FEATURES OF DISTRIBUTION OF E670G GENE POLYMORPHISM IN PATIENTS WITH HETEROZYGOUS FAMILIAL AND NON-FAMILY HYPERCHOLESTEROLEMIA

The aim of study: To study the distribution of E670G gene polymorphism in patients with the heterozygous familial and non-family hypercholesterolemia, its relationship with the clinical course of the disease, the level of lipids, markers of inflammation and proprotein convertase subtilisin/kexin type 9 in the blood. Material and methods: The research has covered 201 patients, where 57 patients with chronic stable coronary artery disease (SCAD) and heterozygous familial hypercholesterolemia (HeFH) and 144 patients with SCAD without HeFH in the control group have been divided into two subgroups: A – statin free before the research (n = 63) and B (n = 81) who took it outpatiently. We applied the Dutch Lipid Clinic Network Criteria (DLCN) to diagnose the HeFH. Serum level of PCSK-9 was measured with ELISA Kit. The genetic typing at PCSK-9 E670G (rs505151) polymorphism was performed by means of PCR-RFLP method. Results. The study of genotypes and alleles of PCSK-9 E670G (rs505151) polymorphism in patients allowed to state that сarriage of «damaging» allele G with SCAD and HeHF patients was 2 times higher (11.4 %), than with non HeHF (6,0 %) and 3 times (3.0 %) than with healthy ones, but the differences were not significant. (P < 0,05), coronary artery bypass grafting in anamnesis (P < 0,001), and number of plaques in carotids (P < 0,05). In group I of SCAD patients with HeFH–18 (31.6 %) cases of diabetes mellitus were observed, which did not exceed their number in group II – 48 (33.3 %). However, most of them were carriers of G allele (82,0 %, P < 0,001). Conclusion. Evaluation of the E670G polymorphism of the PCSK-9 gene in patients with heterozygous familial hypercholesterolemia improves the diagnosis of the disease in difficalt cases and identification of patients with the high risk of the cardiovascular complications.