Molecular analysis of the CYP2F1 gene: identification of a frequent non-functional allelic variant

Mutat Res. 2007 Apr 1;617(1-2):79-89. doi: 10.1016/j.mrfmmm.2007.01.007. Epub 2007 Jan 25.


The CYP2F1 is a human cytochrome P450 that is selectively expressed in lung tissue and involved in the metabolism of various pneumotoxicants with potential carcinogenic effects. In the present study, we report the first systematic investigation of the genetic polymorphism of this enzyme. We analyzed the nucleotidic sequence of the CYP2F1 gene in DNA samples from 90 French Caucasians consisting in 44 patients with lung cancer and 46 control individuals, using single-strand conformation polymorphism analysis of PCR products (PCR-SSCP). We identified 24 novel mutations distributed in the promoter region of the gene, as well as in the coding regions and their flanking intronic sequences. In addition to the wild-type CYP2F1*1 allele, seven allelic variant, CYP2F1*2A, *2B, *3, *4, *5A, *5B and *6, were characterized. The most frequent allelic variant, CYP2F1*2A (25.6%), harbors a combination of 9 mutations, including 2 missense mutations (Asp218Asn and Gln266His) and a 1-bp insertion (c.14_15insC) that creates a premature stop codon in exon 2, probably leading to the synthesis of a severely truncated protein with no catalytic activity. The identification of around 7% of homozygotes for the frameshift mutation in our Caucasian population suggests the existence of an interindividual variation of the CYP2F1 activity and, consequently, the possibility of interindividual differences in the toxic response to some pneumotoxicants and in the susceptibility to certain chemically induced diseases. However, our preliminary results did not show any evidence that the CYP2F1 genetic polymorphism has implications in the pathogenesis of lung cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Cytochrome P-450 Enzyme System / genetics*
  • Cytochrome P450 Family 2
  • DNA Mutational Analysis
  • DNA Primers
  • Genetic Variation*
  • Genotype
  • Humans
  • Lung / metabolism
  • Lung / pathology
  • Lung Neoplasms / genetics*
  • Mutation, Missense
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • Polymorphism, Single-Stranded Conformational
  • Sequence Deletion


  • DNA Primers
  • Cytochrome P-450 Enzyme System
  • CYP2F1 protein, human
  • Cytochrome P450 Family 2