title: Systematic screening for polymorphisms in the CYP3A4 gene in the Chinese population.
abstract: OBJECTIVE
  Cytochrome P450 3A4 (CYP3A4) is a major CYP enzyme in the liver and intestine. It is involved in the metabolism of over 50% of all drugs currently in use. The present study was designed to determine the genetic basis of CYP3A4 variability.
  
  
  METHODS
  Single nucleotide polymorphism (SNP) analysis of the CYP3A4 gene was performed on 60 healthy Chinese subjects consisting of 20 Han, 30 She and ten Dong subjects, using direct sequencing. Linkage disequilibrium, haplotype inference and Hardy-Weinberg equilibrium were also determined for these samples.
  
  
  RESULTS
  A total of 20 SNPs were found in the CYP3A4 gene, including 11 known SNPs and nine novel SNPs. The known SNPs detected in our study were CYP3A4*1B, CYP3A4*1G, CYP3A4*10, CYP3A4*13, CYP3A4*14, CYP3A4*15, CYP3A4*17, CYP3A4*18, rs3091339, rs3091430 and rs28371761, and the novel SNPs were -658 A-->C, G27A (E10K), T48A, G14284A (G167D), A15623G (N191D), C15635A (L196I), T15656C (F203L), G14199A (intron 5) and C15566T (intron 6). The allelic frequencies found in our sample varied from 1-37%. The novel SNPs detected in the CYP3A4 gene suggest that the Chinese population has different patterns of allele frequency compared with other populations.
  
  
  CONCLUSIONS
  Several SNPs were detected in the CYP3A4 gene. The study of genetic variants in CYP3A4 may have an important significance for the understanding of genotype and phenotype relationships.
authors.affiliation: Bio-X Center, Shanghai JiaoTong University, 1954 Huashan Road, Shanghai 200030, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Du
authors.forename: Qinghe
authors.initials: Q
authors.lastname: Xing
authors.forename: Lingyun
authors.initials: L
authors.lastname: Xu
authors.forename: Mingsheng
authors.initials: M
authors.lastname: Xu
authors.forename: Anli
authors.initials: A
authors.lastname: Shu
authors.forename: Yongyong
authors.initials: Y
authors.lastname: Shi
authors.forename: Lan
authors.initials: L
authors.lastname: Yu
authors.forename: Aiping
authors.initials: A
authors.lastname: Zhang
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Hongsheng
authors.initials: H
authors.lastname: Wang
authors.forename: Xingwang
authors.initials: X
authors.lastname: Li
authors.forename: Guoyin
authors.initials: G
authors.lastname: Feng
authors.forename: Lin
authors.initials: L
authors.lastname: He
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D051544:Cytochrome P-450 CYP3A; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010597:Pharmacogenetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers; D003577:Cytochrome P-450 Enzyme System; D051544:Cytochrome P-450 CYP3A; C510163:CYP3A4 protein, human