ArticleAmerican journal of human genetics2003
Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses that pooled it.
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Who cites it
62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 163 citations in OpenAlex.
- Surgical interventions for cervical spondylosis due to ossification of posterior longitudinal ligament: A meta-analysis.Medicine · 2017Pooled it
- A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.Nature genetics · 2014Pooled it
- Genetics and pathophysiology of diffuse idiopathic skeletal hyperostosis.Frontiers in endocrinology · 2026Review
- Possible involvement of vitamin K insufficiency in the progression of cervical ossification of the posterior longitudinal ligament.Scientific reports · 2025Article
- Impact of theFrontiers in endocrinology · 2025Article
- Radiographic characterization of OPLL progression in patients receiving laminoplasty with a minimum of two-years follow-up.Neurosurgical review · 2024Article
- Pathogenesis of thoracic ossification of the ligamentum flavum.Frontiers in pharmacology · 2024Review
- Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.Current osteoporosis reports · 2023Review
- TNFα-dependent mTOR activity is required for tenotomy-induced ectopic ossification in mice.Journal of bone and mineral metabolism · 2023Article
- A Multicenter Allelic Analysis of Diffuse Idiopathic Skeletal Hyperostosis: Nature Versus Nurture?Neurosurgery · 2023Article
- Towards Understanding the Key Signature Pathways Associated from Differentially Expressed Gene Analysis in an Indian Prostate Cancer Cohort.Diseases (Basel, Switzerland) · 2023Article
- Collagen VI in the Musculoskeletal System.International journal of molecular sciences · 2023Review
- High expression of COL6A1 predicts poor prognosis and response to immunotherapy in bladder cancer.Cell cycle (Georgetown, Tex.) · 2023Article
- Lumbar ossification of the ligamentum flavum reflects a strong ossification tendency of the entire spinal ligament.Scientific reports · 2023Article
- Exosomal miR-140-5p inhibits osteogenesis by targeting IGF1R and regulating the mTOR pathway in ossification of the posterior longitudinal ligament.Journal of nanobiotechnology · 2022Article
- In Silico Analysis of Collagens Missense SNPs and Human Abnormalities.Biochemical genetics · 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
- Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population.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 · 2021Article
- Non-coding RNAs in ossification of spinal ligament.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 · 2021Review
- Degenerative cervical myelopathy - update and future directions.Nature reviews. Neurology · 2020Review
2 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ossification of the posterior longitudinal ligament (OPLL) of the spine is a subset of "bone-forming" diseases, characterized by ectopic ossification in the spinal ligaments. OPLL is a common disorder among elderly populations in eastern Asia and is the leading cause of spinal myelopathy in Japan. We performed a genomewide linkage study with 142 affected sib pairs, to identify genetic loci related to OPLL. In multipoint linkage analysis using GENEHUNTER-PLUS, evidence of linkage to OPLL was detected on chromosomes 1p, 6p, 11q, 14q, 16q, and 21q. The best evidence of linkage was detected near D21S1903 on chromosome 21q22.3 (maximum Zlr=3.97); therefore, the linkage region was extensively investigated for linkage disequilibrium with single-nucleotide polymorphisms (SNPs) covering 20 Mb. One hundred fifty positional candidate genes lie in the region, and 600 gene-based SNPs were genotyped. There were positive allelic associations with seven genes (P<.01) in 280 patients and 210 controls, and four of the seven genes were clustered within a region of 750 kb, approximately 1.2 Mb telomeric to D21S1903. Extensive linkage disequilibrium and association studies of the four genes indicated that SNPs in the collagen 6A1 gene (COL6A1) were strongly associated with OPLL (P=.000003 for the SNP in intron 32 [-29]). Haplotype analysis with three SNPs in COL6A1 gave a single-point P value of.0000007. Identification of the locus of susceptibility to OPLL by genomewide linkage and linkage disequilibrium studies permits us to investigate the pathogenesis of the disease, which may lead to the development of novel therapeutic tools.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.