Cao Peilong, Zhao Qian, Shao Yuan, Yang Hua, Jin Tianbo, Li Baiya, Li Honghui
Department of Pathology.
Department of Otorhinolaryngology, The First Affiliated Hospital of Xi'an Jiaotong University.
Medicine (Baltimore). 2018 Oct;97(40):e12579. doi: 10.1097/MD.0000000000012579.
As an important metabolic enzyme, it is necessary to investigate the genetic polymorphisms of CYP2J2 among healthy Tibetan individuals. Genetic polymorphisms of CYP2J2 could affect enzyme activity and lead to differences among individual responses to drugs.We sequenced the whole gene of CYP2J2 in 100 unrelated, healthy Tibetan volunteers from the Tibet Autonomous Region and screened for genetic variants in the promoters, introns, exons, and the 3'-UTR regions.We detected 4 novel genetic polymorphisms of the CYP2J2 gene. The allelic frequencies of CYP2D6*1 and 7 were 0.955 and 0.045, respectively. CYP2D61/*7 decreased the activity of CYP2J2 and was expressed in 9% of the sample population.Our results provided basic data about CYP2J2 polymorphisms in a Tibetan population, suggested that the enzymatic activities of CYP2J2 might be different within the ethnic group, and offered a theoretical basis for individualized medical treatment and drug genomics studies.
作为一种重要的代谢酶，有必要对健康藏族个体中的CYP2J2基因多态性进行研究。CYP2J2基因多态性可能会影响酶的活性，并导致个体对药物的反应存在差异。我们对来自西藏自治区的100名无亲缘关系的健康藏族志愿者的CYP2J2全基因进行了测序，并在启动子、内含子、外显子和3'-UTR区域筛选基因变异。我们检测到CYP2J2基因的4种新的基因多态性。CYP2D61和7的等位基因频率分别为0.955和0.045。CYP2D6*1/*7降低了CYP2J2的活性，在9%的样本人群中表达。我们的研究结果提供了藏族人群中CYP2J2多态性的基础数据，表明该族群内CYP2J2的酶活性可能存在差异，并为个体化医疗和药物基因组学研究提供了理论依据。
