Dataset Information

Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis.

ABSTRACT:

Background

Degenerative lumbar scoliosis (DLS) progresses with aging after 50-60 years, and the genetic association of DLS remains largely unclear. In this study, the genetic association between collagen type II alpha 1 (COL2A1) gene and DLS was investigated.

Methods

COL2A1 gene polymorphism was investigated in DLS subjects compared to healthy controls to investigate the possibility of its association with COL2A1 gene. Based on a single nucleotide polymorphism (SNP) database, SNP (rs2276454) in COL2A1 were selected and genotyped using direct sequencing in 51 patients with DLS and 235 healthy controls. The SNP effects were analyzed using three models of codominant, dominant, and recessive. Logistic regression models were calculated for odds ratios (ORs) with 95% confidence intervals (CIs) and corresponding p-values, controlling age and gender as co-variables.

Results

SNP (rs2276454) in COL2A1 was significantly associated with the degenerative lumbar scoliosis in the codominant (OR, 1.90; 95% CI, 1.17 to 3.10; p = 0.008) and dominant models (OR, 3.58; 95% CI, 1.59 to 9.29; p = 0.001).

Conclusions

The results suggest that COL2A1 is associated with the risk of DLS in Korean population.

SUBMITTER: Hwang DW

PROVIDER: S-EPMC4233215 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

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Publications

Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis.

Hwang Dae Woo DW Kim Ki Tack KT Lee Sang Hoon SH Kim Jung Youn JY Kim Dong Hwan DH

Clinics in orthopedic surgery 20141110 4

<h4>Background</h4>Degenerative lumbar scoliosis (DLS) progresses with aging after 50-60 years, and the genetic association of DLS remains largely unclear. In this study, the genetic association between collagen type II alpha 1 (COL2A1) gene and DLS was investigated.<h4>Methods</h4>COL2A1 gene polymorphism was investigated in DLS subjects compared to healthy controls to investigate the possibility of its association with COL2A1 gene. Based on a single nucleotide polymorphism (SNP) database, SNP ...[more]

PMID: 25436060

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Project description:BackgroundInferior clinical outcomes have been reported in patients with degenerative lumbar spondylolisthesis (DLS) accompanied by lumbar degenerative scoliosis, but little attention has been paid to its radiologic assessment or preoperative planning. The aim of this study was to analyze the effect of transforaminal lumbar interbody fusion on patients with DLS and lumbar degenerative scoliosis and explore the surgical aspects benefiting the restoration of lumbar degenerative scoliosis.MethodsAll patients with DLS and lumbar degenerative scoliosis undergoing single-level unilateral transforaminal lumbar interbody fusion surgery between July 1, 2015, and April 30, 2021, were screened in this retrospective cohort study. Clinical outcomes including visual analog scale (VAS), Oswestry disability index (ODI), and radiographic parameters of sagittal and coronal alignment, cage spatial locations, and angle of pedicle screw (parallel, cranial, and caudad angle) were assessed. Coronal asymmetry was demonstrated by the intervertebral height difference between the medial and lateral margins of indexed intersegmental space. The correlations between Δintervertebral height difference (postoperative intervertebral height difference-preoperative intervertebral height difference) and radiographic parameters and clinical outcomes were analyzed by univariable, multivariable, mediation, and correlation analyses. Significance was set at a bilateral P<0.05.ResultsA total of 57 included patients were followed up for a minimum of 1 year. Reduction of VAS, ODI, and improvement of radiographic parameters were found after surgery. The cranial angle of the lower pedicle screw positively correlated with Δintervertebral height difference restoration (b=0.54; standard error=0.11; P<0.001).ConclusionsTransforaminal lumbar interbody fusion surgery appears to be an effective approach to improving the radiographic and clinical outcomes of patients with DLS and lumbar degenerative scoliosis. The cranial direction of the lower pedicle screws in single-level unilateral transforaminal lumbar interbody fusion surgery may be associated with a better postoperative restoration of lumbar degenerative scoliosis.

Project description:BackgroundThe windswept lower limb deformity describes valgus deformity in one leg with varus deformity in the other. It is mostly seen in young children with metabolic bone diseases (such as rickets) and may lead to leg length discrepancy (LLD) and Degenerative scoliosis (DS) in older age. To the best of our knowledge, there was no report of the spinal surgery in patient with severe DS associated with windswept deformity. The objective of this study is to report the unique case of a 60-year-old woman with severe degenerative scoliosis (DS) associated with windswept deformity caused by rickets who underwent a posterior correction and fusion surgery in spine.Case presentationThe patient was diagnosed as rickets windswept lower limb deformity for 50 years but never went through routine treatment. Then, she performed lumbar scoliosis for more than 20 years and suffered from severe back pain for 4 years. After overall clinical evaluation and radiographic measures, we performed a posterior surgical correction and fusion from T9-L5. With this surgery, the main thoracolumbar curve Cobb angle corrected from 72.5° to 21.0°, the coronal balance from 0 cm to 2.0 cm while the sagittal vertical axis (SVA) from 1.5 cm to - 1.0 cm. At 2 years postoperative follow-up, her back pain has almost completely relieved with a satisfied fixation and bone fusion showed on CT scans. However, a coronal imbalance was found with C7-CSVLdistance equal to 4.0 cm. This coronal imbalance was highly correlated to the untreated LLD and pelvic obliquity, and should be improved by standing posture or shoe lifts.ConclusionsFor such patient, the pure spinal correction and fusion surgery, in spite of lower limbs deformity, can achieve good relieve of back pain symptom, however may accompany by the complication of coronal imbalance due to the unimproved pelvic obliquity and LLD. However, longer follow-up is necessary to observe the long-term outcome of this patient's postoperative coronal imbalance.

Project description:ObjectiveOur study aimed to assess the effectiveness of the simplified S1 vertebral bone quality (VBQ) score in predicting the incidence of proximal junctional kyphosis (PJK) after surgery for degenerative lumbar scoliosis (DLS).MethodsWe reviewed 122 patients with DLS who underwent posterior lumbar decompression and long-segment fusion surgery in our hospital from January 2016 to December 2020. The patients were classified into PJK group and non-PJK group. S1 VBQ scores are determined by signal intensity measurements taken from the mid-sagittal plane of T1-weighted non-contrast MRI. Logistic regression analysis was used to identify factors associated with PJK. Receiver-operating characteristic curve (ROC) analysis was used to evaluate the value of S1 VBQ score in predicting pedicle PJK after DLS.Results122 DLS patients (90 females and 32 males) met the inclusion criteria. In addition, 27 patients (22.13%) had PJK at the time of last follow-up. VBQ was higher in PJK patients than non-PJK patients (3.58 ± 0.67 vs. 3.08 ± 0.54, p < 0.001). Preoperatively, patients in the PJK group had a greater TLK than those in the non-PJK group (20.00 ± 6.22 vs. 16.86 ± 5.38, p = 0.011). After surgery, patients in the PJK group had greater TLK (p < 0.001) and PJA (p < 0.001) compared with the non-PJK group. At final FU, patients in the PJK group had greater TK (p = 0.002), TLK (p < 0.001), SVA (p < 0.001), and PJA (p < 0.001) than patients in the non-PJK group (Table 4). In multivariate logistic regression analysis, higher VBQ score (OR 4.565, 95% CI 1.43-14.568, p = 0.010), advanced age (OR 1.119, 95% CI 1.021-1.227, p = 0.016), and larger TLK (OR 1.191, 95% CI 1.041-1.362, p = 0.011) were significant predictors of postoperative PJK in patients with DLS (Table 6). A statistically significant positive correlation existed between VBQ score and PJA change (r = 0.370, p < 0.001). We created ROC curves for VBQ scores as predictors of PJK with a diagnostic accuracy of 72.1% (95% CI 60.15-82.9%.The ideal limit for the VBQ score was 3.205 (sensitivity: 77.8%, specificity: 81.4%).ConclusionTo the best of our knowledge, this is the first study to evaluate the effectiveness of the S1 VBQ score in predicting postoperative PJK in DLS. Our study included major risk factors and found that S1 VBQ score was a significant predictor of PJK in patients undergoing DLS surgery. The higher the S1 VBQ score, the higher the probability of PJK.

Project description:BackgroundIt was reported that Fas (rs1800682, rs2234767) and FasL (rs5030772, rs763110) gene polymorphism might be related to the risk of musculoskeletal degenerative diseases (MSDD), such as osteoarthritis (OA), intervertebral disc degeneration (IVDD) and rheumatoid arthritis (RA). However, data from different studies was inconsistent. Here we aim to elaborately summarize and explore the association between the Fas (rs1800682, rs2234767) and FasL (rs5030772, rs763110) and MSDD.MethodsLiteratures were selected from PubMed, Web of Science, Embase, Scopus and Medline in English and VIP, SinoMed, Wanfang and the China National Knowledge Infrastructure (CNKI) in Chinese up to August 21, 2017. All the researches included are case-control studies about human. We calculated the pooled odds ratios (ORs) with 95% confidence intervals (95% CI) to evaluate the strengths of the associations of Fas (rs1800682, rs2234767) and FasL (rs5030772, rs763110) polymorphisms with MSDD risk.ResultsEleven eligible studies for rs1800682 with 1930 cases and 1720 controls, 6 eligible studies for rs2234767 with 1794 cases and 1909 controls, 3 eligible studies for rs5030772 with 367 cases and 313 controls and 8 eligible studies for rs763110 with 2010 cases and 2105 controls were included in this analysis. The results showed that the G allele of Fas (rs1800682) is associated with an increased risk of IVDD in homozygote and recessive models. The G allele of Fas (rs2234767) is linked to a decreased risk of RA but an enhanced risk of OA in allele and recessive models. In addition, the T allele of FasL (rs763110) is correlated with a reduced risk of IVDD in all of models. However, no relationship was found between FasL (rs5030772) and these three types of MSDD in any models.ConclusionsFas (rs1800682) and FasL (rs763110) polymorphism were associated with the risk of IVDD and Fas (rs2234767) was correlated to the susceptibility of OA and RA. Fas (rs1800682) and Fas (rs2234767) are more likely to be associated with MSDD for Chinese people. FasL (rs763110) is related to the progression of MSDD for both Caucasoid and Chinese race groups. But FasL (rs5030772) might not be associated with any types of MSDD or any race groups statistically.

Dataset Information

Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis.

Background

Methods

Results

Conclusions

Publications

Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis.

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