Here we report that colorectal cancer patients show a markedly higher frequency (3-fold) of wild-type NAT2*4 allele homozygotes than the control population.
However, a marked difference in NAT2*4/NAT2*4 genotype frequency associated with the patients gender was observed pointing to a male-specific effect of this genotype as a risk factor in colon cancer.
The arylamine-N-acetyltransferase (E.C. 22.214.171.124.) NAT2, a phase II detoxification enzyme, has been implicated in procarcinogen activation, namely from food contained arylamines, cigarette smoking, as well as environmental amines of various types.
NAT2 is encoded by a polymorphic gene presenting several allelic variants encoding partially inactive enzymes expressed in human liver and colon.
Epidemiological studies based on phenotype determination have long indicated the importance of the NAT2 active phenotype as a susceptibility factor in colorectal cancer.
In the present study we investigated the NAT2 allelic frequencies and genotype distribution in a group of 114 unrelated colorectal cancer patients, in parallel with 201 healthy Portuguese subjects.
We first demonstrate that the frequency of the wild-type NAT2*4 allele in the Portuguese sample population (23.4%) does not significantly differ from the values described for other Europeans. (...)
Mots-clés Pascal : Fréquence génique, Allèle, Facteur risque, Génotype, Génétique population, Tumeur maligne, Côlon, Rectum, Homme, Epidémiologie moléculaire, Portugal, Europe, Alimentation, Arylamine N-acetyltransferase, Acyltransferases, Transferases, Enzyme, Prédisposition, Appareil digestif pathologie, Intestin pathologie, Côlon pathologie, Rectum pathologie, Gène NAT2
Mots-clés Pascal anglais : Gene frequency, Allele, Risk factor, Genotype, Population genetics, Malignant tumor, Colon, Rectum, Human, Molecular epidemiology, Portugal, Europe, Feeding, Arylamine N-acetyltransferase, Acyltransferases, Transferases, Enzyme, Predisposition, Digestive diseases, Intestinal disease, Colonic disease, Rectal disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0130937
Code Inist : 002B13B01. Création : 22/06/1998.