The Role and Significance of Polymorphisms of Certain Genes in Patients with Abdominal Aortic Aneurysm

INTRODUCTION: To date, many factors that influence the risk and course of abdominal aortic aneurysm (AAA) are not studied. Increasing significance in the etiology and development of AAA is assigned to the existence of some genetic polymorphisms, the role of many of them is not studied either.

AIM: To analyze the existence of association of the abdominal aortic aneurysm with some gene polymorphisms (GPs).

MATERIALS AND METHODS: Gene polymorphisms were analyzed in 20 patients with AAA (study group, SG); 18 men (90%) and 2 women (10%), the mean age 68.1 ± 7.3 years), and in 5 patients without AAA (control group, CG; 4 men (80%) and 1 woman (20%), the mean age 64.2 ± 7.2 years). The frequency of concomitant diseases and risk factors for AAA were determined. The following GPs were studied: : Lys198Asn in the EDN1 gene; C-786T in the NOS3 gene; Leu28Pro in the APOE gene; Val174Ala in the SLC01B1 gene; Thr715Pro in the SELP gene; C807T in the ITGA2 gene; Ser447Ter in the LpL gene; Thr174Met in the AGT gene; Met235Thr in the AGT gene. Statistical analysis was performed using IBM SPSS Statistics 21, correlation analysis ― according to Pearson. The results were considered statistically significant at p < 0.05.

RESULTS: In the SG, correlation relationships were identified in Ser447Ter polymorphism in the LpL gene: direct relationships with Lys198Asn polymorphism (r = 0.63; р < 0.001) in the EDN1 gene, Leu28Pro (r = 0.70; р < 0.001) in the APOE gene and Thr715Pro (r = 0.63; р < 0.001) in the SELP gene; a reverse relationship with С786Т polymorphism (r = -0.35; р = 0.006) in the NOS3 gene. The same amount of relationships were found in Leu28Pro polymorphism in the APOE gene: besides with Ser447Ter in the LpL gene, there is also a direct relationship with Lys198Asn (r = 0.70; р < 0.001) in the EDN1 gene and Thr715Pro (r = 0.63; р < 0.001) in the SELP gene; a reverse relationship with С786Т (r = -0.35; р = 0.006) in the NOS3 gene. Thr715Pro polymorphism in the SELP gene, along with relationships with Ser447Ter (r = 0.63; р < 0.001) in the LpL gene and Leu28Pro in the APOE gene, has an additional direct relationship with Lys198Asn (r = 0.55; р < 0.001) in the EDN1 gene. Thr174Met polymorphism in the AGT gene has a reverse relationship with Leu28Pro (r = -0.35; р = 0.006) in the APOE gene and direct relationship with Val174Ala (r = 0.40; р = 0.002) in the SLC01B1 gene. With this, Met235Thr polymorphism in the AGT gene has a direct relationship with Val174Ala (r = 0.33; p = 0.011) in the SLC01B1 gene and reverse relationship with C807T in the ITGA2 gene.

CONCLUSION: The existence of direct correlations of some gene polymorphisms in patients with abdominal aortic aneurysm has been established, which indicates their probable role in the development of this pathology and may be used as a screening test for determination of the likelihood for its development.