Aim. To study the impact of ANRIL rs1333049 and LPA rs10455872 polymorphisms on the clinical status of patients with heterozygous familial hypercholesterolemia (FH) and hyperlipoproteinemia(a) (hyperLP(a)). Material and methods. A total of 171 patients aged 3 to 44 years were examined. Lipid profile, apolipoprotein B (apoB), and lipoprotein(a) (LP(a)) were determined using chemiluminescence immunoassay on the Roche Cobas 8000 automated modular analyzer. Single-nucleotide variant (SNV) carriage was determined using polymerase chain reaction (PCR) on a Rotor-Gene 6000 system with TaqMan allelic discrimination technology and Applied Biosystems fluorescent probes for LPA rs10455872 (A/G) and ANRIL rs1333049 (C/G). Genotype frequency distributions corresponded to Hardy-Weinberg equilibrium. Extracranial vessel ultrasound was assessed taking into account age-specific references. Results. A study of relationship between the ANRIL rs1333049 and LPA rs10455872 in patients with FH and hyperLA revealed that the CG genotype of ANRIL rs1333049 directly correlates with apoB levels and intima-media thickness (IMT) in both target groups. An influence of the AG genotype of LPA rs10455872 on apoB, LP(a), and IMT levels was revealed in patients with FH and hyperLA(a). The mean age at onset of coronary events was 35 years. The incidence of myocardial infarction was 2,5 times higher in the FH group than in the LP(a) group. Conclusion. In patients with FH and hyperLA(a), a predominance of the ANRIL CG genotype is associated with high apoB, IMT, and the incidence of coronary events. The AG genotype of LPA rs10455872 is associated with high LP(a) levels, increased IMT, and the risk of early myocardial infarction.

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