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.

中文翻译：

---

波兰胸主动脉病患者 MMP1、MMP9、COL1A1 和 COL1A2 的基因多态性


背景。胸主动脉病的发病机制复杂，许多证据表明遗传因素的影响。一些具有多态性的基因被广泛认为是主动脉瘤发生和发展的关键因素。我们研究的目的是分析MMP1 rs1799750 (c.-1607G>GG)、 MMP9 rs3918242 (c.-1562C>T)、 COL1A1 rs1800012 (c.1245G>T) 和COL1A2 rs42524 遗传多态性的关联。 c.1645G>C）与波兰患者易患胸主动脉病以及这些患者的临床特征有关。方法。该研究对 96 名胸主动脉病变患者（47 名升主动脉瘤患者和 49 名胸主动脉夹层患者）和 61 名无胸主动脉病变的对照受试者进行。通过PCR-RFLP测定MMP1 、 MMP9 、 COL1A1和COL1A2多态性。结果。 MMP1 、 MMP9 、 COL1A1和COL1A2基因型或等位基因的频率分布没有发现显着差异 (1) 对照组和升主动脉瘤 (AsAA) 患者之间，(2) 对照组和胸主动脉瘤患者之间解剖（TAD），或（3）AsAA 和 TAD 患者之间。多因素logistic回归分析显示MMP1和MMP9多态性与主动脉瓣关闭不全程度相关。结论。 我们的研究结果不支持MMP1 、 MMP9 、 COL1A1和COL1A2基因变异与波兰患者胸动脉疾病风险之间的关联。然而，rs1799750 MMP1和rs3918242 MMP9似乎与主动脉瓣关闭不全的程度相关。