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Genetic polymorphism of cytochrome P4502E1 in a Swedish population
Author(s) -
Persson Irene,
Johansson Inger,
Bergung Helene,
Dahl Marja-Liisa,
Seidegård Janeric,
Rylander Ragnar,
Rannug Agneta,
Högberg Johan,
Sundberg Magnus Ingelman
Publication year - 1993
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(93)80547-8
Subject(s) - allele , lung cancer , genetics , biology , intron , restriction fragment length polymorphism , cyp2e1 , lung cancer susceptibility , allele frequency , genotype , gene , microbiology and biotechnology , medicine , single nucleotide polymorphism , in vitro , microsome
Genetic polymorphism of CYP2E1 was investigated among 195 Swedish patients with lung cancer and 206 controls. Three different polymorphic sites were found, all in introns, using RFLP and the restriction enzymes Dra I, Rsa I and Taq I. The frequencies of the rare alleles were 0.08–0.18 and much lower than previously described among Japanese. No significant difference in distribution of the polymorphic alleles between controls and lung cancer patients was evident, in contrast to results of a previous Japanese study. However, examination of a polymorphic site in the 5'‐flanking region, within a putative binding motif for the hepatic transcription factor HNF‐1, revealed a significantly less frequent distribution of the mutated allele (c 2 ) among the lung cancer patients as compared to controls. It is concluded that major interethnic differences exist in the genetic polymorphism of CYP2E1 and that people carrying the c 2 allele might be at lower risk for developing lung cancer.