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      https://www.ias.ac.in/article/fulltext/jgen/096/02/0219-0225

    • Keywords

       

      CYP3A4; genetic polymorphism; genotype; phenotype; Tibetan.

    • Abstract

       

      The enzymatic activity of CYP3A4 results in broad interindividual variability in response to certain pharmacotherapies. The present study aimed to screen Tibetan volunteers for CYP3A4 genetic polymorphisms. Previous research has focussed on Han Chinese patients, while little is known about the genetic variation of CYP3A4 in the Tibetan populations. Here, we adopted DNA sequencing to investigate the promoter, exons and surrounding introns, and 3'-untranslated region of the CYP3A4 gene in 96 unrelated healthy Tibetan individuals.We identified 20 different CYP3A4 polymorphisms in the Tibetan population, including two novel variants (21824 A>G and 15580 G>C). In addition, we also determined the allele frequencies of CYP3A4*1Aand CYP3A4*1H were 82.29% and 28.13%, respectively. CYP3A4*1P and *1G were relatively rare with frequencies of only 1.04% and 0.52%, respectively. Our results provide information on CYP3A4 polymorphisms in Tibetan individuals which may help to optimize pharmacotherapy effectiveness by providing personalized medicine to this ethnic group.

    • Author Affiliations

       

      LIJUN LIU1 2 3 YU CHANG4 SHULI DU5 XUGANG SHI5 HUA YANG5 LONGLI KANG1 2 3 TIANBO JIN1 2 3 5 DONGYA YUAN1 2 3 YONGJUN HE1 2 3

      1. Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, Xizang Minzu University, Xianyang, Shaanxi 712082, People’s Republic of China
      2. Key Laboratory for Basic life science Research of Tibet autonomous region, Xizang Minzu University, Xianyang, Shaanxi 712082, People’s Republic of China
      3. Key Laboratory of High Altitude Environment and Gene Related to Disease of Tibet Ministry of Education, Xizang Minzu University, Xianyang 712082, Shaanxi, People’s Republic of China
      4. Department of pharmacy, Hong-Hui Hospital, Xi’an Jiaotong University College of Medicine, Xi’an 710054, Shaanxi, People’s Republic of China
      5. Xi’an Tiangen Precision Medical Institute, Xi’an, Shaanxi 710075, People’s Republic of China
    • Dates

       
  • Journal of Genetics | News

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      Posted on July 25, 2019

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