ArticleEuropean spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society2015
Association of collagen I, IX and vitamin D receptor gene polymorphisms with radiological severity of intervertebral disc degeneration in Southern European Ancestor.
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, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 5 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 5 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Association between polymorphisms of collagen genes and susceptibility to intervertebral disc degeneration: a meta-analysis.Journal of orthopaedic surgery and research · 2021Pooled it
- The role of single nucleotide polymorphisms ofF1000Research · 2021Pooled it
- Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis.BMC musculoskeletal disorders · 2018Pooled it
- Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.Journal of orthopaedic surgery and research · 2018Pooled it
- 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
- Review
- Dasatinib and quercetin senolytic treatment delays early onset intervertebral disc degeneration in SM/J mice.Bone research · 2026Article
- Dasatinib and quercetin senolytic treatment delays early onset intervertebral disc degeneration in SM/J mice.Research square · 2025Article
- Lipid metabolic disorders and their impact on cartilage endplate and nucleus pulposus function in intervertebral disk degeneration.Frontiers in nutrition · 2025Review
- The Role of Collagen Genetic Variability in Degenerative Disc Disease and Related Conditions.Current genomics · 2025Review
- A new perspective on intervertebral disc calcification-from bench to bedside.Bone research · 2024Review
- A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.Journal of orthopaedic surgery and research · 2024Article
- Biomarkers for intervertebral disc and associated back pain: From diagnosis to disease prognosis and personalized treatment.JOR spine · 2023Review
- Protocol for Biospecimen Collection and Analysis Within the BACPAC Research Program.Pain medicine (Malden, Mass.) · 2023Article
- Are serum thyroid hormone, parathormone, calcium, and vitamin D levels associated with lumbar spine degeneration? A cross-sectional observational clinical study.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
- Intervertebral disc degeneration-Current therapeutic options and challenges.Frontiers in public health · 2023Review
- Genetic variants of interleukin 1B and 6 are associated with clinical outcome of surgically treated lumbar degenerative disc disease.BMC musculoskeletal disorders · 2022Article
- Influence of Pregnancy on the Occurrence of Lumbar Spine Pain in Polish Women: A Retrospective Study.Journal of personalized medicine · 2022Article
- Pathomechanism and Biomechanics of Degenerative Disc Disease: Features of Healthy and Degenerated Discs.International journal of spine surgery · 2021Article
- Association of Single Nucleotide Polymorphism rs2228570 with Lumbar Disc Degeneration: A Case-Control Study and Meta-Analysis.Journal of pain research · 2021Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeSeveral genomic loci have been previously found to be associated with intervertebral disc degeneration, so far. Data are mostly derived from northern European countries whereas data derived from Southern European Ancestor are limited. This study aimed to evaluate the association between radiological disease severity of lumbar disc degeneration and certain genetic loci in a sample of participants from Southern Europe.
methodsSeventy-five patients with mild to severe lumbar disc degeneration and 25 healthy controls were enrolled into the study. In each subject, each lumbar intervertebral disc was separately examined to obtain a total radiological score for disease severity. In addition, single-nucleotide polymorphisms of predefined genetic samples were analyzed in all participants: COL1A1 Sp1, COL9a2 Trp2, COL9a3 Trp3, and VDR TaqI.
resultsDegeneration scores were significantly worse in cases with COL1A1 Sp1, COL9a3 Trp3, and VDR TaqI mutations; however, COL9a2 Trp2 mutation was not associated with a difference in the severity of disc degeneration. In addition, subjects with mutation in more than one gene sample (n = 20) had significantly worse degeneration scores than the remaining study participants (n = 80) (17.70 ± 2.72 vs. 21.81 ± 1.81, p < 0.001).
conclusionSingle-nucleotide polymorphisms occurring in COL1A1, COL9a3 and VDR genes seem to be associated with the development of lumbar disc degeneration in this cohort, possibly with even more pronounced association when multiple mutations are present in the same individual. By further prospective twin studies in associated genes and analyses of their relationship with environmental factors in an internationally sampled large cohort will make a more clear-minded conclusion about their association with disc degeneration, which would yield better appreciation and clinical planning of some predisposed people for these pathologies.
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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.