Aim: To systematically investigate the genetic polymorphisms of the CYP3A4 gene in a Han Chinese population.
Materials & methods: The promoter and exons of CYP3A4 gene in 1114 unrelated, healthy Han Chinese subjects were amplified and genotyped by direct sequencing.
Results: In total, five previously reported alleles (*1G, *4, *5, *18B and *23) were detected, of which one allele (*23) was reported for the first time in Han Chinese population. Additionally, seven novel exonic variants were also identified and designated as new alleles CYP3A4*28-*34.
Conclusion: This study provides the most comprehensive data of CYP3A4 polymorphisms in Han Chinese population and detects the largest number of novel CYP3A4 alleles in one ethnic group.
Keywords: CYP3A4; Han Chinese population; genetic polymorphism; novel allelic variants.