Association of GSDMC polymorphisms with lumbar disc herniation among Chinese Han population

Abstract

Lumbar disc herniation (LDH) is a relatively common spinal disease, but its pathogenesis is still unknown. Numerous studies have shown that LDH is closely correlated with inflammation, and it has been found to be related to some single nucleotide polymorphisms (SNPs). Our purpose is to explore the correlation between gene polymorphisms of GSDMC and LDH risk, which is of great significance for the study of the pathogenesis of LDH. DNA was extracted from 508 LDH patients and 508 controls. We select SNPs with minor allele frequency >5% in GSDMC gene from 1,000 genome project (http://www.internationalgenome.org/). Then, genotyping was performed using Agena MassARRAY. We used unconditional logistic regression analysis to calculate odds ratios (ORs) and 95% confidence intervals (CIs). The haplotype construction and analysis in GSDMC were applied to detect the association. We identified that rs77681114 in the GSDMC gene was significantly associated with a decreased risk of LDH in the alleles model (OR = 0.81, 95% CI = 0.66–0.99, p = .049) and the log‐additive model (OR = 0.81, 95% CI = 0.65–0.99, p = .049) adjusted by age and gender. The haplotype “AG” constructed by rs77681114 and rs4285452 (OR = 1.24, 95% CI = 1.01–1.53, p = .039) was associated with increased risk of LDH. After age and gender stratification, rs77681114 protected LDH risk at age 49 or older in allelic model (p = .010), co‐dominant model (p = .006), dominant model (p = .029), recessive model (p = .011) and log‐additive model (p = .005). Rs77681114 had protective effect on female LDH risk in both co‐dominant models (p = .033) and recessive models (p = .043). These studies indicated that genetic polymorphisms of GSDMC can relatively reduce the risk of LDH.

Lactobacillus paracasei S16 Alleviates Lumbar Disc Herniation by Modulating Inflammation Response and Gut Microbiota

“…lumbar disc herniation (LDH) is one of the common spinal diseases and affects around 9% population worldwide (1). It has been well established that LDH is highly associated with the inflammation (2). For example, herniated disc tissue has increased levels of proinflammatory and regulatory cytokines, such as interleukin 1β (IL-1β), IL-4, IL-6, IL-12, tumor necrosis factor α (TNF-α), and interferon-γ (IFN-γ) (3)(4)(5).…”

Low Back Pain With Persistent Radiculopathy; the Clinical Role of Genetic Variants in the Genes SOX5, CCDC26/GSDMC and DCC

“…The present study did not support the hypothesis that the SNP rs7833174 located between CCDC26 and GSDMC is associated with LBP with radiculopathy 12 months after an acute episode of LBP with radiculopathy. However, CCDC26 / GSDMC rs7833174 have been associated with lumbar microdiscectomy ( Bjornsdottir et al, 2017 ) and lumbar spinal stenosis ( Jiang et al, 2020 ), and a different variant GSDMC rs77681114 have been associated with lumbar disc herniation ( Wu et al, 2020 ). Lumbar micro discectomy is a common treatment for lumbar disc herniation ( Schoenfeld and Weiner, 2010 ) and both lumbar disc herniation and lumbar spinal stenosis may cause radiculopathy ( Konstantinou and Dunn, 2008 ).…”

Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population

“…A subsequent meta-GWAS on chronic back pain involving 158,000 individuals of European ancestry further confirmed rs7833174 to be strongly associated with chronic back pain (P = 4.4 × 10 -13 ) 25 . A recent study by Wu et al 26 evaluated the relationship between other GSDMC gene variations (rs4527833, rs77681114, rs4285452, rs4733741 and rs4509280) and LDH risk, and identified that rs77681114 was significantly associated with a decreased risk of LDH. However, these findings were inconsistent with our study as our results found neither the allelic nor the genotypic frequencies of these variants (rs6651255, rs7833174, rs4130415 and rs7816342) to be significantly different between our LDD group and control.…”