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. 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.Aims
Methods
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. 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.Aims
Methods
Cervical spondylosis is often accompanied by dizziness. It has
recently been shown that the ingrowth of Ruffini corpuscles into
diseased cervical discs may be related to cervicogenic dizziness.
In order to evaluate whether cervicogenic dizziness stems from the
diseased cervical disc, we performed a prospective cohort study
to assess the effectiveness of anterior cervical discectomy and
fusion on the relief of dizziness. Of 145 patients with cervical spondylosis and dizziness, 116
underwent anterior cervical decompression and fusion and 29 underwent
conservative treatment. All were followed up for one year. The primary
outcomes were measures of the intensity and frequency of dizziness.
Secondary outcomes were changes in the modified Japanese Orthopaedic
Association (mJOA) score and a visual analogue scale score for neck
pain.Aims
Patients and Methods
