CYP2F1 genetic polymorphism: identification of interethnic variations

Xenobiotica. 2007 Dec;37(12):1433-8. doi: 10.1080/00498250701644403.


Since human cytochrome P450 2F1 (CYP2F1) is predominantly expressed in lung tissue and is involved in the metabolism of various pneumotoxicants with potential carcinogenic effects, variations in the nucleotidic sequence of its gene may contribute to interindividual and interethnic differences in the susceptibility to lung tumorigenesis. The aim of the current study was to compare the frequency of a previously reported frameshift mutation, namely c.14_15insC, responsible for the synthesis of a severely truncated protein, between several populations of different ethnic origins. The frequencies of this polymorphism were 26.1, 51.6, 42.7 and 22.9% in French, Gabonese, Senegalese, and Tunisian population samples, respectively, thereby representing a substantial inter ethnic variation in the CYP2F1 gene. These findings provide data for further studies that investigate the potential association of CYP2F1 haplotypes with an incidence of lung cancer genesis in respect of ethnicity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cytochrome P-450 Enzyme System / biosynthesis
  • Cytochrome P-450 Enzyme System / genetics*
  • Cytochrome P450 Family 2
  • Ethnic Groups / genetics*
  • Female
  • Genetic Predisposition to Disease / ethnology
  • Haplotypes
  • Humans
  • Lung / enzymology
  • Lung Neoplasms / enzymology
  • Lung Neoplasms / ethnology
  • Lung Neoplasms / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Restriction Fragment Length*


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