As a global issue, research indicates that 80% of the population will experience Lumbar disc herniation (LDH) at least once in their lifetime. LDH is a complex spinal disease, with multiple genetic polymorphisms being related to its risk. Nevertheless, the role of LINC-PINT polymorphisms in LDH risk has remained unknown. Therefore, Wu et al conducted a study to investigate the association between LINC-PINT polymorphisms and LDH risk.
DNA was extracted from 504 LDH patients and 500 healthy controls. Three single nucleotide polymorphisms (SNPs) in LINC-PINT were selected and genotyped using Agena MassARRAY. The authors used logistic regression analysis to calculate odds ratios (ORs) and 95% confidence intervals (95% CIs) under multiple genetic models to evaluate the association between LINC-PINT polymorphisms and LDH risk. Haploview 4.2 and SNPStats software were used to evaluate the linkage strength of SNPs and the correlation between haplotypes and LDH risk. The impact of SNP-SNP interactions on LDH risk was analyzed using multi-factor dimensionality reduction (MDR).
• Results showed that rs157916 (G vs. A: OR=1.23, FDR-p=0.029) and rs7801029 (G vs. C: OR=1.39, FDR-p=0.006; GG vs. CC: OR=2.34, FDR-p=0.038; recessive: OR=2.13, FDR-p=0.045; additive: OR=1.39, FDR-p=0.030) were associated with an increased risk of LDH.
• Furthermore, LINC-PINT rs157916 and rs780129 were found to be significantly associated with LDH risk in males.
• The “GGG” haplotype was associated with increased LDH risk (OR=1.41, FDR-p=0.006).
• MDR analysis indicated that the interaction between rs7801029 and rs16873842 was associated with an increased risk of LDH (OR=1.47, p=0.004).
• There were significant differences in C-reactive protein levels among different genotypes of rs157916 and rs780129 (p<0.05).
The authors concluded that – “this study suggested that LINC-PINT polymorphisms (rs157916 and rs7801029) were significantly associated with an increased risk of LDH in the Chinese population. Our study may provide a scientific basis for early screening, prevention, pathogenesis, and diagnosis of LDH in the Chinese Han population.”
Further reading:
Association of LINC PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control study, Wu et al Journal of Orthopaedic Surgery and Research (2023) 18:585 https://doi.org/10.1186/s13018-023-04052-