Genotype and phenotype polymorphisms of NAT2 and CYP2E1 in the Han Chinese pediatric population
LIU Fang, MIAO Qing, JIAO Wei-Wei, XIAO Jing, SUN Lin, SHEN Chen, WU Xi-Rong, SHEN Dan, YIN Qing-Qin, SHEN A-Dong
National Key Laboratory of Major Diseases in Children and Key Discipline of Pediatrics (Capital Medical University); Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China. shenad@sohu.com
Abstract：OBJECTIVE: N-acetyltransferase 2 (NAT2) and cytochrome P450 2EI (CYP2E1) play a crucial role in the drug metabolic process. The aim of this study was to understand the genotype and phenotype polymorphisms of NAT2 and CYP2E1 in the Han Chinese pediatric population in order to provide a theoretical basis for individualized drug treatment. METHODS: A total of 341 (211 males and 130 females) randomly sampled Han Chinese children, aged from 2 months to 14 years, were enrolled in this study. Genotyping was carried out by PCR method, and metabolic phenotypes were identified. RESULTS: In this study population, wild genotype was found as a major genotype in seven SNPs of NAT2, rs1801279, rs1041983, rs1801280, rs1799929, rs1799930, rs1208 and rs1799931. The frequency of NAT2 fast metabolism was highest (61.3%), followed by middle to slow metabolism (34.1%). Wild genotype also predominated in the four SNPs of CYP2E1 (rs2031920, rs3813867, rs6413432 and rs72559720) named as CYP2E1*5, *6 and *2, with a frequency of 61.3%, 60.1% and 99.4% respectively. As the relationship between CYP2E1 genotype and phenotype was unknown, phenotyping of CYP2E1 was not done. CONCLUSIONS: The important SNPs of NAT2 and CYP2E1 are predominantly wild genotype in the Han Chinese pediatric population. Fast metabolic phenotype predominates in important SNPs of NAT2.
LIU Fang,MIAO Qing,JIAO Wei-Wei et al. Genotype and phenotype polymorphisms of NAT2 and CYP2E1 in the Han Chinese pediatric population[J]. CJCP, 2012, 14(5): 353-358.
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