POLYMORPHISM ANALYSIS OF THE ACTA2 GENE BY PYROSEQUENCING IN PATIENTS WITH NON-FAMILIAL THORACIC AORTIC ANEURYSMS

DOI: https://doi.org/None

V.A. Zhukov (1,2), A.I. Zhernakov (1,2), N.D. Gavrilyuk (1), A.G. Pinaev (2), E.E. Andronov (2), V.E. Uspenskiy (1), O.B. Irtyuga (1), O.M. Moiseeva (1) 1 -Federal Almazov Medical Research Centre, Akkuratova street, 2, St. Petersburg, 197341, Russian Federation; 2 -All-Russia Research Institute for Agricultural Microbiology, Pushkin, Podbelsky Shosse , 3, St. Petersburg, 196608, Russian Federation

Introduction. The ACTA2 gene encodes α-actin in aortic smooth muscle cells, and its mutations may cause thoracic aortic aneurysms. Analysis of ACTA2 polymorphism can be used in a complex risk assessment of non-familial thoracic aortic aneurysms. The aim of the study. To examine the contribution of ACTA2 allelic polymorphism to the development of non-familial thoracic aortic aneurysms. Methods. The protein-coding exons (from 2nd to 9th) and the adjacent intronic regions of ACTA2 were amplified from pooled DNA samples from 83 patients with non-familial aortic aneurysm and 34 healthy controls and sequenced on GS Junior (Roche). Results. In both groups SNPs were detected in introns, but not in exons. Conclusion. No polymorphism was found in coding regions of ACTA2 in 83 patients with non-familial thoracic aortic aneurysms. Further analysis in larger cohorts of patients will clarify the feasibility of sequencing ACTA2 in cases of non-familial aortic aneurysms.
Keywords: 
NGS (Next Generation Sequencing), ACTA2, aortic aneurysms, gene polymorphism
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