Association of the Ala16Val polymorphism in superoxide dismutase 2 gene (rs4880) with nerve structure changes in patients with vibration syndrome

Introduction. Previously, data were obtained on the association between genotypes of polymorphic variants of glutathione-S-transferases (GSTs) genes with changes in nerve structure of the upper limbs in patients with vibration syndrome (VS). This suggests the existence of similar relationships for polymorphisms of genes encoding the activity of other antioxidant enzymes, mitochondrial superoxide dismutase (SOD2) in particular.

The aim of the study was to establish associations between the polymorphic variant of SOD2 gene and changes in nerve structure in VS patients which is caused by exposure to various vibration types.

Materials and methods. The polymorphic variant Ala16Val of SOD2 gene (rs4880) in two hundred forty seven: VS patients (caused by exposure to hand-arm vibration (HAVS) (n = 94) and combined vibration (hand-arm and whole body vibration – VScomb (n = 65)), and control individuals (n = 88) were studied by RT-PCR method. The structure of the median and ulnar nerves of the upper limbs was assessed by using ultrasonography and the results were expressed as the cross-sectional area (CSA).

Results. A significant role of the Ala16Val polymorphic variant of SOD2 gene was established in the development of nerve structural changes of upper limbs in VS patients. The most pronounced changes were revealed in carriers of all rs4880 genotypes (CC, CT, and TT) in HAVS patients relative to the control, which was manifested in greater CSAmax of the median, ulnar, and average peripheral nerves CSA (p = 0.005, p = 0.013, and p = 0.004, respectively). Carriage of the TT genotype was accompanied by greater values ​​of all the above parameters compared to the control both in HAVS patients and patients with combined vibration exposure.

Limitations. The number of examined individuals, the lack of analysis of electrophysiological changes.

Conclusion. The TT genotype carriage of the polymorphic variant rs4880 of SOD2 gene is associated with an increase in the nerve structure parameters of upper limbs both in HAVS patients and in patients of combined group. This may be due to a decrease in SOD2 activity, accompanied by increased oxidative damage. 

Compliance with ethical standards. The study was approved by the Biomedical Ethics Committee of the East Siberian Institute of Medical and Ecological Research (Protocol No. 5 of 03/21/2023). All participants gave informed voluntary written consent to participate in the study.

Contribution:
Chernyak Yu.I. – concept and study design, sample collection, implementation of methods and data analysis, final statistical data analysis, text writing and editing;
Zueva Ya.I. – study design, sample collection, implementation of methods and data analysis, final statistical data analysis, text writing and editing;
Zaguzina A.R. – sample collection, statistical data analysis.
All authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version.

Funding. The study was supported within a framework of State Assignment for East Siberian Institute of Medical and Ecological Research (No. 123032000007-8).

Conflict of interest. The authors declare no conflict of interest.

Received: July 30, 2026 / Accepted: September 15, 2026 / Published: October 20, 2026