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Pharmacogenomic variants in the Pumi population from Yunnan, China

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资源类型：
Pubmed体系：
作者：
Yang Xin[1] * ; Cheng Yujing[1] * ; Li Qi[1] ; Chen Wanlu[1] ; Wang Ying[1] ; Zhang Chan[1] ; Zhang Xinyu[2] ;
机构： [1]Department of blood transfusion, The First People’s Hospital of Yunnan Province. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, Yunnan, China [2]Maternal and Child Health Service Center of Nujiang Autonomous Prefecture, Lushui 673599, Yunnan, China
出处：
DOI： 10.1016/j.gene.2025.149421
ISSN：

关键词： Pharmacogenomics Pumi population VIP variants Genetic structure Pairwise Fst

摘要：
Pharmacogenomics is used to identify genetic factors that influence drug responses, thereby optimizing therapeutic outcomes and reducing adverse effects. The objective of this study is to identify pharmacogenomic variations and their clinical relevance to drug metabolism and toxicity within the Pumi population.Eighty-two genetic variants in 43 genes were genotyped in 200 unrelated Pumi individuals using the Agena MassARRAY Assay. Chi-square tests, adjusted for multiple comparisons with Bonferroni correction, were used to compare genotype frequency divergences between the Pumi population and 26 other populations. Population genetic structure diversity and pairwise F-statistics (Fst) were assessed across 27 populations using Structure v2.3.1 and Arlequin v3.5 software.After Bonferroni correction, a number of single nucleotide variations (SNVs) exhibited significant differences in frequency between the Pumi population and other populations. The allele frequencies of ADH1A rs975833, ADH1B rs1229984, TPMT rs1142345, and CYP2A6 rs8192726 in the Pumi population were notably different from the East Asian population or the other 26 populations. PharmGKB data indicate that rs1229984, rs1142345, and rs8192726 are associated with the metabolic efficiency of acetaldehyde, mercaptopurine, and efavirenz, respectively. Additionally, the genetic structure analysis (K = 5) and pairwise Fst calculations revealed that the Pumi population shared a similar genetic background with CHB (Fst = 0.031), JPT (Fst = 0.033), KHV (Fst = 0.035), CHS (Fst = 0.036), and CDX (Fst = 0.037) populations.Our findings reveal unique genetic variations and biomarkers within the Pumi population, which contributes pharmacogenomic insights and theoretical foundations for personalized medicine tailored to the Pumi population.Copyright © 2025 Elsevier B.V. All rights reserved.

基金：
Applied Basic Research Foundation of Yunnan Province(CN) [grant number: 2017FE468 (− 125) and 202001AY070001-111], the Open Project of the Clinical Medicine Center of the First People’s Hospital of Yunnan Province [grant number:2021LCZXXF-XY12] and CAMS Innovation Fund for Medical Sciences (ClFMS) [grant number: 2016–12 M-3–024], Yunnan Province Clinical Research Center for Hematologic Disease [grant number: 2022LCZXKF-XY04], Yunnan Province Clinical Research Center forHematologic Disease (2023YZX-XY02) and the Kunming University of Science and Technology & the First People’s Hospital of Yunnan Province Joint Special Project on MedicalResearch (KUST-KH2022028Y), Yunnan Fundamental Research Projects (202401AY070001109), Science and technology plan project of Yunnan Province (202403AC100017), Open Research of Key Laboratory of Innovative Application of Characteristic Traditional Chinese Medicine in Yunnan Province (2024ZYZDKFKT-05), Yunnan Provincial Clinical Medical Center for Blood Diseases and Thrombosis Prevention and Treatment.
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2025]版：
无
最新[2025]版：
大类 | 3 区 生物学
小类 | 3 区 遗传学
第一作者：
第一作者机构： [1]Department of blood transfusion, The First People’s Hospital of Yunnan Province. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, Yunnan, China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Yang Xin,Cheng Yujing,Li Qi,et al.Pharmacogenomic variants in the Pumi population from Yunnan, China[J].Gene.2025,953:149421.doi:10.1016/j.gene.2025.149421.
APA：
Yang Xin,Cheng Yujing,Li Qi,Chen Wanlu,Wang Ying...&Zhang Xinyu.(2025).Pharmacogenomic variants in the Pumi population from Yunnan, China.Gene,953,
MLA：
Yang Xin,et al."Pharmacogenomic variants in the Pumi population from Yunnan, China".Gene 953.(2025):149421

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