This study determined the allelic frequencies and genotype distribution of the NPC1L1 gene rs2073547 polymorphism in the population of the Republic of Moldova, offering foundational data for the implementation of personalized medicine in hypercholesterolemia management. Using the TaqMan genotyping method, the results showed a predominant A allele (78.6%) and a less frequent G allele (21.4%), indicating a genetic profile similar to that observed in European populations. Genotype frequencies revealed a high prevalence of the AA homozygous genotype (62.9%), followed by AG heterozygous (31.5%) and GG homozygous (5.6%) genotypes. The distribution was consistent with Hardy-Weinberg equilibrium (χ2 = 1.629, p = 0.202). Comparative analysis with European populations confirmed genetic similarities, although minor differences in AA and AG genotype frequencies were observed. The identification of G allele carriers—individuals with AG or GG genotypes—accounting for 37.1% of the studied group, highlights the potential for interindividual variability in the pharmacological response to ezetimibe. This finding underscores the importance of integrating pharmacogenetic testing into clinical practice to optimize therapeutic outcomes. Overall, the study supports the feasibility of applying molecular genetic techniques in Moldova and provides a scientific rationale for future pharmacogenetic research focused on improving ezetimibe efficacy, laying the groundwork for more effective, personalized strategies in the treatment of hypercholesterolemia in the Republic of Moldova.

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Molecular-Genetic Particularities of the NPC1L1 Gene rs2073547 Polymorphism in the Population of the Republic of Moldova

  • Maria Doni,
  • Daniela Galea-Abdusa,
  • Diana Chiosa,
  • Anastasia Buza,
  • Alexei Levitchi,
  • Ghenadie Curocichin

摘要

This study determined the allelic frequencies and genotype distribution of the NPC1L1 gene rs2073547 polymorphism in the population of the Republic of Moldova, offering foundational data for the implementation of personalized medicine in hypercholesterolemia management. Using the TaqMan genotyping method, the results showed a predominant A allele (78.6%) and a less frequent G allele (21.4%), indicating a genetic profile similar to that observed in European populations. Genotype frequencies revealed a high prevalence of the AA homozygous genotype (62.9%), followed by AG heterozygous (31.5%) and GG homozygous (5.6%) genotypes. The distribution was consistent with Hardy-Weinberg equilibrium (χ2 = 1.629, p = 0.202). Comparative analysis with European populations confirmed genetic similarities, although minor differences in AA and AG genotype frequencies were observed. The identification of G allele carriers—individuals with AG or GG genotypes—accounting for 37.1% of the studied group, highlights the potential for interindividual variability in the pharmacological response to ezetimibe. This finding underscores the importance of integrating pharmacogenetic testing into clinical practice to optimize therapeutic outcomes. Overall, the study supports the feasibility of applying molecular genetic techniques in Moldova and provides a scientific rationale for future pharmacogenetic research focused on improving ezetimibe efficacy, laying the groundwork for more effective, personalized strategies in the treatment of hypercholesterolemia in the Republic of Moldova.