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HAS-1 genetic polymorphism in sporadic abdominal aortic aneurysm

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Published Online: Jul 30th 2018 Heart International 2009;4(1):e1 DOI: https://doi.org/10.4081/hi.2009.e1
Authors: Chiara Armani, Stefano Landi, Marco Nuti, Rossella Di Stefano, Alberto Balbarini
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Abstract
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Abstract:
Overview

The hyaluronan synthase 1 (HAS-1) gene
encodes a plasma membrane protein that synthesizes
hyaluronan (HA), an extracellular
matrix molecule. Accumulating evidence
emphasizes the relevance of HA metabolism in
an increasing number of processes of clinical
interest, including abdominal aortic aneurysm
(AAA). The existence of aberrant splicing variants
of the HAS-1 gene could partly explain the
altered extracellular matrix architecture and
influence various biological functions, resulting
in progressive arterial wall failure in the
development of AAA. In the present study, we
assessed the hypothesis that HAS-1 genetic
833A/G polymorphism could be associated with
the risk of AAA by performing a case-control
association study, involving AAA patients and
healthy matched donors.

Keywords

Aneurysm, genetics, hyaluronan synthase, SNP, susceptibility.

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Correspondence

Chiara Armani, Cardiac Thoracic and Vascular Department, University of Pisa, via Paradisa 2, 56124 Pisa, Italy E-mail: armani.chiara@yahoo.it

Received

2008-07-17

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