Analysis of the rs6265 polymorphism of the BDNF gene distribution in patients with vibration disease

Background. The rs6265 polymorphism of the BDNF gene is one of the informative molecular genetic markers, which is associated with a wide range of neurological disorders. However, there is no recent information concerning the role of this polymorphism in the pathogenesis of vibration disease (VD).

Aim: to estimate the assessment of the BDNF gene rs6265 alleles and genotypes frequencies in patients with VD, their distribution in groups of patients depending on the type of vibration exposure and comparison with data from association studies of other authors.

Methods. The study included 140 men with VB (83 patients with VB formed from combined effect of general and local vibration, 57 – from local vibration) and 40 men – the comparison group. The polymorphic locus rs6265 of the BDNF gene was typed by polymerase chain reaction with real-time detection of the results on a CFX96 (Bio-Rad, USA).

Results. The frequencies of genotypes and alleles of the polymorphic locus rs6265 of the BDNF gene in patients with VB were determined for the first time. As for statistics, it did not differ significantly from those in the comparison group as well as in the groups of residents of the European part of Russia, Siberian Federal District, Russians living in Tomsk and Tomsk Region, in the Northwestern, Southern and North Caucasian Federal Districts. No distinctive features in patients with VB depending on different types of vibration were revealed. At the same time, differences in the frequency of carrying the minor allele in the study sample and other ethnic populations were registered, that is characterized by a higher frequency of minor allele in the East Asian and South Asian populations and its decrease in the African population.

Conclusion. The obtained results are important and can be used for studies both with clinical manifestations of the disease and with serum BDNF concentration. 

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