Genetic Polymorphisms of MMP1, MMP9, COL1A1, and COL1A2 in Polish Patients with Thoracic Aortopathy.

Iwona Gorący,Paweł Jakubiszyn,Andrzej Ciechanowicz,Anna Gorący,Krzysztof Safranow,Seweryn Grudniewicz,Mirosław Brykczyński

doi:10.1155/2020/9567239

Iwona Gorący, Paweł Jakubiszyn + Show 5 more

Open Access

https://doi.org/10.1155/2020/9567239

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Journal: Disease markers	Publication Date: Sep 24, 2020
Citations: 3	License type: CC BY 4.0

Affiliation: Pomeranian Medical University

Abstract

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.

Highlights

Thoracic aortic disease is a collective name which includes aortic aneurysm and acute thoracic aortic dissection (TAD) [1]
No significant differences in age, prevalence of hypertension, Ao max, or the frequency of large amounts of regurgitation from the aortic valve (AVR ≥ 2) were found between the control group and ascending aortic aneurysm (AsAA) patients or between the control group and TAD patients
No significant differences in analyzed variables were found between the AsAA and the TAD groups except for Body mass index (BMI), the frequency of diabetes mellitus, and bicuspid aortic valve (BAV) prevalence

Summary

Introduction

Thoracic aortic disease (or thoracic aortopathy) is a collective name which includes aortic aneurysm and acute thoracic aortic dissection (TAD) [1]. It is known that environmental factors contribute to the formation of aneurysms and aortic dissection including age, smoking, hypertension, trauma associated with high overload and vessel inflammation, obesity, familial history, atherosclerotic cardiovascular disease, and family history [2]. Knowledge concerning these risk factors is not yet complete. The MMPs demonstrate a critical role in remodeling of the ECM by proteolytic degradation of its components including collagen and elastin They regulate activity of other proteases, growth factors, chemokines, and cell receptors [4]. 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. Rs1799750 MMP1 and rs3918242 MMP9 seem to be associated with the degree of aortic regurgitation

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