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Background   The pathogenesis of thoracic aortopathy is complex, and much evidence suggests the influence of genetic factors. Some genes with polymorphisms are widely considered critical factors in the initiation and development of aortic aneurysm. The aim of our study was to analyze the association of genetic polymorphisms of  MMP1  rs1799750 (c.-1607G>GG),  MMP9  rs3918242 (c.-1562C>T),  COL1A1  rs1800012 (c.1245G>T), and  COL1A2  rs42524 (c.1645G>C) with predisposition to thoracic aortopathy in Polish patients and with clinical characteristics of these patients.Methods   The study was carried out with 96 patients with thoracic aortopathy (47 patients with ascending aortic aneurysm and 49 patients with thoracic aortic dissection) and 61 control subjects without thoracic aortopathy. The  MMP1 ,  MMP9 ,  COL1A1 , and  COL1A2  polymorphisms were determined by PCR-RFLP.Results   No significant differences in the frequency distributions of  MMP1 ,  MMP9 ,  COL1A1 , and  COL1A2  genotypes or alleles were found (1) between the control group and patients with ascending aortic aneurysm (AsAA), (2) between the control group and patients with thoracic aortic dissection (TAD), or (3) between AsAA and TAD patients. Multivariate logistic regression analysis revealed that  MMP1  and  MMP9  polymorphisms were associated with the degree of aortic valve regurgitation.Conclusion   The results of our study did not support associations between  MMP1 ,  MMP9 ,  COL1A1 , and  COL1A2  genetic variants with the risk of thoracic artery disease in Polish patients. However, rs1799750  MMP1  and rs3918242  MMP9  seem to be associated with the degree of aortic regurgitation.

Genetic Polymorphisms ofMMP1,MMP9,COL1A1, andCOL1A2in Polish Patients with Thoracic Aortopathy