He Xue, He Na, Ren Lisong, Ouyang Yongri, Zhang Ning, Ma Yini, Yuan Dongya, Kang Longli, Jin Tianbo
Key Laboratory for Basic life science Research of Tibet autonomous region School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.
Key laboratory for molecular genetic mechanisms and intervention research on high altitude disease of Tibet autonomous region, School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.
BMC Genomics. 2016 May 26;17:409. doi: 10.1186/s12864-016-2719-x.
This study aimed to investigate genetic polymorphisms of CYP2D6 among healthy Uygur individuals. Genetic polymorphisms of CYP2D6 could greatly affect CYP2D6 activity and lead to differences among individuals in drug efficacy or side effects. To investigate genetic polymorphisms of CYP2D6 in the Uygur population, we directly sequenced the whole gene in 96 unrelated, healthy Uygur volunteers from the Xinjiang Uygur Autonomous Region and screened for genetic variants in the promoter, intron, exons, and 3'UTR.
We detected 62 genetic polymorphisms of CYP2D6, 16 of which were novel SNP with three novel non-synonymous mutations detected for the first time. The allelic frequencies of CYP2D6*1, *10, *39, and 48 were 0.542, 0.156, 0.068, 0.229, and 0.073, respectively. The frequency of CYP2D61/*10 which decreased CYP2D6 enzyme activity was 31.3 %.
Our results provided basic information about CYP2D6 polymorphisms, suggested that the enzymatic activities of CYP2D6 might be different within the Uygur ethnic group, and provide a basis for safer drug administration and better therapeutic treatment of Uygur individuals.
本研究旨在调查健康维吾尔族个体中CYP2D6的基因多态性。CYP2D6的基因多态性可极大影响CYP2D6活性，并导致个体在药物疗效或副作用方面存在差异。为调查维吾尔族人群中CYP2D6的基因多态性，我们对来自新疆维吾尔自治区的96名无亲缘关系的健康维吾尔族志愿者的整个基因进行了直接测序，并在启动子、内含子、外显子和3'非翻译区筛选基因变异。
我们检测到62个CYP2D6的基因多态性，其中16个为新的单核苷酸多态性，首次检测到3个新的非同义突变。CYP2D6*1、10、39和48的等位基因频率分别为0.542、0.156、0.068、0.229和0.073。降低CYP2D6酶活性的CYP2D61/*10频率为31.3%。
我们的结果提供了有关CYP2D6多态性的基础信息，表明维吾尔族群体中CYP2D6的酶活性可能存在差异，并为维吾尔族个体更安全的药物给药和更好的治疗提供了依据。
