Investigation of TGF beta R2 SNP rs4522809, Osteopontin, TGF beta 1 and their association with dilatative pathology of ascending thoracic aorta

摘要

Background: Dilatative pathology of the ascending thoracic aorta (DPATA) is characterized by the aortic wall expansion more than 1.5 and could be accompanied by aortic wall rupture. Mutations of TGFBR2 gene demonstrated an association with syndromic DPATA and altered pathway of transforming growth factor beta (TGF-beta). Elevated TGF-beta 1 level has been found in blood samples in DPATA group. Moreover, elevated osteopontin (OPN) level was associated with mutations of TGFBR2 gene. Based on recently published findings, we aimed to evaluate genotyping results of TGFBR2 rs4522809 and the association with circulating OPN and TGF-beta 1 concentrations within DPATA patients.