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

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.

Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population.

BACKGROUND: Lumbar disc herniation (LDH) is a common spinal disease in clinical practice. Once lumbar disc herniation occurs, it seriously reduces patient's quality of life. The EYS (eyes shut homolog) was discovered in recent years and it may be related to lumbar disc herniation. So we conducted a case-control study to explore the relationship between EYS polymorphism and lumbar disc herniation risk. METHODS: We selected 5 single-nucleotide polymorphisms (SNPs) of EYS gene in a case-control study with 508 cases and 508 healthy controls to evaluate the relatedness by using genetic model, haplotype, and stratification analysis. RESULTS: We found that the minor alleles of rs62413038 (OR = 1.21, 95%CI: 1.01-1.43, p = .036) and rs9450607 (OR = 1.26, 95% CI: 1.05-1.53, p = .016) were associated with an increased risk of lumbar disc herniation in the allelic model analysis. In the genotypic model analysis, rs62413038 displayed a significantly increased risk of lumbar disc herniation in log-additive models (OR = 1.20, 95% CI: 1.01-1.43, p = .039). While the rs9450607 was also obviously associated with an increased lumbar disc herniation risk in recessive (OR = 1.98, 95% CI: 1.24-3.13, p = .004) and log-additive models (OR = 1.27, 95% CI: 1.05-1.55, p = .014). In addition, in the haplotype analyses of the SNPs, we found that the "CGGA" haplotype of rs1482456, rs9342097, rs9450607, and rs7757884 was associated with lumbar disc herniation. (OR = 0.52, 95% CI: 0.30-0.89, p = .017). CONCLUSION: These results suggest that EYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation.

Prevalence and sex difference of lumbar disc space narrowing in elderly chinese men and women: osteoporotic fractures in men (Hong Kong) and osteoporotic fractures in women (Hong Kong) studies.

OBJECTIVE: Osteoporotic Fractures in Men (Hong Kong) and Osteoporotic Fractures in Women (Hong Kong) represent the first large-scale prospective population-based studies on bone health in elderly (age≥65 years) Chinese men (n=2,000) and women (n=2,000). We undertook the current study to investigate the prevalence of lumbar disc space narrowing in these subjects, and to identify the potential relationship between disc space narrowing and sex, bone mineral density (BMD), and other demographic and clinical data. METHODS: On lumbar lateral radiographs, L1/L2-L4/L5 disc space was classified into 4 categories: 0=normal; 1=mild narrowing; 2=moderate narrowing; 3=severe narrowing. We compared demographic and clinical data between subjects with and those without total disc space narrowing scores≥3. RESULTS: Disc space narrowing was more common in elderly women than in elderly men. The mean±SD disc space narrowing score for the 4 discs was 2.71±2.21 for men and 3.08±2.50 for women (P<0.0001). For the 3 age groups of 65-69 years, 70-79 years, and ≥80 years, the average disc space narrowing score increased with increasing age in both men and women, and to a greater degree in women than in men. The average disc space narrowing score differences between women and men were 0.12, 0.40, and 0.90, respectively, in the 3 age groups. For both men and women, a disc space narrowing score≥3 was associated with older age, higher spine and hip BMD, low back pain, and restricted leg mobility. CONCLUSION: The prevalence and severity of disc space narrowing are higher in elderly women than in elderly men. With increasing age, disc space narrowing progresses at a greater rate in women than in men. A disc space narrowing score≥3 is associated with higher spine and hip BMD.

Single-nucleotide gene polymorphisms involving cell death pathways: a study of Chinese patients with lumbar disc herniation.

OBJECTIVE: To evaluate the effect of polymorphisms of death pathway genes FAS and FASL on the risk of developing lumbar disc herniation (LDH) in a Northern Chinese population. BACKGROUND DATA: The FAS receptor-ligand system plays a key role to regulate apoptosis of cell. There is evidence that the apoptosis-mediated FAS receptor-ligand system is involved in the pathogenesis of disc degeneration. Some research considered single-nucleotide polymorphisms of FAS-1377G/A, FAS-670A/G, FASL-844T/C, and FASL INV2nt-124A/G may increase the risk of developing cancer. We therefore assess these four single-nucleotide polymorphisms as candidate susceptibility for LDH. METHODS: A total of 475 patients with LDH and 533 control subjects were selected. Genotypes were determined by polymerase chain reaction-based restriction fragment length polymorphism and matrix-assisted laser desorption ionization time-of-flight mass spectrometry. Associations with the risk of LDH were estimated by logistic regression model. RESULTS: Significant differences were found in genotypic distributions between cases and controls for FASL-844T/C, but not for other three polymorphisms. When compared with CC genotype, subjects with the TT genotype had a higher risk to develop LDH (odds ratio = 3.12; 95% confidence interval: 1.73-5.40). Moreover, an association was found between this genotype of FASL-844TT and more severe grades of disc degeneration. We observed statistically significant interactions between polymorphisms of FASL-844T/C and lumbar load, tobacco smoking, and age. CONCLUSION: Genetic polymorphisms of FASL-844T/C may be associated with an increased risk of developing disc degeneration and LDH.

Association between the expression of aggrecan and the distribution of aggrecan gene variable number of tandem repeats with symptomatic lumbar disc herniation in Chinese Han of Northern China.

STUDY DESIGN: Case-control study. OBJECTIVE: To examine the association between the expression of aggrecan and the aggrecan gene variable number of tandem repeats (VNTR) polymorphism with symptomatic lumbar disc herniation (LDH) in Chinese Han of Northern China. SUMMARY OF BACKGROUND DATA: Aggrecan fragments have been found in human degenerated discs, and an association between the aggrecan VNTR polymorphism and intervertebral disc degeneration has been previously reported in middle-aged Finnish men. However, the relationship between the munity of symptomatic LDH with the expression of aggrecan and aggrecan gene VNTR has not been well studied. METHODS: The disease group consisted of 70 patients already diagnosed with symptomatic LDH. The control group consisted of 14 patients restricted to spinal trauma and 113 healthy blood donors without symptoms of LDH who were not diagnosed with LDH. Disc tissue samples were obtained from surgical operations, and blood samples were donated from all participants. The aggrecan expression in isolated tissues was assessed by Western blot using specific antibodies. The aggrecan gene VNTR region was analyzed by polymerase chain reaction. RESULTS: The aggrecan expression positive rate of control group was statistically and significantly higher (P < 0.001) than that of the disease group. Moreover, there was a statistically significant higher frequency of allele 25 or allele 21 in disease group compared with controls (P(A25) = 0.003416 and P(A21) = 0.000716). Compared with the participants with 2 alleles > 25 repeats, subjects with 1 or 2 alleles < or = 25 repeats statistically and significantly overrepresented the disease group without the expression of aggrecan (P < 0.001). CONCLUSION: The findings suggest a relation between aggrecan and symptomatic LDH, where symptomatic LDH has a lower tendency of allele repeats. In addition, this study observed an association between the distribution of aggrecan gene VNTR polymorphism and the expression of aggrecan in symptomatic LDH.

[Association study of Trp2 allele polymorphism with degenerative disc disease in a Chinese Han nationality].

OBJECTIVE: To investigate the association between Trp2 allele polymorphism with degenerative disc disease (DDD) in a Chinese Han population. METHODS: A total of 125 DDD patients (58 males and 67 females, 51.8 +/- 7.6 years old), and 125 controls matched in sex and age (63 males and 62 females, 45.3 +/- 8.3 years old) were recruited in the case-control study. Their peripheral blood samples were collected for DNA isolation. Based on NCBI genebank, the corresponding single nucleotide polymorphisms (snp)-SNP1 (rs7533552) and SNP2 (rs2077871) were identified. Hardy-Weinberg equilibrium was analyzed both in case and control groups. Then the case group was classified into different clinical phenotypes according to severity of degeneration, sole or multi-disc degeneration and different affected discs. Genotyping of all selected SNPs was performed by SNP stream technology. The association analysis between phenotypes and SNPs was conducted. Pairwise linkage disequilibrium was calculated in control population using Haploview 4.0 software. RESULTS: SNP1 (rs7533552), SNP2 (rs2077871) and corresponding SNP of Trp2 allele were gentyped and both polymorphisms distributed in line with Hardy-Weinberg equilibrium in case and control groups. Allelic frequency of SNP1A, SNP1G, SNP2C and SNP2T (42%, 47%, 88% and 90% respectively) of case group were not significantly different from those of control group (48%, 53%, 88% and 10% respectively, all P > 0.05). Genotypic frequencies of SNP1AA, SNP1AG, SNP1GG, SNP2CC, SNP2CT and SNP2TT in case group were not significantly different from those of control group (all P > 0.05). However there was an association with genotypic frequencies of SNP2 and severity of disc degeneration (chi(2) = 6.920, P = 0.031). CONCLUSION: Trp2 allele is one of risk factors for the development and severity of DDD in a Chinese Han population.

Risk factors for lumbar intervertebral disc herniation in Chinese population: a case-control study.

STUDY DESIGN: A case-control study of 4180 subjects was carried. OBJECTIVE: To explore the risk factors of lumbar disc herniation in China. SUMMARY OF BACKGROUND DATA: In China, along with the economic development, people's living environment and working conditions have undergone some tremendous changes, such as the accelerating life pace and competition. In this situation, it is important to know whether the risk factors of lumbar disc herniation have changed or not. This case-control study, including the possible social and psychological factors based on the literature, attempted to search the new risk factor, therefore provide better prevention measures for lumbar disc herniation. METHODS: A total of 2010 hospitalized patients, diagnosed with lumbar disc protrusion by CT and/or MRI were selected as cases. A total of 2070 people from communities and hospitals, without history of low back pain and sciatica, were selected as controls. All patients and controls were investigated for their family history, occupational characters' smoking status, working psychosocial factors, etc. The risk factors were analyzed by multiple nonconditional logistic regression method. RESULTS: Family history (OR = 3.6) was the most important risk factor for lumbar disc protrusion in this study, followed by lumbar load (OR = 2.1), hard-working (OR = 1.8), and time urgency (OR = 1.1). Additionally, physical exercises (OR = 0.5) and bed characteristics (OR = 0.4) appeared to be the protective factors for lumbar disc protrusion. After stratified by age, family history (OR = 14.5), occupational character (OR = 5.2), and physical exercises (OR = 0.2) stronger association with lumbar disc protrusion was seen in subjects younger than 30 years. In subjects from 30 to 55 years, family history (OR = 5.1), lumbar load (OR = 1.91), hard-working (1.9), physical exercises (OR = 0.5), time urgency (OR = 1. 3), bed characteristics (OR = 0.4) were significantly important. In subjects older than 55 years, lumbar load (OR = 2.9) and bed characteristics (OR = 0.4) were closely related to lumbar disc protrusion. CONCLUSION: Family history, lumbar load, hard-working, and time urgency are the major risk factors for lumbar disc herniation, and physical exercises and sleeping on the hard bed might be the protective factors.

Demographical aspects of Schmorl nodes: a skeletal study.

STUDY DESIGN: A descriptive study of the association between Schmorl nodes (SNs) and gender, ethnic origin, and age in a normal skeletal population. OBJECTIVES: To gain reliable data on behavioral patterns of SNs in various human groups shedding light on its etiology. SUMMARY OF BACKGROUND DATA: Opinions regarding SNs prevalence in human populations vary greatly (from 5% to 70%). This caveat greatly reduced our ability to recognize the etiology of the phenomenon and understand its clinical significance. METHODS: Two hundred forty human skeleton vertebrae (T4-L5) from a normal adult population (divided by gender, ethnicity, and age) were examined for SNs. SNs were defined as depressions with sclerotic margins appearing on the vertebral body surface. RESULTS: One hundred sixteen individuals (48.3%) of the 240 studied manifested SNs along their thoracolumbar spine. SNs are age independent and gender and ethnicity dependent, are significantly more common in males (54.2%) versus females (43%) and more common in European-Americans (60.3%) versus African-Americans (36.7%). CONCLUSION: SNs are a common phenomenon in the normal adult populations with almost half of the individuals in our sample manifesting at least 1 vertebra with SN. Its demographic characteristics suggest that the phenomenon is not of occupational origin, promoting the notion of genetic background.

Cross-cultural adaptation and validation of the Norwegian version of the Tampa scale for kinesiophobia.

STUDY DESIGN: Translation, cross-cultural adaptation, and validation of a self-report questionnaire. OBJECTIVE: To perform a translation and cross-cultural adaptation of the Tampa scale for kinesiophobia (TSK) and to investigate its test-retest reliability, construct validity, and responsiveness among Norwegian-speaking patients with sciatica due to disc herniation. SUMMARY OF BACKGROUND DATA: The TSK is a self-report questionnaire developed to assess kinesiophobia, or fear of movement and/or (re)injury. To date, the psychometric properties of the TSK have not been demonstrated in patients with sciatica. METHODS: The TSK was translated and back-translated according to recent guidelines for cross-cultural adaptation of self-report measures. A principal components analysis and an evaluation of floor and ceiling effects were conducted. The TSK was tested for test-retest reliability, repeatability, internal consistency, and construct validity. Responsiveness was measured as standardized response means using a global change scale after 3 months as the external criteria. RESULTS: In total, 466 patients with sciatica due to disc herniation were included. The TSK was easily comprehended. The principal components analysis yielded 3 factors. Component 1 showed a floor effect in which 152 (33.3%) of the patients achieved the lowest possible score. Repeatability according to Bland & Altman was 8, the coefficient of variance for paired measurements was 11%, and weighted kappa values for each item were moderate to substantial. Internal consistency by Cronbach's alpha was 0.81. Correlations with the Fear Avoidance Beliefs Questionnaire (FABQ), FABQ/work, and FABQ/physical activity were 0.50, 0.38, and 0.51, respectively. Responsiveness was low to moderate. CONCLUSION: The Norwegian version of the TSK was easily comprehended and demonstrated satisfactory validity and reliability for the assessment of fear of movement and/or (re)injury in patients with sciatica due to disc herniation. However, responsiveness was low to moderate.

Radiculopathy and the herniated lumbar disk: controversies regarding pathophysiology and management.

Lumbar disk herniation is one of the most common problems encountered in orthopaedic practice. Despite the frequency of its occurrence, however, much about lumbar disk herniation is poorly understood. It is important to review the basic and clinical science underlying the pathophysiology and treatment, surgical and nonsurgical, of this disorder.

Race differences in diagnosis and surgery for occupational low back injuries.

STUDY DESIGN: Population-based telephone survey in Missouri. OBJECTIVE: To examine the unique contribution of race to diagnosis and surgery rates in workers' compensation claimants. SUMMARY OF BACKGROUND DATA: Race differences in diagnostic specificity and rates of surgery may mediate documented differences in workers' compensation case management outcomes (treatment expenditures, disability ratings, and settlement awards) between African Americans and whites with low back injuries. PARTICIPANTS AND METHODS: African American (n = 580) and white (n = 892) workers' compensation claimants with single-incident low back injuries were interviewed regarding diagnoses and treatments received for their injury. Participants were, on average, 21 months after settlement. Analyses examined the association of race (controlling for clinical findings, legal representation, age, gender, and socioeconomic status) with diagnosis (herniated disc vs. regional backache) and surgery. Risk ratios for race were calculated. RESULTS: Whites were 40% more likely than African Americans to receive a herniated disc diagnosis. Of claimants with the latter diagnosis, whites were 110% more likely than African Americans to undergo surgery. CONCLUSIONS: Race differences in diagnosis and surgery may help to explain why African Americans, relative to whites, receive lower workers' compensation medical expenditures, disability ratings, and settlement awards.