Abstracts of the 3rd Joint Meeting of Pathology and Laboratory Medicine

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Background: Degenerative forms of mitral valve diseases (MVDs) arecomplex pathologies. Thus, it is difficult to make generalizations aboutMVD pathways or genetic risk factors. However, a key role ofmetalloproteinases (MMPs) in their pathophysiology is emerging. Thus,we performed a study to assess eventual associations of some functionalSNPs in MMP-2 and MMP-9 genes with MVD risk, symptom severity andshort- and long-term (4.8 years) complications.Methods: For this purpose, 90 patients and two control groups weregenotyped for MMP-2 and MMP-9 gene SNPs, and systemic levels of proatrialnatriuretic peptide (ANP), and two enzymes were quantified andcorrelated to the MMP-2 and MMP-9 SNPs. In addition, associationsbetween these SNPs and symptom severity and short- and long-termcomplications were evaluated.Results: Interestingly, rs3918242 MMP-9 and rs2285053 MMP-2 SNPswere significantly represented in cases compared to two control groups,and were associated with a higher MVD risk. Cases stratified for NewYork Heart Association (NYHA) symptoms, and particularly NYHA III+IV,with rs3918242 CT+TT MMP-9 and rs2285053CT+TT genotypes alsoshowed higher severity related to significant higher systemic levels ofMMP enzymes and pro-ANP at enrollment and 4.8-year follow-up times.In addition, cases with these genotypes, and particularly NYHAIII+IV, hada very significant percentage of complications, particularly at the 4.8-yearfollow-up. Surprisingly, 20% of patient controls developed MVD at 4.8-year follow-up and were carriers of these genotypes.Conclusions: The associations observed seem to suggest that the twoSNPs might represent useful biomarkers and targets for preventing and monitoring MVDs, leading to a more appropriate management andoutcome
Lingua originaleEnglish
pagine (da-a)S1-S32
Numero di pagine1
Stato di pubblicazionePublished - 2016


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