Association of ID polymorphism of the CASP8 gene with vibration disease

Abstract

Introduction. The study of the contribution of molecular genetic markers to the formation of occupational diseases is currently an urgent direction in occupational health. It is considered proven that the development and course of occupational diseases depends not only on the occupational risk, but also on the individual characteristics of the body of workers. The study of molecular genetic markers makes it possible to determine the risk groups of early development and unfavorable course of occupational diseases in the post-contact period. The study aims to explore the association of the ID polymorphism of the CASP8 gene with vibration disease, the timing of its development and some biochemical parameters. Materials and methods. We have examined eighty men with vibration disease. Of these: twenty three people with early stages of disease development (work experience under the influence of industrial vibration for less than fifteen years), fifty-seven people with late stages of disease development (work experience under the influence of industrial vibration for more than fifteen years). The scientists have carried DNA extraction from blood by the phenol-chloroform method. In the caspase 8 gene (CASP8) in the promoter we have checked the presence/absence of detention in 6 bp652 AGTAAG ins/del (rs3834129) using PCR.The researchers carried out the frequencies of the genotype and alleles of the I/D polymorphism of the CASP8 gene in the studied groups. Results. The authors found that the genotype ID of the rs3834129 polymorphism of the CASP8 gene is significantly more common in the group of patients with late-onset vibration disease (VD). The researchers found when studying some indicators of connective tissue metabolism, that the level of uronic acids (UC) was significantly lower in carriers of the genotype ID polymorphism of the CASP8 gene compared with carriers of other genotypes. Conclusion. The carriage of the genotype ID of the rs3834129 polymorphism of the CASP8 gene is a marker associated with resistance to the formation of VB in workers of vibration-hazardous professions, as well as with a low level of activity of fibroplastic processes. Limitations. The relatively small size of the studied groups. Ethics. The authors have conducted the study in compliance with the Ethical principles of conducting medical research with the participation of a person as a subject and the rules of clinical practice in the Russian Federation approved by Order of the Ministry of Health of the Russian Federation No. 266 of 19.06.2003. The conclusion of the Ethical Committee at the Federal State Budgetary Educational Institution of the Ministry of Health of the Russian Federation (Protocol No. 65 of 27.05.2014) and informed consent of patients was received.