Evidence map›Paper›PMID 23185509›Full record

SynthesisPloS one2012

Genetic association studies in lumbar disc degeneration: a systematic review.

Pasi J Eskola, Susanna Lemmelä, Per Kjaer, Svetlana Solovieva, Minna Männikkö, Niels Tommerup, Allan Lind-Thomsen, Kirsti Husgafvel-Pursiainen, Kenneth M C Cheung, Danny Chan and 2 more

Open access · goldAbstract readSystematic Review
In one paragraph

Synthesis in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed, 3 pooled it
6.5field-weighted citation impact, top 3% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

53 citing papers in PubMed, 3 syntheses or guidelines pooled it, 104 citations in OpenAlex.

  1. Percutaneous transforaminal endoscopic discectomy in patients with lumbar disc herniation: a meta-analysis.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2025
    Pooled it
  2. Genetic variants related to physical activity or sedentary behaviour: a systematic review.The international journal of behavioral nutrition and physical activity · 2021
    Pooled it
  3. Pooled it
  4. Article
  5. Review
  6. CALM1 polymorphism in degenerative cervical myelopathy of the Indian cohort.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 · 2025
    Article
  7. Article
  8. A longitudinal population-based study identifies THBS2 as a susceptibility gene for intervertebral disc degeneration.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 · 2024
    Article
  9. Article
  10. Review
  11. Association betweenCell cycle (Georgetown, Tex.) · 2022
    Article
  12. Review
  13. Integrative analysis of metabolomic, genomic, and imaging-based phenotypes identify very-low-density lipoprotein as a potential risk factor for lumbar Modic changes.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 · 2022
    Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 6 institutions in 4 countries.

Pasi J EskolaOulu Center for Cell - Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland.
Susanna Lemmelä
Per Kjaer
Svetlana Solovieva
Minna Männikkö
Niels Tommerup
Allan Lind-Thomsen
Kirsti Husgafvel-Pursiainen
Kenneth M C Cheung
Danny Chan
Dino Samartzis
Jaro Karppinen
Finnish Institute of Occupational Health · FIUniversity of Copenhagen · DKUniversity of Hong Kong · HKUniversity of Oulu · FIChinese University of Hong Kong · CNLillebaelt Hospital · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveLow back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI) in humans.

methodsA systematic literature search was conducted in MEDLINE, MEDLINE In-Process, SCOPUS, ISI Web of Science, The Genetic Association Database and The Human Genome Epidemiology Network for information published between 1990-2011 addressing genes and lumbar disc degeneration. Two investigators independently identified studies to determine inclusion, after which they performed data extraction and analysis. The level of cumulative genetic association evidence was analyzed according to The HuGENet Working Group guidelines.

resultsFifty-two studies were included for review. Forty-eight studies reported at least one positive association between a genetic marker and lumbar disc degeneration. The phenotype definition of lumbar disc degeneration was highly variable between the studies and replications were inconsistent. Most of the associations presented with a weak level of evidence. The level of evidence was moderate for ASPN (D-repeat), COL11A1 (rs1676486), GDF5 (rs143383), SKT (rs16924573), THBS2 (rs9406328) and MMP9 (rs17576).

conclusionsBased on this first extensive systematic review on the topic, the credibility of reported genetic associations is mostly weak. Clear definition of lumbar disc degeneration phenotypes and large population-based cohorts are needed. An international consortium is needed to standardize genetic association studies in relation to disc degeneration.

Indexed as

Databases, GeneticGenetic Association StudiesIntervertebral Disc DegenerationIntervertebral Disc DisplacementGenetic Predisposition to DiseaseHumansLow Back PainMagnetic Resonance Imaging

Identifiers

PMID23185509
PMCPMC3503778
OpenAlexW2089430956

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.