Analysis of Very Important Pharmacogenomics Variants in the Chinese Lahu Population

Cheng, Yujing; Li, Qi; Yang, Xin; Ding, Heng; Chen, Wanlu; Dai, Run; Zhang, Chan

doi:10.2147/pgpm.s324410

Cited by 3 publications

(1 citation statement)

References 29 publications

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“…The genetic background plays a crucial role in pharmacological reactions 6 – 11 . Over the last decades, pharmacogenetic studies identified several pharmacogenes and functional variants associated with drug response and helped in the identification of genes that can explain variation in drug response, known as pharmacogenes, as well as pharmacodynamics 10 – 15 . Variant–drug response associations have been established for many of these genes and this information can be translated into the clinical setting 16 – 18 .…”

Section: Introductionmentioning

confidence: 99%

Genetic diversity of variants involved in drug response among Tunisian and Italian populations toward personalized medicine

Jmel,

Sarno,

Giuliani

et al. 2024

Sci Rep

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Adverse drug reactions (ADR) represent a significant contributor to morbidity and mortality, imposing a substantial financial burden. Genetic ancestry plays a crucial role in drug response. The aim of this study is to characterize the genetic variability of selected pharmacogenes involved with ADR in Tunisians and Italians, with a comparative analysis against global populations. A cohort of 135 healthy Tunisians and 737 Italians were genotyped using a SNP array. Variants located in 25 Very Important Pharmacogenes implicated in ADR were extracted from the genotyping data. Distribution analysis of common variants in Tunisian and Italian populations in comparison to 24 publicly available worldwide populations was performed using PLINK and R software. Results from Principle Component and ADMIXTURE analyses showed a high genetic similarity among Mediterranean populations, distinguishing them from Sub-Saharan African and Asian populations. The Fst comparative analysis identified 27 variants exhibiting significant differentiation between the studied populations. Among these variants, four SNPs rs622342, rs3846662, rs7294, rs5215 located in SLC22A1, HMGCR, VKORC1 and KCNJ11 genes respectively, are reported to be associated with ethnic variability in drug responses. In conclusion, correlating the frequencies of genotype risk variants with their associated ADRs would enhance drug outcomes and the implementation of personalized medicine in the studied populations.

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Section: Introductionmentioning

confidence: 99%

Genetic diversity of variants involved in drug response among Tunisian and Italian populations toward personalized medicine

Jmel,

Sarno,

Giuliani

et al. 2024

Sci Rep

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Very important pharmacogenetic variants landscape and potential clinical relevance in the Zhuang population from Yunnan province

Li,

Chang,

Yan

et al. 2024

Sci Rep

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The gradual evolution of pharmacogenomics has shed light on the genetic basis for inter-individual drug response variations across diverse populations. This study aimed to identify pharmacogenomic variants that differ in Zhuang population compared with other populations and investigate their potential clinical relevance in gene-drug and genotypic-phenotypic associations. A total of 48 variants from 24 genes were genotyped in 200 Zhuang subjects using the Agena MassARRAY platform. The allele frequencies and genotype distribution data of 26 populations were obtained from the 1000 Genomes Project, followed by a comparison and statistical analysis. After Bonferroni correction, significant differences in genotype frequencies were observed of CYP3A5 (rs776746), ACE (rs4291), KCNH2 (rs1805123), and CYP2D6 (rs1065852) between the Zhuang population and the other 26 populations. It was also found that the Chinese Dai in Xishuangbanna, China, Han Chinese in Beijing, China, and Southern Han Chinese, China showed least deviation from the Zhuang population. The Esan in Nigeria, Gambian in Western Division, The Gambia, and Yoruba in Ibadan, Nigeria exhibited the largest differences. This was also proved by structural analysis, Fst analysis and phylogenetic tree. Furthermore, these differential variants may be associated with the pharmacological efficacy and toxicity of Captopril, Amlodipine, Lisinopril, metoclopramide, and alpha-hydroxymetoprolol in the Zhuang population. Our study has filled the gap of pharmacogenomic information in the Zhuang population and has provided a theoretical framework for the secure administration of drugs in the Zhuang population.

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Genetic Polymorphisms of very Important Pharmacogene Variants in the Chinese Lisu Population

Zhang

Wang

et al. 2023

Per. Med.

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Aim: Interindividual and interethnic differences in drug efficacy drive the development and progress of pharmacogenomics and precision medicine. This study was performed to enrich the pharmacogenomic information for the Lisu population from China. Methods: Fifty-four very important pharmacogene variants were selected from PharmGKB and genotyped in 199 Lisu individuals. The genotype distribution data of 26 populations were downloaded from the 1000 Genomes Project and analyzed with the χ2 test. Results: Among the 26 populations in the 1000 Genomes Project, African Caribbeans in Barbados; Esan in Nigeria; Gambian in Western Divisions, The Gambia; Luhya in Webuye, Kenya; Yoruba in Ibadan; Finnish in Finland; Toscani in Italy and Sri Lankan Tamil in the UK were the top eight nationalities with the most significant differences in genotype distribution from the Lisu population. The loci of CYP3A5 rs776746, KCNH2 rs1805123, ACE rs4291, SLC19A1 rs1051298 and CYP2D6 rs1065852 were significantly different in the Lisu. Conclusion: The results showed that there were substantial differences in SNPs of very important pharmacogene variants, which can provide a theoretical basis for individualized drug use for the Lisu.

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Analysis of Very Important Pharmacogenomics Variants in the Chinese Lahu Population

Cited by 3 publications

References 29 publications

Genetic diversity of variants involved in drug response among Tunisian and Italian populations toward personalized medicine

Genetic diversity of variants involved in drug response among Tunisian and Italian populations toward personalized medicine

Very important pharmacogenetic variants landscape and potential clinical relevance in the Zhuang population from Yunnan province

Genetic Polymorphisms of very Important Pharmacogene Variants in the Chinese Lisu Population

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