ArticleEuropean spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society2021
Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population.
Article in European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Article
- Degenerative Thoracic Myelopathy: A Scoping Review of Epidemiology, Genetics, and Pathogenesis.Global spine journal · 2024Article
- Lumbar ossification of the ligamentum flavum reflects a strong ossification tendency of the entire spinal ligament.Scientific reports · 2023Article
- Deciphering Obesity-Related Gene Clusters Unearths SOCS3 Immune Infiltrates and 5mC/m6A Modifiers in Ossification of Ligamentum Flavum Pathogenesis.Frontiers in endocrinology · 2022Article
- Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review.Frontiers in genetics · 2022Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGenetic factors play a crucial role in thoracic ossification of the ligamentum flavum (TOLF). This study aimed to better understand the association between single nucleotide polymorphisms (SNP) in functional regions of the collagen VI, alpha 1 gene (COL6A1) and TOLF, and to confirm COL6A1 as a TOLF susceptibility gene.
methodsTen tag SNPs in COL6A1 were genotyped using the SNaPshot assay, and allele and genotype frequencies were compared between TOLF patients and control individuals. The function of SNPs associated with disease was studied. For COL6A1 promoter SNPs, the transcriptional activity of each haplotype was determined by luciferase reporter assays. For COL6A1 exonic SNPs, the effect of nucleotide substitutions on COL6A1 expression was determined by western blotting. COL6A1 mRNA expression in ligamentum flavum tissues from TOLF patients with different genotypes was examined using reverse transcription real-time PCR.
resultsFour SNPs were associated or possibly associated with TOLF, with higher pathogenic allele and genotype frequencies seen in TOLF patients compared with controls. The rs17551710/rs7671-GG/GG genotype appeared to be related to disease severity. Nucleotide substitutions at rs17551710 and rs7671 increased COL6A1 transcriptional activity and nucleotide substitutions at rs1053312 and rs13051496 increased COL6A1 protein expression. COL6A1 mRNA expression was significantly up-regulated in individuals with rs17551710/rs7671-GG/GG and rs1053312/rs13051496-AA+AG/CC genotypes compared with other genotypes.
conclusionSNPs in the COL6A1 promoter and exonic regions are associated with TOLF in the Chinese Han population, and lead to up-regulated COL6A1 expression. We confirmed COL6A1 as a TOLF susceptibility gene that may be involved in TOLF pathology.
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