Zhang Tingting, Li Qiuyan, Dong Bonan, Liang Xiao, Jia Mansha, Bai Jing, Yu Jingcui, Fu Songbin
Laboratory of Medical Genetics, Harbin Medical University, Harbin, People's Republic of China.
Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, People's Republic of China.
Pharmgenomics Pers Med. 2021 Nov 30;14:1537-1547. doi: 10.2147/PGPM.S339854. eCollection 2021.
Genetic variability in genes encoding drug-metabolizing enzymes may contribute to the heterogeneity of drug responses in different populations. Extensive research in pharmacogenomics in major populations around the world provides us with a great deal of information about drug-related genetic polymorphisms.
The purpose of this study was to detect the genetic variation of drug-metabolism-related genes in the five ethnic minorities Daur, Hezhen, Ewenki, Mongolian and Manchu in China, and to analyze the distribution differences among ethnic groups.
We genotyped 32 SNPs of drug metabolism genes in 882 healthy Chinese volunteers from five ethnic groups. The genotype frequency and allele frequency of the five ethnic groups were calculated, and the different variants among the five ethnic groups were compared by chi-square test. Genetic parameters were analyzed using Popgene software. The genetic structure of five ethnic minorities was analyzed by principal component analysis, and compared with 26 populations.
We found that SNPs of genes related to drug metabolism existed diversity in different populations. Among them, rs8192766 and rs9419082 in showed statistical differences between Daur and Manchu, and rs1801280 showed statistical differences between Hezhen and Mongolian. In addition, the five populations we studied had the smallest differences with EAS populations. There was haplotype diversity in and genes in the five ethnic minorities, and these haplotype polymorphisms were related to the use of corresponding drug doses. Cluster analysis shows that the five ethnic minorities in Heilongjiang Province are clustered together with the EAS populations.
These results suggest that understanding the diversity of drug-related genetic markers is critical for individualized drug gene therapy programs in ethnic minorities in China as well as in populations highly mixed with these ethnic groups.
编码药物代谢酶的基因中的遗传变异性可能导致不同人群中药物反应的异质性。全球主要人群的药物基因组学广泛研究为我们提供了大量有关药物相关基因多态性的信息。
本研究旨在检测中国达斡尔、赫哲、鄂温克、蒙古和满五个少数民族中药物代谢相关基因的遗传变异，并分析各民族之间的分布差异。
我们对来自五个民族的882名健康中国志愿者的药物代谢基因的32个单核苷酸多态性进行了基因分型。计算了五个民族的基因型频率和等位基因频率，并通过卡方检验比较了五个民族之间的不同变异。使用Popgene软件分析遗传参数。通过主成分分析分析了五个少数民族的遗传结构，并与26个群体进行了比较。
我们发现与药物代谢相关的基因的单核苷酸多态性在不同人群中存在多样性。其中，rs8192766和rs9419082在达斡尔族和满族之间存在统计学差异，rs1801280在赫哲族和蒙古族之间存在统计学差异。此外,我们研究的五个人群与东亚人群的差异最小。五个少数民族的和基因存在单倍型多样性，这些单倍型多态性与相应药物剂量的使用有关。聚类分析表明，黑龙江省的五个少数民族与东亚人群聚类在一起。
这些结果表明，了解药物相关遗传标记的多样性对于中国少数民族以及与这些民族高度混合的人群的个体化药物基因治疗方案至关重要。
