Genetisch polymorfisme en chronische toxische encefalopathie

Genetic polymorphisms occur in several enzymes which are involved in the biotransformation of xenobiotics. Genetic polymorphisms result in changed enzyme activities and therefore in higher risk of disease after occupational exposure. In this study, the effect of polymorphism in two cytochrome P450 and two glutathione S-transferase isoenzymes on the risk of chronic toxic encephalopathy was investigated. Patients and controls were recruited in the Netherlands Centre of Occupational Diseases. Exposure to organic solvents was estimated by means of thorough interviewing. From both patients and controls GSTM1 and GSTT1 null genotypes, Dra 1 en Rsa 1 mutations in the cytochrome P450 2E1 gene and the Ile/Val mutation in the cytochrome P450 1A1-gene were determined using PCR. A tendency towards increasing odds ratios for the Dra 1 mutation of the cytochrome P450 2E1 gene (odds ratio 6.2 , 0.7 - 91.2) and the GSTM1 null genotype (odds ratio 1.7 , 0.4 - 6.9) was found, although the study population under investigation so far is not large enough to draw definite conclusions.