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中国西南苗族人群药物基因组学VIP变异体的基因多态性分析

Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.

作者信息

Jin Tianbo, Aikemu Ainiwaer, Zhang Mingxi, Geng Tingting, Feng Tian, Kang Longli, Luo Man Lin

机构信息

Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, China (mainland).

Department of Drug Analysis, Faculty of Pharmacy, Xinjiang Medical University, Urumqi, Xinjiang, China (mainland).

出版信息

Med Sci Monit. 2015 Dec 3;21:3769-76. doi: 10.12659/msm.895191.

DOI:10.12659/msm.895191
PMID:26632549
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4672675/
Abstract

BACKGROUND Genetic polymorphisms have a potential clinical role in determining both inter-individual and inter-ethnic differences in drug efficacy, but we have not found any pharmacogenomics information regarding minorities, such as the Miao ethnic group. Our study aimed to screen numbers of the Miao ethnic group for genotype frequencies of VIP variants and to determine differences between the Miao and other human populations worldwide. MATERIAL AND METHODS In this study, we genotyped 66 Very Important Pharmacogene (VIP) variants selected from PharmGKB in 98 unrelated, healthy Miao individuals from the Guizhou province and compared our data with 12 other populations, including 11 populations from the HapMap data set and Xi'an Han Chinese. RESULTS Using the χ2 test, we found that the allele frequencies of the VDR rs1544410 and VKORC1 (rs9934438) variants in the Miao population are quite different from that in other ethnic groups. Furthermore, we found that genotype frequencies of rs1801133 (MTHFR) in the 13 selected populations are significantly different. Population structure and F-statistics (Fst) analysis show that the genetic background of the Miao is relatively close to that of Chinese in metropolitan Denver, CO, USA (CHD). CONCLUSIONS Our results help complete the information provided by the pharmacogenomics database of the Miao ethnic group and provide a theoretical basis for safer drug administration, which may be useful for diagnosing and treating diseases in this population.

摘要

背景 基因多态性在决定药物疗效的个体间和种族间差异方面具有潜在的临床作用,但我们尚未发现任何有关少数民族(如苗族)的药物基因组学信息。我们的研究旨在筛查苗族人群中血管活性肠肽(VIP)变体的基因型频率,并确定苗族与世界其他人群之间的差异。材料与方法 在本研究中,我们对从贵州省选取的98名无亲缘关系的健康苗族个体进行了66个从药物基因组知识库(PharmGKB)中选出的非常重要的药物基因(VIP)变体的基因分型,并将我们的数据与其他12个人群进行了比较,其中包括来自国际人类基因组单体型图计划(HapMap)数据集的11个人群和西安汉族人群。结果 使用卡方检验,我们发现苗族人群中维生素D受体(VDR)rs1544410和维生素K环氧化物还原酶复合体亚单位1(VKORC1,rs9934438)变体的等位基因频率与其他种族有很大差异。此外,我们发现13个选定人群中rs1801133(亚甲基四氢叶酸还原酶,MTHFR)的基因型频率有显著差异。群体结构和F统计量(Fst)分析表明,苗族的遗传背景与美国科罗拉多州丹佛市的华人(CHD)相对接近。结论 我们的结果有助于完善苗族药物基因组学数据库提供的信息,并为更安全地给药提供理论依据,这可能有助于该人群疾病的诊断和治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d189/4672675/c03667bbac82/medscimonit-21-3769-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d189/4672675/c03667bbac82/medscimonit-21-3769-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d189/4672675/c03667bbac82/medscimonit-21-3769-g001.jpg

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