compared to normal population (Jones et al, 2003). However, other studies on MMP-9 had not demonstrated similar genetic predisposition (Yoon et al, 1999; Higashikata et al, 2004). Platelet activating factor (PAF) can induce MMP1, MMP-2, and MMP-9 transcription. The activity of PAF is regulated by PAF acetylhydrolase (PAF-AH). A guanine to thymidine substitution in position 994 of the exon 9 (PAF-AH +994 G>T) results in lower enzymatic activity of PAF-AH with increased PAF level.

It has been termed ‘I’ for insertion of the fragment or ‘D’ for its deletion. The polymorphism accounts for three genotypes (DD and II homozygotes and ID heterozygotes. Because the alleles are co-dominant with an additive effect on plasma levels, DD Pathophysiology of Abdominal Aortic Aneurysm – Genetic Factors and Homocysteine Metabolism 27 homozygotes have the highest plasma levels of ACE, while II homozygotes have the lowest (Thompson et al, 2008; Sandford et al, 2007; Fatini et al, 2005). Patients in whom the polymorphism is present have been found to have a 50% reduction in ACE levels with subsequent reduction of angiotensin II levels (Fatini et al, 2005).

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Diag., Scrng, Trtmt of Abdominal, Thoracoabdominal, Thoracic Aortic Aneurysms by R. Grundmann

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