Оценка взаимосвязи генетических вариантов липидного обмена с уровнем триглицерид-содержащих липопротеинов и смешанной дислипидемией у пациентов с ишемической болезнью сердца.

Aim. To assess the relationship between gene variants regulating the metabolism of LDL cholesterol (LDLR, APOB, PCSK9), TG (LPL, APOC3), and their combinations with the level of triglyceride‑rich lipoproteins in patients with coronary artery disease, to identify genetic combinations that are more common in the mixed phenotype with simultaneous elevation of TG and LDL cholesterol, and to evaluate the interaction with glucose, insulin, BMI, and waist circumference.Materials and methods. The study included 66 patients with coronary artery disease, in whom genetic polymorphisms such as LDLR, APOB, PCSK9, LPL, APOC3 were examined using NGS. All patients were assessed for anthropometric and biochemical parameters.Results. In a group of 66 examined patients with coronary artery disease the combination of APOC3 c.102T>C + APOB p.Ser4338Asn turned out to be the most frequent and showed a tendency to more frequent mixed DLP (simultaneous increase in TG ≥150 mg/dl (≥1.7 mmol/L) and LDL cholesterol ≥100 mg/dl (≥2.6 mmol/L), which is probably explained by the small number of observations. Waist circumference, BMI, glucose, and insulin were associated with TG more consistently than most of the common genotypic combinations studied. This supports the model of the interaction between genetic predisposition and insulin resistance and obesity.Conclusion. The combination of APOC3 c.102T>C + APOB p.Ser4338Asn tended to be associated with mixed dyslipidemia, however, it cannot be considered as a proven genetic predictor. These findings are preliminary and require validation in larger cohorts with functional assessment of the identified variants. Further research is needed to clarify the relationship between variants of lipid metabolism genes and their combinations with the level of triglyceride‑containing lipoproteins.