Dataset Information

CHRNA5/CHRNA3 gene cluster is a risk factor for lumbar disc herniation: a case-control study.

ABSTRACT:

Background

Lumbar disc herniation, a type of chronic low back pain syndrome, is caused by the lumbar intervertebral disk degeneration. Genetic variation in the CHRNA5/CHRNA3 has shown strong associations with smoking-related diseases. This study's aim is to test whether single-nucleotide polymorphisms in the CHRNA5/CHRNA3 gene are associated with lumbar disc herniation risk.

Methods

The genotype frequency distributions of the polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism in 380 lumbar disc herniation patients (case group) and 400 healthy individuals (control group). Allelic, genotypic, and haplotype analyses were performed.

Results

We found that the individuals with rs8040868 CT genotype had a 0.46-fold higher risk of lumbar disc herniation than those with rs8040868 TT genotype, in men group (OR = 0.46, 95% CI 0.25-0.84, p = 0.012). Also among women, rs8040868 CT + CC genotype still reduced the risk of lumbar disc herniation under the dominant model (OR = 0.50, 95% CI 0.28-0.89, p = 0.019). Haplotype analysis showed that compared with the CHRNA5 "TACAACCG" wild-type, the "TACACCCG" haplotype was found to be associated with a decreased risk of lumbar disc herniation (LDH) (OR = 0.79, 95% CI 0.63-1.00, p = 0.047), while, in the less than 50-year-old group, CHRNA5 "TACACCCG" increased the risk of LDH (OR = 1.46, 95% CI 1.01-2.13, p = 0.047).

Conclusions

Our data suggest that gene variance in the CHRNA5/CHRNA3 is associated with risk of lumbar disc herniation in the case-control study.

SUBMITTER: Yang X

PROVIDER: S-EPMC6668080 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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Publications

CHRNA5/CHRNA3 gene cluster is a risk factor for lumbar disc herniation: a case-control study.

Yang Xuejun X Guo Xiaodong X Huang Zhi Z Da Yifeng Y Xing Wenhua W Li Feng F Li Manglai M Sun Ke K Jia Haiyu H Zhu Yong Y

Journal of orthopaedic surgery and research 20190730 1

<h4>Background</h4>Lumbar disc herniation, a type of chronic low back pain syndrome, is caused by the lumbar intervertebral disk degeneration. Genetic variation in the CHRNA5/CHRNA3 has shown strong associations with smoking-related diseases. This study's aim is to test whether single-nucleotide polymorphisms in the CHRNA5/CHRNA3 gene are associated with lumbar disc herniation risk.<h4>Methods</h4>The genotype frequency distributions of the polymorphisms were detected by polymerase chain reactio ...[more]

PMID: 31362771

Similar Datasets

Project description:BackgroundLumbar disc herniation (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, this study aimed to investigate the association between LINC-PINT polymorphisms and LDH risk.MethodsDNA 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. We 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).ResultsResults 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). Additionally, there were significant differences in C-reactive protein levels among different genotypes of rs157916 and rs780129 (p < 0.05).ConclusionThis study suggests that LINC-PINT gene polymorphisms (rs157916 and rs7801029) are considered risk factors for LDH in the Chinese Han population and provide a scientific basis for early screening, prevention, and diagnosis of LDH.

Project description:Study designSecondary analysis of data from a concurrent randomized trial and cohort study.ObjectiveThe aim of this study was to determine risks and predictors of recurrent pain following standard open discectomy for subacute/chronic symptomatic lumbar disc herniation (SLDH).Summary of background dataMost previous studies of recurrence after discectomy do not explicitly define pain resolution and recurrence, and do not account for variable durations of time at risk for recurrence.MethodsWe used survival analysis methods to examine predictors of leg pain recurrence. For individuals with initial resolution of leg pain, we defined recurrent leg pain as having leg pain, receiving lumbar epidural steroid injections, or undergoing lumbar surgery subsequent to initial leg pain resolution. We calculated cumulative risks of leg pain recurrence using Kaplan-Meier survival curves, and examined predictors of recurrence using Cox proportional hazards models. We used similar methods to examine LBP recurrence.ResultsOne- and three-year cumulative risks of leg pain recurrence were 20% and 45%, respectively. One- and three- year leg pain recurrence risks were substantially lower in participants with complete initial resolution of leg pain (17% and 41%, respectively) than in those without (27% and 54%, respectively). In multivariate analyses, complete leg pain resolution (adjusted hazard ratio [aHR] 0.69; 95% confidence interval [CI] 0.52-0.90), smoking (aHR 1.68 [95% CI 1.22-2.33]), and depression (aHR 1.74 [95% CI 1.18-2.56]) predicted leg pain recurrence. The 1- and 3-year risk of LBP recurrence was 29% and 65%, respectively. LBP recurrence risk at 3 years was substantially lower in participants with complete initial resolution of LBP than in those without, but not at 1 year.ConclusionRecurrence of leg pain and LBP is common after discectomy for SLDH. Cumulative risks of both leg pain and LBP recurrence were generally lower in participants achieving complete initial resolution of pain post-discectomy.Level of evidence2.

Dataset Information

CHRNA5/CHRNA3 gene cluster is a risk factor for lumbar disc herniation: a case-control study.

Background

Methods

Results

Conclusions

Publications

CHRNA5/CHRNA3 gene cluster is a risk factor for lumbar disc herniation: a case-control study.

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