Very important pharmacogenes polymorphism landscape and potential clinical relevance in the Chinese Mongolian

Abstract

Purpose: Our study genotyped pharmacogenes in 200 individuals from Inner Mongolia Autonomous Region, China. Aim to find distinct pharmacogenomic variations among the Mongolian population and to investigate the potential clinically operable gene-drug connection and genotype-phenotype correlation of differential variation in the Mongolian population.

Methods: We sampled 61 variations of 28 genes in PharmGKB and genotyped them using Agena MassARRAY Assay. We also obtained the allele frequency and genotype distribution data of 26 populations from the 1000 Genomes Project (1000G), and then conducted comparison and statistical analysis.

Results: After Bonferroni correction, there were significant genotype frequency distribution differences between the Mongolian and 26 populations: PTGS2 (rs20417), NAT2 (rs1801280, rs1799929, and rs1208), ALOX5(rs2115819), and CYP2D6 (rs1065852). It was also found that the KHV showed the smallest differences from the Mongolian and the GWD showed the largest differences. Furthermore, the differences in variants might be related to the risk of non-steroidal anti-inflammatory drug use, the slow acetylation phenotype, and other pharmacological effectiveness and toxicity in the Mongolian population.

Conclusion: Our study demonstrates different pharmacogenomic variants in the Mongolian and fills the gaps in pharmacogenomic information of the Mongolian. Our analysis of VIPs variants in the Mongolian population may contribute to the development of safer treatment regimens and the use of personalized treatment approaches.

Keywords: Genetic polymorphism; Mongolian; Pharmacogenes; VIP variants.