Structural variation of the APOBEC3A-APOBEC3B locus in patients with carotid atherosclerosis comorbid with acute cerebrovascular accidents and diabetes mellitus

In our previous studies, we found a deletion (Δ3AB) that led to the gene fusion of APOBEC3A and APOBEC3B in patients with coronary heart disease and metabolic syndrome. The protein products of the APOBEC3A and APOBEC3B genes are involved in the regulation of low-density lipoproteins (apoB), which is a key factor of atherogenicity. Aim. Assess the frequency of deletion at the APOBEC3A-APOBEC3B locus in relation to the risk of developing atherosclerosis with comorbidities. Materials and methods. Patients with carotid atherosclerosis and with different comorbidity of acute cerebrovascular accident (ACVA) and type 2 diabetes mellitus (DM) (n = 118), and control group (n = 96). To assess CNV used digital droplet PCR (ddPCR). Results. It was shown that a heterozygous deletion Δ3AB has a low frequency in the studied groups (12% on average). No differences in the frequency of alleles and genotypes between patients and the control group were found. However, in patients with carotid atherosclerosis and without both ACVA and DM (n = 39), no carriers of this CNV were detected. In contrast, the frequency of heterozygous deletion (Δ3AB) in the other patient groups between 11% to 16%. Summary. For the first time, a Δ3AB deletion frequency was found to be 12%. It is suggested that this CNV may increase the risk of ACVA and DM.

вариации по числу участков ДНК, APOBEC3, атеросклероз, капельная цифровая ПЦР, copy number variation, APOBEC3, atherosclerosis, droplet digital PCR