Angiotensin-converting enzyme insertion/deletion polymorphism is a risk factor for thoracic aortic aneurysm in patients with bicuspid or tricuspid aortic valves

Foffa, Ilenia; Murzi, Michele; Mariani, Mario; Mazzone, A.; Glauber, Mattia; Ait-Alì, Lamia; Andreassi, Maria Grazia

doi:10.1016/j.jtcvs.2011.12.038

Cited by 30 publications

(24 citation statements)

References 39 publications

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“…Indel polymorphisms of human genes have long been studied to explore their associations with diseases, and several studies suggest that indel polymorphisms may affect gene functions and increase the risk of developing specific diseases (Arinami et al, 1996;Foffa et al, 2012;Zhou et al, 2009). Indel polymorphisms are closely associated with variations in microsatellite regions in several individual PRV genes and, thus, they may be useful as biomarkers to distinguish subgroups.…”

Section: Discussionmentioning

confidence: 99%

Genomic characterization of emergent pseudorabies virus in China reveals marked sequence divergence: Evidence for the existence of two major genotypes

et al. 2015

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Recently pseudorabies outbreaks have occurred in many vaccinated farms in China. To identify genetic characteristics of pseudorabies virus (PRV) strains, we obtained the genomic sequences of PRV strains HeN1 and JS, which were compared to 4 PRV genomes and 729 partial gene sequences. PRV strains isolated in China showed marked sequence divergence compared to European and American strains. Phylogenetic analysis revealed that for the first time PRV can be divided into 2 distinct clusters, with Chinese strains being genotype II and PRVs isolated from other countries being genotype I. Restriction fragment length polymorphism analysis confirmed differences between HeN1 and Bartha strains, as did the presence of unique insertion/deletion polymorphisms and microsatellites. This divergence between the two genotypes may have been generated from long-term, independent evolution, which could also explain the low efficacy of the Bartha vaccine in protecting pigs infected with genotype II PRV.

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Section: Discussionmentioning

confidence: 99%

Genomic characterization of emergent pseudorabies virus in China reveals marked sequence divergence: Evidence for the existence of two major genotypes

et al. 2015

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“…Finally, multiple other common genetic variants [e.g., angiotensin-converting enzyme (ACE) and matrix metalloproteinase (MMP) polymorphisms] may act as modifier genes in the pathogenesis of BAV aortopathy, contributing to the variability of clinical phenotypes (42,43).…”

Section: Aortic Dilatation: Intrinsic or Induced Development?mentioning

confidence: 99%

Bicuspid aortic valve syndrome: a multidisciplinary approach for a complex entity

et al. 2017

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Bicuspid aortic valve (BAV) or bicuspid aortopathy is the most common congenital heart disease.It can be clinically silent and it is often identified as an incidental finding in otherwise healthy, asymptomatic patients. However, it can be dysfunctioning at birth, even requiring neonatal intervention, or, in time, lead to aortic stenosis, aortic insufficiency, and endocarditis, and also be associated with aortic aneurysm and aortic dissection. Given its prevalence and significant complications, it is estimated that BAV is responsible for more deaths and morbidity than the combined effects of all the other congenital heart defects. Pathology of BAV is still not well known and many questions are unresolved. In this manuscript we review some aspects on bicuspid aortopathy, a heterogeneous and frequent disease in which like some authors have previously described, complex gene environment are present. Further investigations and, what is more, multidisciplinary teams are needed to improve our knowledge on this really fascinating disease.

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“…78 Associations have also been reported between aneurysm risks in BAV patients with polymorphisms in eNOS, angiotensin I-converting enzyme, and MMP-9 and MMP-2 genes. 79,80 Furthermore, downregulation of the ubiquitin fusion degradation 1-like gene, which is highly expressed in the cardiac outflow tract during embryogenesis, has also been noted in BAV, and may represent a candidate gene. 81 In addition to the above studies in humans, animal studies have shed light on the genetic basis of BAV.…”

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confidence: 99%

Genetic Basis of Familial Valvular Heart Disease

Padang

Bagnall

Semsarian

2012

Circ Cardiovasc Genet

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Angiotensin-converting enzyme insertion/deletion polymorphism is a risk factor for thoracic aortic aneurysm in patients with bicuspid or tricuspid aortic valves

Abstract: ACE insertion/deletion polymorphism represents a genetic biomarker for TAA. These findings could have a significant effect on both the early detection and effective pharmacologic treatment of aortic disease.

Cited by 30 publications

References 39 publications

Genomic characterization of emergent pseudorabies virus in China reveals marked sequence divergence: Evidence for the existence of two major genotypes

Genomic characterization of emergent pseudorabies virus in China reveals marked sequence divergence: Evidence for the existence of two major genotypes

Bicuspid aortic valve syndrome: a multidisciplinary approach for a complex entity

Genetic Basis of Familial Valvular Heart Disease

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