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Transcriptome-Wide Association Study Reveals Candidate Causal Genes For Lumbar Spinal Stenosis London Spine Lumbar Stenosis

The article discusses a study that aimed to investigate the correlation between genetic variation and pathological changes in lumbar spinal stenosis (LSS), a common skeletal system disease. The researchers conducted a transcriptome-wide association study (TWAS) by analyzing genome-wide association study data and gene expression weights from skeletal muscle and whole blood. They identified several genes associated with LSS and found overlapping genes with differentially expressed genes in LSS. The study also performed enrichment analysis and identified gene ontology terms and pathways associated with LSS. Overall, the study provides insights into the genetic mechanism of LSS, which could potentially contribute to early diagnosis and intervention of the disease

Summarised by Mr Mo Akmal – Lead Spinal Surgeon
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Published article

This study revealed the genetic mechanism behind the pathological changes in LSS, and may provide novel insights for the early diagnosis and intervention of LSS.

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Abstract 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,

Abstract

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.

Results: TWAS identified 295 genes with permutation p-values < 0.05 for skeletal muscle and 79 genes associated for the whole blood, such as RCHY1 (PTWAS = 0.001). Those genes were enriched in 112 gene ontology (GO) terms and five Kyoto Encyclopedia of Genes and Genomes pathways, such as ‘chemical carcinogenesis – reactive oxygen species’ (LogP value = -2.139). Further comparing the TWAS significant genes with the differentially expressed genes identified by mRNA expression profiles of LSS found 18 overlapped genes, such as interleukin 15 receptor subunit alpha (IL15RA) (PTWAS = 0.040, PmRNA = 0.010). Moreover, 71 common GO terms were detected for the enrichment results of TWAS and mRNA expression profiles, such as negative regulation of cell differentiation (LogP value = -2.811).

This study revealed the genetic mechanism behind the pathological changes in LSS, and may provide novel insights for the early diagnosis and intervention of LSS.

The London Spine Unit : the highest rated day surgery hospital on Harley Street UK

Read the original publication:

Transcriptome-wide association study reveals candidate causal genes for lumbar spinal stenosis

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Abstract 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

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