Polymorphisms of human Ah receptor gene are not involved in lung cancer

Pharmacogenetics. 1995 Jun;5(3):151-8. doi: 10.1097/00008571-199506000-00003.

Abstract

The Ah receptor (Ahr) is a ligand-dependent transcription factor that positively regulates inducible expression of the CYP1A1 gene. Based on the sequence information of the human Ahr and the intron-exon junctions of the mouse counterpart, an analysis of single-strand conformational polymorphism (SSCP) was carried out to detect subtle base differences in the coding region of the gene among individuals. We found that the Ahr protein has at least two forms of variants in a Japanese gene pool, and that these variants can be ascribed to one amino acid replacement of Arg by Lys at codon 554. The frequencies of Arg-coded and Lys-coded alleles were 0.57 and 0.43, respectively. We found, however, that this germ line polymorphism of the Ahr gene did not show a significant association with aryl hydrocarbon hydroxylase (AHH) inducibility nor with lung cancer incidence.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Aryl Hydrocarbon Hydroxylases / biosynthesis
  • Base Sequence
  • DNA Primers
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Lung Neoplasms / enzymology
  • Lung Neoplasms / genetics*
  • Lymphocytes / enzymology
  • Mice
  • Molecular Sequence Data
  • Polymorphism, Single-Stranded Conformational
  • Receptors, Aryl Hydrocarbon / genetics*

Substances

  • DNA Primers
  • Receptors, Aryl Hydrocarbon
  • Aryl Hydrocarbon Hydroxylases