Molecular-epidemiology approach was used to investigate the influence of the deletion polymorphism of glutathione-S-transferases (GST) M1 and T1 on the risk for the development of asbestosis. We reported on the protective effect of GSTT1 gene deletion on the risk for asbestosis. Our study included 262 patients with asbestosis and 265 matched controls that did not develop asbestos-related diseases. They were selected from a cohort of 2080 workers, occupationally exposed to asbestos and it is the largest analysis of this kind performed so far worldwide.
COBISS.SI-ID: 22939353
Genetic factors play an important role in the development of asbestosis. A large superfamily of enzymes - glutathione S-transferases (GSTs) participates in the detoxification of xenobiotics and toxic products of reactive oxygen species (ROS). In this scientific article, we were the first to show that GSTP1 genotype coding for an enzyme with high catalytic activity significantly increases the risk of developing asbestosis. This article has already been cited in the most comprehensive review article on the current knowledge of genetic factors and the risk for asbestosis.
COBISS.SI-ID: 23762649
Asbestos fibres trigger the production of reactive oxygen species (ROS) involved in the pathogenesis of asbestosis. As catalase (CAT) represents an important part of the enzymatic defence against ROS, we investigated if CAT-262C>T genetic polymorphism influences the risk of asbestosis. We observed a slightly elevated risk of asbestosis that increased after the involvement of cumulative asbestos exposure in subjects with the CAT-262TT genotype. These results contribute to the understanding of interactions between genetic and environmental factors that may modify the risk of asbestosis.
COBISS.SI-ID: 5490393
Manganese and extracellular superoxide dismutases (SOD2 and SOD3) are part of the enzymatic defense against reactive oxygen species, which are involved in the pathogenesis of asbestosis. This study investigates whether SOD2Ala -9Val and SOD3 Arg213Gly genetic polymorphisms represent risk factors for asbestosis in workers exposed to asbestos. The finding that homozygous SOD2 -9Ala/Ala genotype increases the risk for asbestosis indicates that, in addition to asbestos exposure, genetic factors may also have a significant influence on the development of asbestosis.
COBISS.SI-ID: 25780953
In the introductory invited lecture at the international meeting Pharmacogenetics in clinical practice, organized as a satellite meeting to the International Conference on Cytochromes P450, we presented genetic factors that influence disease susceptibility upon environmental exposure to xenobiotics and lead to variability in drug response. There is increasing evidence, supported also by our studies, that genotyping for polymorphic drug metabolizing enzymes has the potential to improve drug therapy and reduce adverse events.
COBISS.SI-ID: 234085632