Related Experiment Video
Updated: Aug 28, 2026

Operational and Intervention Effects of Targeted Tuina in Lumbar Intervertebral Disc Degeneration Model Rabbits
Published on: July 21, 2023
GWAS-Informed Candidate Genetic Variants and Gene-Gene/Gene-Environment Interaction Patterns Associated with
Ridan Lei1, Mengyuan Zhang2, Manjun Luo1
1Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha 410013, China.
Background/Objectives:
Intervertebral disc degeneration (IDD) is a multifactorial spinal degenerative condition influenced by inherited susceptibility and environmental exposures. Genetic evidence from Chinese Han populations remains limited. This study aimed to evaluate GWAS-informed and previously reported candidate single-nucleotide polymorphisms (SNPs) associated with IDD and to explore potential gene-gene and gene-environment interaction patterns.
Methods:
A hospital-based case-control study was conducted in 1951 unrelated Chinese Han participants, including 929 patients with magnetic resonance imaging-confirmed IDD and 1022 control subjects without evident IDD. Candidate SNPs were genotyped using the MassARRAY platform. Multivariable logistic regression was used to assess genetic associations under different genetic models, and linkage disequilibrium, haplotype associations, additive and multiplicative interactions, and generalized multifactor dimensionality reduction (GMDR) were further evaluated.
Results:
Of the 60 initially selected candidate SNPs, 49 passed quality control and were retained for association analyses. Several variants showed nominal associations with IDD susceptibility. Representative associations included MMP3 rs591058 under the recessive model (OR = 1.37, 95% CI: 1.06-1.79, p = 0.019) and VDR rs2228570 under the dominant model (OR = 1.52, 95% CI: 1.10-2.11, p = 0.012), whereas the CCDC26 rs6651255-rs7816342 AC haplotype showed a protective association (OR = 0.87, 95% CI: 0.76-0.99, p = 0.046). Exploratory interaction analyses suggested possible gene-gene interactions involving ACAN, IL1B, VDR, CASP3, and CEP162/RIPPLY2, as well as gene-environment interactions involving smoking, weight-bearing workload, and duration of bending work.
Conclusions:
This study provides preliminary genetic epidemiological evidence that GWAS-informed candidate variants and exploratory interaction patterns may be associated with IDD susceptibility in the Chinese Han population. These findings require further replication and functional validation.
Related Concept Videos
Degenerative Disc Disease I: Introduction
Degenerative Disc Disease ll: Pathophysiology
Herniated Intervertebral Disc l: Introduction
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Single Nucleotide Polymorphisms-SNPs
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
