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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.


The Journal of Bone & Joint Surgery British Volume
Vol. 92-B, Issue 9 | Pages 1282 - 1288
1 Sep 2010
Shen GW Wu NQ Zhang N Jin ZS Xu J Yin GY

This study prospectively compared the efficacy of kyphoplasty using a Jack vertebral dilator and balloon kyphoplasty to treat osteoporotic compression fractures between T10 and L5. Between 2004 and 2009, two groups of 55 patients each underwent vertebral dilator kyphoplasty and balloon kyphoplasty, respectively. Pain, function, the Cobb angle, and the anterior and middle height of the vertebral body were assessed before and after operation. Leakage of bone cement was recorded. The post-operative change in the Cobb angle was significantly greater in the dilator kyphoplasty group than in the balloon kyphoplasty group (−9.51° (sd 2.56) vs −7.78° (sd 1.19), p < 0.001)). Leakage of cement was less in the dilator kyphoplasty group. No other significant differences were found in the two groups after operation, and both procedures gave equally satisfactory results in terms of all other variables assessed. No serious complications occurred in either group.

These findings suggest that vertebral dilator kyphoplasty can facilitate better correction of kyphotic deformity and may ultimately be a safer procedure in reducing leakage of bone cement.