Genetic Factors as Promising Biomarkers of SporadicAscending Aortic Aneurysm

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Thoracic aorta shows various changes with advancing ageand a progressive deterioration in structure and function. As a result,vascular remodeling (VR) and medial degeneration (MD) occur. VR andMD are typical entities of sporadic thoracic aortic aneurysm (TAA),actually considered a common and serious health risk and a pathology byunclear mechanisms. Increased activity of the coagulation system,inflammation, activation of extracellular matrix remodeling and endothelialdysfunction pathways have been recently evidenced to have a key role inits onset. Thus, polymorphisms of the coagulation system [fibrinogen(rs1800790); Factor II ( rs1799963); Factor V (rs6025); Factor VII(rs121964926); tPA ( rs2020918); PAI-1 (rs1799768); TAFI (rs2146881)],inflammation [TLR4 (rs4986790); CCR5 (rs333)], extra-cellular matrixremodeling [MMP9 (rs3918242); MMP2 (rs243865)], endotheliumdysfunction [eNOs (rs 1799983); ACE (rs1799752)] were analyzed.Methods: A total of 161 TAA individuals (127 men and 34 women; meanage: 63±10.7) and 128 controls (61 men and 67 women; mean age:61.08±5.83 years) from Western Sicily were enrolled. Their DNA sampleswere genotyped for the selected polymorphisms.Results: Inconsistent associations of coagulation polymorphisms withTAA were observed while analysing preliminary data. More relevantresults might be obtained when analysing their combined genotypes.Interestingly, we observed that the rs4986790 TLR4 polymorphismconfers a higher susceptibility for sporadic TAA and it represents togetherwith rs1799752 ACE, rs3918242 MMP-9 and rs2285053 MMP-2 SNPs, anindependent sporadic TAA risk factor. Their combined risk genotype wasalso associated with TAA.Conclusions: Results obtained seem to suggest a new perspective forthe diagnosis and prevention of sporadic TAA, utilizing genetic profiles aspossible risk biomarkers.
Lingua originaleEnglish
Numero di pagine1
Stato di pubblicazionePublished - 2014


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