Abstract
Background. Spinal diseases cause significant disability, with genetic factors influencing up to 70 % of cases. This study purposed to examine the association of polymorphisms of COL1A1rs1800012, COL2A1rs2276454, COL2A1rs1793953 (collagen genes), and VDRrs2228570 with L4-L5, L5-S1, C5-C7 with intervertebral disc degeneration among ethnic Ukrainians. Materials and methods. The study included 90 individuals with L5-S1 disc degeneration, 50 — with L4-L5 degeneration, 30 — with C5-C7, and 66 controls without disc degeneration. Applied Biosystems (USA) kits were used for genotyping. Statistical analysis was performed using SNPStats. Results. There was an association between the C/C genotype and L5-S1 disc degeneration in men (odd ratio (OR) was 2.255, 95% confidence interval (CI): 1.089–4.670; χ2 = 4.905; p = 0.027), whereas the C/T genotype may have a protective effect (OR = 0.418, 95% CІ: 0.217–0.802; χ2 = 6.689, p = 0.009). The C/T genotype may also have protective significance for C5-C7 disc degeneration in men: its occurrence was higher among men in the control group compared to women (OR = 3.85, 95% CІ: 1.086–13.648; χ2 = 4.67; p = 0.031). The G/A COL2A1rs2276454 variant may have a protective effect on the L5-S1 disc (OR = 3.50, 95% CІ: 1.26–9.72; χ2 = 6.02; p = 0.015). The pair of alleles COL2A1rs2276454/COL2A1rs1793953 were linked to degenerative changes of the L4-L5 disc in the case group (p = 0.001); COL1A1rs1800012/VDRrs2228570 and COL2A1rs1793953/VDRrs2228570 were linked to degenerative changes in the C5-C7 disc. Conclusions. The C/C VDRrs2228570 genotype in men was associated with L5-S1 intervertebral disc degeneration. The T/C VDRrs2228570 genotype may have a protective significance for men with L5-S1 and C5-C7 degeneration. The COL2A1rs2276454 variant may have a protective effect against the development of L5-S1 degenerative changes in men. The allele pairs COL1A1rs1800012/VDRrs2228570, COL2A1rs1793953/VDRrs2228570, and COL2A1rs2276454/COL2A1rs1793953 were associated with C5-C7 degeneration, while the COL2A1rs2276454/COL2A1rs1793953 pair were associated with L4-L5 degeneration.
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