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RAB40C gene polymorphisms rs62030917 and rs2269556 are associated with an increased risk of lumbar disc herniation
Kexun Liu1, Hongjun Huo1, Wenchao Jia2
1Department of Spine Surgery, Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, China.
Insights
Genetic factors, specifically RAB40C single nucleotide polymorphisms (SNPs), increase the risk of lumbar disc herniation (LDH). This study identified two key SNPs, rs62030917 and rs2269556, associated with higher LDH susceptibility in the Chinese Han population.
Area of Science:
- Genetics
- Orthopedics
- Epidemiology
Background:
- Lumbar disc herniation (LDH) poses a significant health and economic burden.
- Genetic factors, including single nucleotide polymorphisms (SNPs), are implicated in LDH pathogenesis.
- The role of RAB40C gene SNPs in LDH risk requires further investigation.
Purpose of the Study:
- To investigate the association between RAB40C gene SNPs and the risk of developing LDH.
- To elucidate the genetic susceptibility to LDH in the Chinese Han population.
Main Methods:
- A case-control study involving 508 LDH cases and 508 healthy controls.
- Genotyping of three tag SNPs in the RAB40C gene using the Agena MassARRAY platform.
- Statistical analysis using unconditional logistic regression to calculate odds ratios (ORs) and 95% confidence intervals (CIs), adjusting for age and gender.
Main Results:
- Two RAB40C SNPs, rs62030917 and rs2269556, were significantly associated with an increased risk of LDH.
- rs2269556 showed increased LDH risk under codominant and log-additive models.
- rs62030917 was associated with increased LDH risk across multiple genetic models, particularly in individuals younger than 49 years.
Conclusions:
- This study provides the first evidence that specific RAB40C SNPs (rs62030917 and rs2269556) contribute to genetic susceptibility to LDH.
- These findings highlight the role of RAB40C in the genetic etiology of lumbar disc herniation.
Background:
Lumbar disc herniation (LDH) places a serious burden on the daily lives and socioeconomics of people. Although the pathogenesis of LDH is complex, genetic factors such as single nucleotide polymorphisms (SNPs) may affect the risk of developing LDH. In the present study, we aimed to elucidate the effect of RAB40C SNPs on the risk of LDH in the Chinese Han population.
Methods:
We investigated 508 LDH cases and 508 healthy controls for this case-control study. Three tag SNPs in RAB40C were selected and genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). After adjusting for age and gender, odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression.
Results:
In the allele model, we found rs62030917 and rs2269556 in RAB40C with a minor G allele significantly increased the risk of LDH (rs62030917: OR = 1.23, 95% CI = 1.00-1.50, p = 0.046; rs2269556: OR = 1.21, 95% CI = 1.02-1.45, p = 0.033). In genetic model analysis, rs2269556 was associated with an increased risk of LDH under both codominant (OR = 1.49, 95% CI = 1.03-2.15, p = 0.035) and log-additive models (OR = 1.21, 95% CI = 1.01-1.45, p = 0.035). rs62030917 of RAB40C was associated with an increased risk of LDH under codominant, recessive and log-additive models (p < 0.05) only among individuals younger than 49 years after stratification by age.
Conclusions:
For the first time, our results suggest that rs62030917 and rs2269556 in the RAB40C gene influence genetic susceptibility to LDH.
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