Features of the immune and genetic profile in children with musculoskeletal pathology under exposure to biocontamination with aluminum compounds

Introduction. The musculoskeletal (MS) system stores heavy metals like aluminum, potentially causing bone defects in polluted environments.

The purpose of the study is to evaluate the immune and genetic profile in children with MS diseases under exposure to aluminum biocontamination.

Materials and methods. One hundred sixty six children from an aluminum province were selected to make up observation with diagnosis as 66, M85.8 «Other specified disorders of bone density and structure») and comparison (100 healthy) groups. The following iondices were estimated: CD19⁺ (cytofluorometry), IgG to aluminum (allergosorbent testing), osteocalcin (EIA), IgG, IgM, IgA (Mancini). PCR determined TLR4 A8595G (rs1927911) and VDR C>T (rs2228570) polymorphisms.

Results. The aluminum content in blood in examined children with MS diseases was 0.0317 ± 0.0051 mg/dm³, which is 2.66 times higher than in the comparison group. IgG to aluminum in 74.5% of thr children exceeded the reference range. N-osteocalcin was reduced by 1.13 times. CD19⁺ hyperexpression (2.36 times), IgG increase by 1.2 times and IgA deficiency by 1.32 times were established. In the observation group against the comparison group, a significant increase was established in the frequency both of the variant allele G TLR4 and the variant allele C and the CC genotype VDR, by by 1.9 times and 1.4–2.6 times accordingly.

Research limitations. The study sample was limited to children aged 3–6 years living in a zone exposed to aluminum production emissions; for the observation group, diagnosis M85.8.

Conclusion. We established activation in the B-lymphocytes→reagins system, CD19⁺→IgG→specific IgG to aluminum compartments, which may indicate that immunity participoates in the formation of MS pathology. The presence of variant alleles and genotypes of candidate genes VDR C>T (rs2228570), TLR4 A8595G (rs1927911) increases the risk of metabolic and immune disorders associated with bone tissue by 1.2–1.6 times.

Compliance with ethical standards: The study was approved by the Ethics Committee of the Federal Scientific Center for Medical and Preventive Technologies for Population Health Risk Management (protocol No. 2 dated March 13, 2024). Parents or guardians of all children signed voluntary informed consent to participate in the study.

Contribution of the authors:
Zaitseva N.V. — study concept and design, writing the text, editing;
Shirinkina A.S. — collecting and processing material, writing text, editing, compiling a list of references, statistical data processing;
Dolgikh O.V — study concept and design, writing the text, editing;
Kazakova O.A. — data analysis, writing the text.
All authors have approved of the final version of the article and bear full responsibility for the integrity of all its parts.

Funding. The study was not sponsored.

Competing interests. The authors declare no competing interests.

Received: March 17, 2025 / Accepted: June 24, 2025 / Published: September 12, 2025

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