ReviewEuropean spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society2014
Genetics of disc-related disorders: current findings and lessons from other complex diseases.
Review 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, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Vitamin D receptor gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.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 · 2017Pooled it
- A Cross-Tissue Transcriptome-Wide Association Study Identified Susceptibility Genes for Intervertebral Disc Degeneration.JOR spine · 2025Article
- Article
- Neuroinflammation at the Neuroforamina and Spinal Cord in Patients with Painful Cervical Radiculopathy and Pain-Free Participants: An [Journal of clinical medicine · 2025Article
- What does degeneration at the cervicothoracic junction tell us? A kinematic MRI study of 93 individuals.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 · 2023Article
- Integrated transcriptome and proteome analyses identify novel regulatory network of nucleus pulposus cells in intervertebral disc degeneration.BMC medical genomics · 2021Article
- Genetic Influence in Disc Degeneration - Systematic Review of Literature.Revista brasileira de ortopedia · 2020Article
- Article
- Article
- Clinical Relationship of Degenerative Changes between the Cervical and Lumbar Spine.Asian spine journal · 2018Article
- Sequencing and bioinformatics analysis of the differentially expressed genes in herniated discs with or without calcification.International journal of molecular medicine · 2017Article
- Cervical radiculopathy.Current reviews in musculoskeletal medicine · 2016Review
- Article
- Lumbar spinal stenosis is a highly genetic condition partly mediated by disc degeneration.Arthritis & rheumatology (Hoboken, N.J.) · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disc-related disorders are highly genetic conditions with heritability estimates of up to 75 % and yet, few genomic locations have been moderately associated with the disorders. Candidate gene studies have shown possible disease associations on loci and genes of 1p21.1 (COL11A1), 6q27 (THBS2), 9q22.31 (ASPN), 10p12.31 (SKT), 20q11.2 (GDF5) and 20q13.12 (MMP9). More recently, in 2012, the first genome-wide association study revealed variants on loci and genes of 3p26.2, 6p21.32 (HLA region) and 6q26 (PARK2) that associate with disc-related disorders. In many other complex diseases, large meta-analyses of hundreds of thousands of study subjects and loci have revealed remarkable pathways. As methodology is evolving rapidly, we have already stepped into the era of routinely sequencing all bases in all human exons and we are approaching the era of sequencing the entire genome of study subjects with common diseases. The past decade has taught us that the common variants seen throughout populations seem to have low effects in many common diseases, explain relatively little of the overall heritability of the diseases and demand thousands of study subjects to identify associations. It seems that familial rare variants play an important role in many common diseases leading us back to valuing studies with large families and isolated populations. Moreover, careful characterization of environmental conditions are needed to explore and determine gene-environment interactions as genes that increase disease risk in one context may not do so under another context.
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Registered trials
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.