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Bone & Joint Open
Vol. 5, Issue 9 | Pages 768 - 775
18 Sep 2024
Chen K Dong X Lu Y Zhang J Liu X Jia L Guo Y Chen X

Aims. Surgical approaches to cervical ossification of the posterior longitudinal ligament (OPLL) remain controversial. The purpose of the present study was to analyze and compare the long-term neurological recovery following anterior decompression with fusion (ADF) and posterior laminectomy and fusion with bone graft and internal fixation (PLF) based on > ten-year follow-up outcomes in a single centre. Methods. Included in this retrospective cohort study were 48 patients (12 females; mean age 55.79 years (SD 8.94)) who were diagnosed with cervical OPLL, received treatment in our centre, and were followed up for 10.22 to 15.25 years. Of them, 24 patients (six females; mean age 52.88 years (SD 8.79)) received ADF, and the other 24 patients (five females; mean age 56.25 years (SD 9.44)) received PLF. Clinical data including age, sex, and the OPLL canal-occupying ratio were analyzed and compared. The primary outcome was Japanese Orthopaedic Association (JOA) score, and the secondary outcome was visual analogue scale neck pain. Results. Compared with the baseline, neurological function improved significantly after surgery in all patients of both groups (p < 0.001). The JOA recovery rate in the ADF group was significantly higher than that in the PLF group (p < 0.001). There was no significant difference in postoperative cervical pain between the two groups (p = 0.387). The operating time was longer and intraoperative blood loss was greater in the PLF group than the ADF group. More complications were observed in the ADF group than in the PLF group, although the difference was not statistically significant. Conclusion. Long-term neurological function improved significantly after surgery in both groups, with the improvement more pronounced in the ADF group. There was no significant difference in postoperative neck pain between the two groups. The operating time was shorter and intraoperative blood loss was lower in the ADF group; however, the incidence of perioperative complications was higher. Cite this article: Bone Jt Open 2024;5(9):768–775


The Journal of Bone & Joint Surgery British Volume
Vol. 69-B, Issue 4 | Pages 569 - 575
1 Aug 1987
McAfee P Regan J Bohlman H

We report 14 cases of symptomatic ossification of the posterior longitudinal ligament (OPLL) diagnosed in non-oriental men between 1978 and 1985. All 14 patients had incomplete spinal cord syndromes due to OPLL in the cervical spine and had been referred undiagnosed from other institutions. Twelve had severe myelopathy and seven were wheelchair-bound before OPLL was diagnosed, while six patients had had operations elsewhere for their neurological dysfunction. There was a close association between OPLL and diffuse idiopathic skeletal hyperostosis (Forestier's disease) on plain radiographs, seven patients having both disorders. Enhanced CT scans proved to be the best diagnostic method for the localisation of cord compression, and magnetic resonance imaging, used on four recent cases, provided the best visualisation of the extent of involvement in the sagittal plane. We aim to heighten awareness of OPLL in non-orientals, in whom the clinical features, histological characteristics, and radiographic patterns are very similar to those of oriental patients


The Journal of Bone & Joint Surgery British Volume
Vol. 64-B, Issue 5 | Pages 561 - 564
1 Dec 1982
Hanai K Inouye Y Kawai K Tago K Itoh Y

In this series, 15 patients with ossification of the posterior longitudinal ligament underwent anterior decompression to relieve moderate or severe myelopathy, which in 11 included urinary disturbance. The operation consisted of partial resection of the vertebrae, release of the ossified plaque from the surrounding tissue and the insertion of an iliac bone graft. The extent of ossification was confirmed by computerised tomography before and after operation. The plaque was completely detached and moved forward in half of the patients, but only partially moved in the remainder. Symptoms improved considerably. Urinary disturbance disappeared in all patients, but sensory disturbance was left in most. Two patients had prolonged symptoms which were not relieved despite the complete release of the ossified defect


The Journal of Bone & Joint Surgery British Volume
Vol. 59-B, Issue 4 | Pages 481 - 484
1 Nov 1977
Hanai K Adachi H Ogasawara H

Ossification of the posterior longitudinal ligament in the cervical region is generally regarded as a rare disease, though a Japanese series of 185 cases has been reported. The main symptoms arise from a myelopathy, the degree of which varies from moderate to severe, due to stenosis of the spinal canal. In order to clarify the relationship between the severity of symptoms and the cross-sectional area of ossification, axial transverse tomography of the cervical spine has been carried out on twenty-six patients at intervals of 5 millimetres over the full extent of the ossification. In this way the cross-sectional areas of the ossified tissue and of the spinal canal were calculated. The former varied from a minimum of 0.8 to a maximum of 1.8 square centimetres. In cases of severe myelopathy the ossification was mainly at the fourth and fifth cervical levels and the stenosis ration exceeded 30 per cent


Aims. The optimal procedure for the treatment of ossification of the posterior longitudinal ligament (OPLL) remains controversial. The aim of this study was to compare the outcome of anterior cervical ossified posterior longitudinal ligament en bloc resection (ACOE) with posterior laminectomy and fusion with bone graft and internal fixation (PTLF) for the surgical management of patients with this condition. Methods. Between July 2017 and July 2019, 40 patients with cervical OPLL were equally randomized to undergo surgery with an ACOE or a PTLF. The clinical and radiological results were compared between the two groups. Results. The Japanese Orthopaedic Association (JOA) score and recovery rate in the ACOE group were significantly higher than those in the PTLF group during two years postoperatively, provided that the canal occupying ratio (COR) was > 50%, or the K-line was negative. There was no significant difference in JOA scores and rate of recovery between the two groups in those in whom the COR was < 50%, or the K-line was positive. There was no significant difference in the Cobb angle between C2 and C7, sagittal vertical axis, cervical range of motion (ROM), and complications between the two groups. Conclusion. Compared with PTLF, ACOE is a preferred surgical approach for the surgical management of patients with cervical OPLL in that it offers a better therapeutic outcome when the COR is > 50%, or the K-line is negative, and it also preserves better cervical curvature and sagittal balance. The prognosis of ACOE is similar to that of PTLE when the COR is < 50%, or the K-line is positive. Cite this article: Bone Joint J 2023;105-B(4):412–421


Orthopaedic Proceedings
Vol. 84-B, Issue SUPP_III | Pages 226 - 226
1 Nov 2002
Imai T Ishii H Konishi A
Full Access

In 141 patients with ossification of posterior longitudinal ligament, open-door expansive laminoplasty was done from 1980 to 1998. A follow-up study was made. 10 patients with cervical cord injury and cerebral diseases before or after operation were excluded. 121 of 131 patients were followd directly one to fifteen years(mean: 5 years and 3 months). Subjects included 93 male and 28 female. At the time of operation, their ages ranged from 40 to 80 years(mean:59.5). Operative results were evaluated using the Japanese Orthopaedic Association’s Score(JOA Score) and Hirabayashi’s improvement rate. X-ray was taken to measure the range of cervical spine motion, curvature of the cervical spine and progression of ossified masses. Preoperative JOA scores ranged from 2 to 14 points(mean:9.1), postoperative JOA scores ranged 7 to 17 points(mean:14.1). The mean improvement rate was 62%. The range of cervical spine motion decreased from 26.6 degrees prior to operation to 10.8 degrees after operation. Lordotic curvature also fell from 11.8 degrees before operation to 6.6 degrees after operation. In 20 patients, the postoperative kyphotic curvature increased to 5 degrees of more, although no difference was seen in their improvement rates compared with patients whose lordosis remained unchanged. 80 of 121 patients experienced progression of ossified masses. Three patients underwent additional laminectomy due to progression of ossification or insufficient expansion. Operation took an average 80 minutes and mean amount of blood loss was 215 ml. No patients had postoperative motor paralysis caused by C5 or C6 nerve damage and no serious complications were seen


The Journal of Bone & Joint Surgery British Volume
Vol. 74-B, Issue 3 | Pages 469 - 470
1 May 1992
Rao B Taraknath V Sista V


Bone & Joint 360
Vol. 12, Issue 5 | Pages 34 - 36
1 Oct 2023

The October 2023 Spine Roundup. 360. looks at: Cutting through surgical smoke: the science of cleaner air in spinal operations; Unlocking success: key factors in thoracic spine decompression and fusion for ossification of the posterior longitudinal ligament; Deep learning algorithm for identifying cervical cord compression due to degenerative canal stenosis on radiography; Surgeon experience influences robotics learning curve for minimally invasive lumbar fusion; Decision-making algorithm for the surgical treatment of degenerative lumbar spondylolisthesis of L4/L5; Response to preoperative steroid injections predicts surgical outcomes in patients undergoing fusion for isthmic spondylolisthesis


The Journal of Bone & Joint Surgery British Volume
Vol. 93-B, Issue 1 | Pages 68 - 72
1 Jan 2011
Motosuneya T Maruyama T Yamada H Tsuzuki N Sakai H

We reviewed 75 patients (57 men and 18 women), who had undergone tension-band laminoplasty for cervical spondylotic myelopathy (42 patients) or compression myelopathy due to ossification of the posterior longitudinal ligament (33 patients) and had been followed for more than ten years. Clinical and functional results were estimated using the Japanese Orthopaedic Association score. The rate of recovery and the level of postoperative axial neck pain were also recorded. The pre- and post-operative alignment of the cervical spine (Ishihara curve index indicating lordosis of the cervical spine) and the range of movement (ROM) of the cervical spine were also measured. The mean rate of recovery of the Japanese Orthopaedic Association score at final follow-up was 52.1% (. sd. 24.6) and significant axial pain was reported by 19 patients (25.3%). Axial pain was reported more frequently in patients with ossification of the posterior longitudinal ligament than in those with cervical spondylotic myelopathy (p = 0.027). A kyphotic deformity was not seen post-operatively in any patient. The mean ROM decreased post-operatively from 32.8° (. sd. 12.3) to 16.2° (. sd. 12.3) (p < 0.001). The mean ROM ratio was 46.9% (. sd. 28.1) for all the patients. The mean ROM ratio was lower in patients with ossification of the posterior longitudinal ligament than in those with cervical spondylotic myelopathy (p < 0.001). Compared to those with cervical spondylotic myelopathy, patients with ossification of the posterior longitudinal ligament had less ROM and more post-operative axial neck pain


The Bone & Joint Journal
Vol. 103-B, Issue 1 | Pages 157 - 163
1 Jan 2021
Takenaka S Kashii M Iwasaki M Makino T Sakai Y Kaito T

Aims. This study, using a surgeon-maintained database, aimed to explore the risk factors for surgery-related complications in patients undergoing primary cervical spine surgery for degenerative diseases. Methods. We studied 5,015 patients with degenerative cervical diseases who underwent primary cervical spine surgery from 2012 to 2018. We investigated the effects of diseases, surgical procedures, and patient demographics on surgery-related complications. As subcategories, the presence of cervical kyphosis ≥ 10°, the presence of ossification of the posterior longitudinal ligament (OPLL) with a canal-occupying ratio ≥ 50%, and foraminotomy were selected. The surgery-related complications examined were postoperative upper limb palsy (ULP) with a manual muscle test (MMT) grade of 0 to 2 or a reduction of two grade or more in the MMT, neurological deficit except ULP, dural tear, dural leakage, surgical-site infection (SSI), and postoperative haematoma. Multivariate logistic regression analysis was performed. Results. The significant risk factors (p < 0.050) for ULP were OPLL (odds ratio (OR) 1.88, 95% confidence interval (CI) 1.29 to 2.75), foraminotomy (OR 5.38, 95% CI 3.28 to 8.82), old age (per ten years, OR 1.18, 95% CI 1.03 to 1.36), anterior spinal fusion (OR 2.85, 95% CI 1.53 to 5.34), and the number of operated levels (OR 1.25, 95% CI 1.11 to 1.40). OPLL was also a risk factor for neurological deficit except ULP (OR 5.84, 95% CI 2.80 to 12.8), dural tear (OR 1.94, 95% CI 1.11 to 3.39), and dural leakage (OR 3.15, 95% CI 1.48 to 6.68). Among OPLL patients, dural tear and dural leakage were frequently observed in those with a canal-occupying ratio ≥ 50%. Cervical rheumatoid arthritis (RA) was a risk factor for SSI (OR 10.1, 95% CI 2.66 to 38.4). Conclusion. The high risk of ULP, neurological deficit except ULP, dural tear, and dural leak should be acknowledged by clinicians and OPLL patients, especially in those patients with a canal-occupying ratio ≥ 50%. Foraminotomy and RA were dominant risk factors for ULP and SSI, respectively. An awareness of these risks may help surgeons to avoid surgery-related complications in these conditions. Cite this article: Bone Joint J 2021;103-B(1):157–163


Orthopaedic Proceedings
Vol. 90-B, Issue SUPP_III | Pages 482 - 482
1 Aug 2008
Muthian S Ahmed E
Full Access

Ossification of the posterior longitudinal ligament (OPLL) is a condition found predominantly in the oriental population and is rarely seen in non orientals. OPLL can present with cervical canal stenosis and myelopathy (including central cord syndrome), often following minor trauma. Co-existence of OPLL with diffuse idiopathic skeletal hyperostosis (DISH) is a rare condition and very few reports of such patients exist in literature. Here we report the case of a Caucasian with co-existing DISH and OPLL, presenting with acute central cord syndrome associated with fracture of the ossification. A 64 year old Caucasian farmer was transferred to our spinal unit with weakness in the right upper limb following a road traffic accident. On examination he had hyperaesthesia in both upper limbs and motor power of grade 4 in the right upper limb with a distal motor power of grade 3 in the hand. There was no motor deficit in the left upper limb or lower limbs. Radiographs revealed an ossification of the posterior longitudinal ligament with a break at C2 and C3 levels. He also had exuberant soft tissue ossification in the cervical and thoracic spines, suggestive of diffuse idiopathic skeletal hyperostosis (DISH). He recovered completely in 6 weeks with non operative treatment. Fracture of the posterior longitudinal ligament has not been widely reported, although it is possibly more prevalent than is recognised. We report this case in order to highlight the importance of recognising this condition in non oriental populations and to demonstrate that non operative treatment has a good prognosis


The Journal of Bone & Joint Surgery British Volume
Vol. 80-B, Issue 5 | Pages 846 - 849
1 Sep 1998
Dai LY Ni B Yuan W Jia LS

Postoperative radiculopathy is a complication of posterior cervical decompression associated with tethering of the nerve root. We reviewed retrospectively 287 consecutive patients with cervical compression myelopathy who had been treated by multilevel cervical laminectomy and identified 37 (12.9%) with postoperative radiculopathy. There were 27 men and ten women with a mean age of 56 years at the time of operation. The diagnosis was either cervical spondylosis (25 patients) or ossification of the posterior longitudinal ligament (12 patients). Radiculopathy was observed from four hours to six days after surgery. The most frequent pattern of paralysis was involvement of the C5 and C6 roots of the motor-dominant type. The mean time for recovery was 5.4 months (two weeks to three years). The results at follow-up showed that the rate of motor recovery was negatively related to the duration of complete recovery of postoperative radiculopathy (γ = −0.832, p < 0.01) and that patients with spondylotic myelopathy had a significantly better rate of clinical recovery than those with ossification of the posterior longitudinal ligament (t = 2.960, p < 0.01). Postoperative radiculopathy may be prevented by carrying out an anterior decompression in conjunction with spinal fusion, which will achieve stabilisation and directly remove compression of the cord at multiple levels


The Journal of Bone & Joint Surgery British Volume
Vol. 87-B, Issue 10 | Pages 1375 - 1379
1 Oct 2005
Mizuno J Nakagawa H Song J

Seven men with a mean age of 63.9 years (59 to 67) developed dysphagia because of oesophageal compression with ossification of the anterior longitudinal ligament (OALL) and radiculomyelopathy due to associated stenosis of the cervical spine. The diagnosis of OALL was made by plain lateral radiography and classified into three types; segmental, continuous and mixed. Five patients had associated OALL in the thoracic and lumbar spine without ossification of the ligamentum flavum. All underwent removal of the OALL and six had simultaneous decompression by removal of ossification of the posterior longitudinal ligament or a bony spur. All had improvement of their dysphagia. Because symptomatic OALL may be associated with spinal stenosis, precise neurological examination is critical. A simultaneous microsurgical operation for patients with OALL and spinal stenosis gives good results without serious complications


The Journal of Bone & Joint Surgery British Volume
Vol. 91-B, Issue 8 | Pages 1058 - 1063
1 Aug 2009
Higashino K Sairyo K Katoh S Nakano S Enishi T Yasui N

The effect of rheumatoid arthritis on the anatomy of the cervical spine has not been clearly documented. We studied 129 female patients, 90 with rheumatoid arthritis and 39 with other pathologies (the control group). There were 21 patients in the control group with a diagnosis of cervical spondylotic myelopathy, and 18 with ossification of the posterior longitudinal ligament. All had plain lateral radiographs taken of the cervical spine as well as a reconstructed CT scan. The axial diameter of the width of the pedicle, the thickness of the lateral mass, the height of the isthmus and internal height were measured. The transverse diameter of the transverse foramen (d1) and that of the spinal canal (d2) were measured, and the ratio d1/d2 calculated. The width of the pedicles and the thickness of the lateral masses were significantly less in patients with rheumatoid arthritis than in those with other pathologies. The area of the transverse foramina in patients with rheumatoid arthritis was significantly greater than that in the other patients. The ratio of d1 to d2 was not significantly different. A high-riding vertebral artery was noted in 33.9% of the patients with rheumatoid arthritis and in 7.7% of those with other pathologies. This difference was statistically significant. In the rheumatoid group there was a significant correlation between isthmus height and vertical subluxation and between internal height and vertical subluxation


The Journal of Bone & Joint Surgery British Volume
Vol. 80-B, Issue 6 | Pages 1005 - 1008
1 Nov 1998
Wang J Roh K Kim D Kim D

We treated 12 patients with multilevel stenosis of the cervical canal after spondylosis or ossification of the posterior longitudinal ligament by an expansive open-door laminoplasty, stabilised by using an anchor system. The preoperative sagittal diameter of the canal was 9.8 mm(±2.2) which was increased to 16.1 mm (±2.9) after surgery. The mean expansion ratio of the canal was 64% (42 to 100). The anchoring systems did not fail during the follow-up period (mean 29.5 months), and the decompression was maintained. The use of anchor systems to stabilise the posterior elements after laminoplasty is a simple and effective technique for maintaining the increased sagittal diameter of the canal


The Journal of Bone & Joint Surgery British Volume
Vol. 75-B, Issue 3 | Pages 410 - 415
1 May 1993
Smith M Emery S Dudley A Murray K Leventhal M

Ten patients who suffered iatrogenic injury to a vertebral artery during anterior cervical decompression were reviewed to assess the mechanisms of injury, their operative management, and the subsequent outcome. All had been undergoing a partial vertebral body resection for spondylitic radiculopathy or myelopathy (4), tumour (2), ossification of the posterior longitudinal ligament (1), nonunion of a fracture (2), or osteomyelitis (1). The use of an air drill had been responsible for most injuries. The final control of haemorrhage had been by tamponade (3), direct exposure and electrocoagulation (1), transosseous suture (2), open suture (1), or open placement of a haemostatic clip (3). Five patients had postoperative neurological deficits, but most of them resolved. We found direct arterial exposure and control to be safe, quick and reliable. Careful use of the air drill, particularly in pathologically weakened bone, as in infection or tumour, is essential. Arterial injury is best avoided by a thorough knowledge of the anatomical relationships of the artery, the spinal canal, and the vertebral body


Orthopaedic Proceedings
Vol. 85-B, Issue SUPP_I | Pages 33 - 33
1 Jan 2003
Morio Y Teshima R Nagashima H Nawata K Yamasaki D Nanjo Y
Full Access

Signal intensity changes of the spinal cord on MRI in chronic cervical myelopathy are thought to be indicative of the prognosis. However, the prognostic significance of signal intensity change remains controversial. The purpose of this study was to investigate the characteristics of MR findings in cervical compression myelopathy that reflect the clinical symptoms and the prognosis and to determine the radiographical and clinical factors that correlate to the prognosis. The subjects were 73 patients who underwent cervical expansive laminoplasty. Their mean age was 64 years, and the mean postoperative follow-up was 3.4 years. The pathological conditions were cervical spondylotic myelopathy in 42 and ossification of the posterior longitudinal ligament in 31.MRI (spin-echo sequence) was performed in all patients. Three patterns of spinal cord signal intensity changes on T1-weighted sequences/T2-weighted sequences were detected as follows: normal/ normal. (N/N); normal/ high signal intensity changes (N/Hi); and low signal intensity changes/high signal intensity changes (Lo/Hi). Surgical outcomes were compared among these three groups. The most useful combination of parameters for predicting prognosis was determined. There were 2 patients with N/N, 67 with N/Hi and 4 with Lo/Hi signal change patterns before surgery. Regarding postoperative recovery, the preoperative Lo/Hi group was significantly inferior to the preoperative N/Hi group. The best combination of predictors for surgical outcomes included age, preoperative signal pattern and duration of symptoms. The low signal intensity changes on T1-weighted sequences indicated a poor prognosis. We speculate that high signal intensity changes on T2-weighted images include a broad spectrum of compressive myelomalacid pathologies and reflect a broad spectrum of recuperative potentials of the spinal cord. Predictors for surgical outcomes are preoperative signal intensity change pattern of the spinal cord on radiological evaluations, age at the time of surgery and chronicity of the disease


Orthopaedic Proceedings
Vol. 94-B, Issue SUPP_XLIV | Pages 28 - 28
1 Oct 2012
Takemoto M Neo M Fujibayashi S Okamoto T Ota E Sakamoto T Nakamura T
Full Access

The accuracy of pedicle screw placement is essential for successful spinal reconstructive surgery. The authors of several previous studies have described the use of image-based navigational templates for pedicle screw placement. These are designed based on a pre-operative computed tomographic (CT) image that fits into a unique position on an individual's bone, and holes are carefully designed to guide the drill or the pedicle probe through a pre-planned trajectory. The current study was conducted to optimise navigational template design and establish its designing method for safe and accurate pedicle screw placement. Thin-section CT scans were obtained from 10 spine surgery patients including 7 patients with adolescent idiopathic scoliosis (AIS) and three with thoracic ossification of the posterior longitudinal ligament (OPLL). The CT image data were transferred to the commercially available image-processing software and were used to reconstruct a three-dimensional (3D) model of the bony structures and plan pedicle screw placement. These data were transferred to the 3D-CAD software for the design of the template. Care was taken in designing the template so that the best intraoperative handling would be achieved by choosing several round contact surfaces on the visualised posterior vertebral bony structure, such as transverse process, spinous process and lamina. These contact surfaces and holes to guide the drill or the pedicle probe were then connected by a curved pipe. STL format files for the bony models with planned pedicle screw holes and individual templates were prepared for rapid prototype fabrication of the physical models. The bony models were made using gypsum-based 3D printer and individual templates were fabricated by a selective laser melting machine using commercially pure titanium powder. Pedicle screw trajectory of the bony model, adaptation and stability of the template on the bony model, and screw hole orientation of the template were evaluated using physical models. Custom-made titanium templates with adequate adaptation and stability in addition to proper orientation of the screw holes were sterilised by autoclave and evaluated during surgery. During segmentation, reproducibility of transverse and spinous processes were inferior to the lamina and considered inadequate to select as contact surfaces. A template design with more bone contact area might enhance the stability of the template on the bone but it is susceptible to intervening soft tissue and geometric inaccuracy of the template. In the bony model evaluation, the stability and adaptation of the templates were sufficient with few small round contact surfaces on each lamina; thus, a large contact surface was not necessary. In clinical patients, proper fit for positioning the template was easily found manually during the operation and 141/142 screws were inserted accurately with 1 insignificant pedicle wall breach in AIS patient. This study provides a useful design concept for the development and introduction of custom-fit navigational template for placing pedicle screws easily and safely


Bone & Joint Research
Vol. 12, Issue 6 | Pages 387 - 396
26 Jun 2023
Xu J Si H Zeng Y Wu Y Zhang S Shen B

Aims

Lumbar spinal stenosis (LSS) is a common skeletal system disease that has been partly attributed to genetic variation. However, the correlation between genetic variation and pathological changes in LSS is insufficient, and it is difficult to provide a reference for the early diagnosis and treatment of the disease.

Methods

We conducted a transcriptome-wide association study (TWAS) of spinal canal stenosis by integrating genome-wide association study summary statistics (including 661 cases and 178,065 controls) derived from Biobank Japan, and pre-computed gene expression weights of skeletal muscle and whole blood implemented in FUSION software. To verify the TWAS results, the candidate genes were furthered compared with messenger RNA (mRNA) expression profiles of LSS to screen for common genes. Finally, Metascape software was used to perform enrichment analysis of the candidate genes and common genes.


Bone & Joint Research
Vol. 12, Issue 1 | Pages 80 - 90
20 Jan 2023
Xu J Si H Zeng Y Wu Y Zhang S Liu Y Li M Shen B

Aims

Degenerative cervical spondylosis (DCS) is a common musculoskeletal disease that encompasses a wide range of progressive degenerative changes and affects all components of the cervical spine. DCS imposes very large social and economic burdens. However, its genetic basis remains elusive.

Methods

Predicted whole-blood and skeletal muscle gene expression and genome-wide association study (GWAS) data from a DCS database were integrated, and functional summary-based imputation (FUSION) software was used on the integrated data. A transcriptome-wide association study (TWAS) was conducted using FUSION software to assess the association between predicted gene expression and DCS risk. The TWAS-identified genes were verified via comparison with differentially expressed genes (DEGs) in DCS RNA expression profiles in the Gene Expression Omnibus (GEO) (Accession Number: GSE153761). The Functional Mapping and Annotation (FUMA) tool for genome-wide association studies and Meta tools were used for gene functional enrichment and annotation analysis.