Spondylolisthesis
diseaseOn this page
Also known as spondylolisthesis (disease)
Summary
Spondylolisthesis (MONDO:0008475) is a disease with 26 GWAS associations across 19 studies and 129 clinical trials. Top therapeutic interventions include sodium chloride, dibotermin alfa, and ketamine. A subtype of disease of bone structure — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 26
- Clinical trials: 129
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | spondylolisthesis |
| Mondo ID | MONDO:0008475 |
| EFO | EFO:0007493 |
| MeSH | D013168 |
| OMIM | 184200 |
| DOID | DOID:6682 |
| ICD-10-CM | M43.1 |
| ICD-11 | 1075039772 |
| NCIT | C35033 |
| SNOMED CT | 274152003 |
| UMLS | C0038016 |
| MedGen | 52470 |
| Is cancer (heuristic) | no |
Also known as: spondylolisthesis · spondylolisthesis (disease)
Data availability: 26 GWAS associations (19 studies) · 1 HPO phenotype.
Disease family
This is a subtype of disease of bone structure. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › disease of bone structure › spondylolisthesis
Related subtypes (4): spondylosis, scoliosis, spondylolysis, spinal stenosis
Subtypes (1): Jaffer-Beighton syndrome
Genetics & variants
GWAS landscape
26 GWAS associations across 19 studies. Top hits map to 23 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs148052681 | 1e-12 | WWP1 | G | 3.72 |
| rs146016596 | 3e-12 | RUNX1 | T | 2.34 |
| rs370631638 | 4e-12 | RN7SL318P - RPL23AP54 | G | 3.04 |
| rs550904470 | 4e-12 | UBE2D1 - TFAM | G | 2.42 |
| rs567295257 | 4e-12 | REC114 | G | 3.92 |
| rs187028264 | 4e-12 | ADH7 | C | 2.9 |
| rs562746713 | 7e-12 | UGT1A4, UGT1A9, UGT1A8, UGT1A3, UGT1A6, UGT1A10, UGT1A5, UGT1A7 | G | 4.82 |
| rs188148506 | 1e-11 | NSMCE2 | G | 3.12 |
| rs555760304 | 1e-11 | RBMS3 | T | 2.76 |
| rs750579497 | 1e-11 | NMD3 - EEF1GP4 | A | 3.91 |
| rs573692988 | 1e-11 | RPL35AP3 - NHEG1 | C | 3.83 |
| rs184291254 | 2e-11 | EEF1A1P14 - RNU6-983P | T | 1.78 |
| rs562020915 | 2e-11 | RNU6-929P - BMP7 | T | 3.26 |
| rs927458589 | 2e-11 | ZNF385D | T | 3.4 |
| rs540416829 | 3e-11 | VTI1A | A | 3.17 |
| rs192018607 | 3e-11 | ZNF804B | T | 2.46 |
| rs555715126 | 4e-11 | DMGDH, BHMT2 | A | 3.08 |
| rs4074786 | 2e-09 | ANTXR1 - GFPT1 | ? | 1.21 |
| rs55718076 | 2e-09 | NFU1 | ? | 0.82 |
| rs10671071 | 2e-09 | NFU1 | ? | 0.82 |
| rs10051390 | 1e-08 | CXXC5 | ? | |
| rs187872082 | 1e-07 | RNU6-983P - LINC01724 | T | 1.66 |
| rs10127479 | 1e-07 | LINC01685 - HSPA5P1 | T | 0.91 |
| rs140480131 | 2e-07 | EN1 - MARCO | ? | |
| rs140407801 | 3e-07 | CLPS | C | 1.9 |
| rs74545403 | 4e-07 | TTC33 | T | 1.02 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90479009 | Verma A | 2024 | 4,995 | 437,972 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90652014 | Liu TY | 2025 | 2,717 | 231,760 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90281185 | Bovonratwet P | 2023 | 1,964 | 387,449 | Identification of Novel Genetic Markers for the Risk of Spinal Pathologies: A Genome-Wide Association Study of 2 Biobanks. |
| GCST90080474 | Backman JD | 2021 | 1,786 | 385,893 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084460 | Backman JD | 2021 | 1,786 | 385,893 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90651487 | Liu TY | 2025 | 1,740 | 227,954 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90479083 | Verma A | 2024 | 1,583 | 447,927 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436717 | Zhou W | 2018 | 1,521 | 394,914 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90479008 | Verma A | 2024 | 1,241 | 118,154 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481020 | Verma A | 2024 | 1,241 | 118,154 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 2 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 23 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 6 |
| low_freq (0.01-0.05) | 2 |
| rare (<0.01) | 17 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 14 |
| intergenic_variant | 9 |
| 5_prime_UTR_variant | 1 |
| 3_prime_UTR_variant | 1 |
| regulatory_region_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs148052681 | 8 | 86447664 | G>A | 0 | intron_variant | WWP1 | 1e-12 | Tier 4: intronic/intergenic |
| rs146016596 | 21 | 35629529 | T>C | 0.002 | intergenic_variant | RUNX1 | 3e-12 | Tier 4: intronic/intergenic |
| rs370631638 | 8 | 5302407 | G>A,T | 0.001 | intergenic_variant | RN7SL318P - RPL23AP54 | 4e-12 | Tier 4: intronic/intergenic |
| rs550904470 | 10 | 58373393 | G>A | 0.001 | intergenic_variant | UBE2D1 - TFAM | 4e-12 | Tier 4: intronic/intergenic |
| rs567295257 | 15 | 73488095 | G>A | 0.001 | intron_variant | REC114 | 4e-12 | Tier 4: intronic/intergenic |
| rs187028264 | 4 | 99416606 | C>T | 0.001 | intron_variant | ADH7 | 4e-12 | Tier 4: intronic/intergenic |
| rs562746713 | 2 | 233748386 | G>A | 0 | intron_variant | UGT1A4, UGT1A9, UGT1A8, UGT1A3, UGT1A6, UGT1A10, UGT1A5, UGT1A7 | 7e-12 | Tier 4: intronic/intergenic |
| rs188148506 | 8 | 125304585 | G>A | 0 | intron_variant | NSMCE2 | 1e-11 | Tier 4: intronic/intergenic |
| rs555760304 | 3 | 29832417 | T>C | 0.001 | intron_variant | RBMS3 | 1e-11 | Tier 4: intronic/intergenic |
| rs750579497 | 3 | 161289470 | A>G,T | 0 | intergenic_variant | NMD3 - EEF1GP4 | 1e-11 | Tier 4: intronic/intergenic |
| rs573692988 | 6 | 136977100 | C>T | 0 | intergenic_variant | RPL35AP3 - NHEG1 | 1e-11 | Tier 4: intronic/intergenic |
| rs184291254 | 1 | 194250867 | T>C | 0.001 | intron_variant | EEF1A1P14 - RNU6-983P | 2e-11 | Tier 4: intronic/intergenic |
| rs562020915 | 20 | 56898575 | T>C | 0.001 | intergenic_variant | RNU6-929P - BMP7 | 2e-11 | Tier 4: intronic/intergenic |
| rs927458589 | 3 | 22104971 | T>A,C,G | 0.002 | intron_variant | ZNF385D | 2e-11 | Tier 4: intronic/intergenic |
| rs540416829 | 10 | 112808641 | A>G | 0.001 | intron_variant | VTI1A | 3e-11 | Tier 4: intronic/intergenic |
| rs192018607 | 7 | 89151210 | T>C | 0.001 | intron_variant | ZNF804B | 3e-11 | Tier 4: intronic/intergenic |
| rs555715126 | 5 | 79069644 | A>G | 0 | 5_prime_UTR_variant | DMGDH, BHMT2 | 4e-11 | Tier 2: splice/UTR |
| rs4074786 | 2 | 69305668 | C>G | 0.05 | intron_variant | ANTXR1 - GFPT1 | 2e-09 | Tier 4: intronic/intergenic |
| rs55718076 | 2 | 69423168 | A>C,G,T | 0.05 | intron_variant | NFU1 | 2e-09 | Tier 4: intronic/intergenic |
| rs10671071 | 2 | 69432781 | T>TACC | 0.05 | intron_variant | NFU1 | 2e-09 | Tier 4: intronic/intergenic |
| rs10051390 | 5 | 139683743 | G>A | 0.05 | 3_prime_UTR_variant | CXXC5 | 1e-08 | Tier 2: splice/UTR |
| rs187872082 | 1 | 196013554 | C>T | 0.017 | intergenic_variant | RNU6-983P - LINC01724 | 1e-07 | Tier 4: intronic/intergenic |
| rs10127479 | 1 | 38647846 | C>G,T | 0.118 | intergenic_variant | LINC01685 - HSPA5P1 | 1e-07 | Tier 4: intronic/intergenic |
| rs140480131 | 2 | 118883081 | C>T | regulatory_region_variant | EN1 - MARCO | 2e-07 | Tier 3: regulatory | |
| rs140407801 | 6 | 35796781 | A>C | 0.011 | intron_variant | CLPS | 3e-07 | Tier 4: intronic/intergenic |
| rs74545403 | 5 | 40528574 | C>T | 0.074 | intergenic_variant | TTC33 | 4e-07 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Eptotermin Alfa | Approved (phase 4) |
Clinical trials & evidence
Clinical trials
Clinical trials: 129.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 110 |
| PHASE4 | 8 |
| PHASE3 | 4 |
| PHASE1/PHASE2 | 4 |
| PHASE2 | 2 |
| PHASE2/PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00000409 | PHASE4 | COMPLETED | Spine Patient Outcomes Research Trial (SPORT): Degenerative Spondylolisthesis With Spinal Stenosis |
| NCT00095095 | PHASE4 | TERMINATED | Lumbar Interbody Fusion Using the Telamon® Peek™ Versus the Telamon® Hydrosorb™ Fusion Device |
| NCT00493558 | PHASE4 | COMPLETED | Spine Research With Roentgen Stereophotogrammetric Analysis |
| NCT01325493 | PHASE4 | COMPLETED | Low Dose Ketamine Study on Opioid Tolerance and Hyperalgesia |
| NCT02464813 | PHASE4 | COMPLETED | Effect of Pregabalin on Immediate Post-operative and Longterm Pain |
| NCT03077204 | PHASE4 | COMPLETED | BIO4 Clinical Case Study: Cervical Spine |
| NCT03514277 | PHASE4 | TERMINATED | A Prospective Study to Compare Bupivacaine and Exparel Versus Bupivacaine or Exparel Alone for Postoperative Pain Relief |
| NCT05345249 | PHASE4 | COMPLETED | Erector Spinae Plane Block as Pain Management After Lumbar Fusion Surgery |
| NCT00109213 | PHASE3 | COMPLETED | Greenwich Lumbar Stenosis SLIP Study |
| NCT00405691 | PHASE3 | COMPLETED | Safety and Effectiveness Study of the TOPS System, a Total Posterior Arthroplasty Implant Designed to Alleviate Pain Resulting From Moderate to Severe Lumbar Stenosis |
| NCT00418197 | PHASE3 | UNKNOWN | Total Facet Arthroplasty System®(TFAS®) Clinical Trial |
| NCT02854904 | PHASE2/PHASE3 | UNKNOWN | Immune Effect of Dexmedetomidine in Patients Undergoing to Spinal Fusion |
| NCT03513445 | PHASE3 | WITHDRAWN | Peri-Incisional Drug Injection in Lumbar Spine Surgery |
| NCT00549913 | PHASE1/PHASE2 | COMPLETED | Study of 3 Doses of NeoFuse Combined With MasterGraft Granules in Subjects Requiring Posterolateral Lumbar Fusion (PLF) |
| NCT00798239 | PHASE1/PHASE2 | UNKNOWN | Pilot Study to Assess Safety/Prelimary Effectiveness of Prefix in Subjects With Degenerative Disc Disease (DDD) Undergoing Spine Fusion Surgery |
| NCT00798902 | PHASE1/PHASE2 | UNKNOWN | Pilot Study to Assess Safety/Preliminary Effectiveness of Prefix in Subjects With Degenerative Disc Disease (DDD) Undergoing Spine Fusion Surgery |
| NCT01123850 | PHASE2 | TERMINATED | CopiOs Posterolateral Fusion Procedure |
| NCT02884440 | PHASE2 | COMPLETED | Transverse Abdominis Plane Block for Anterior Approach Spine Surgery |
| NCT03100032 | PHASE1/PHASE2 | COMPLETED | Safety and Preliminary Effectiveness of NVD-001 for the Treatment of Low Grade Degenerative Lumbar Spondylolisthesis |
| NCT03398915 | Not specified | ACTIVE_NOT_RECRUITING | The European Robotic Spinal Instrumentation (EUROSPIN) Study |
| NCT03649490 | Not specified | ENROLLING_BY_INVITATION | Advanced Materials Science in XLIF Study |
| NCT03810573 | Not specified | RECRUITING | Evaluation of NB1 Bone Graft Following Lumbar Interbody Arthrodesis |
| NCT03883022 | Not specified | RECRUITING | Vancomycin Powder Combined With Autogenous Bone Graft as a Prevention for Post-operative Infection for Spine Surgery |
| NCT03956537 | Not specified | ACTIVE_NOT_RECRUITING | PMCF Neo Pedicle Screw and Cage Systems |
| NCT04204135 | Not specified | ENROLLING_BY_INVITATION | The Course of Hip Flexion Weakness Following LLIF or ALIF |
| NCT04615260 | Not specified | ACTIVE_NOT_RECRUITING | Rate of Bony Fusion Using NanoBone® Synthetic Bone Graft Versus Local Autologous Bone Graft. |
| NCT04684901 | Not specified | ENROLLING_BY_INVITATION | Effectiveness of AlloWrap® for the Reduction of Inflammation in ACDF Procedures |
| NCT05071144 | Not specified | RECRUITING | Advanced SPinal Innovations With Robotics and Enabling Technology Registry |
| NCT05182489 | Not specified | ACTIVE_NOT_RECRUITING | Adaptix RCT Evaluating Adaptix™ Versus PEEK Cages |
| NCT05237908 | Not specified | ACTIVE_NOT_RECRUITING | Clinical Outcome and Fusion Rate of 3D Printed Interbody Fusion Cages and Titanium Coated PEEK Cages |
| NCT05238740 | Not specified | RECRUITING | Comparison of Radiographic Fusion Rate and Clinical Outcome of ALIF and XLIF Performed With Either Recombinant Human Bone Morphogenetic Protein-2 or ViviGen® |
| NCT05306665 | Not specified | RECRUITING | PREventing Pain After Surgery |
| NCT05366140 | Not specified | RECRUITING | Thoracic-Lumbar Arthrodesis- Implanet Jazz |
| NCT05565456 | Not specified | ACTIVE_NOT_RECRUITING | Intercorporal Bone Graft Measurement Study |
| NCT05583864 | Not specified | ACTIVE_NOT_RECRUITING | Lumbar Fusion With Porous Versus Non-Porous Cages |
| NCT05648474 | Not specified | RECRUITING | Intraoperative Monitoring for the Lateral Lumbar Interbody Fusion Procedure |
| NCT05963815 | Not specified | RECRUITING | The Spine PROMCO Study |
| NCT06093477 | Not specified | RECRUITING | Studying Melatonin and Recovery in Teens |
| NCT06265038 | Not specified | RECRUITING | Confirmatory Investigation to Evaluate the Performance and Safety of ReSpace TiCell Cage Implants in TLIF |
| NCT06355791 | Not specified | RECRUITING | Post-Market Clinical Study of Functional Motion Outcomes in Subjects Treated With the Minuteman Device |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SODIUM CHLORIDE | 4 | 2 |
| DIBOTERMIN ALFA | 4 | 1 |
| KETAMINE | 4 | 1 |
| OXYCODONE | 4 | 1 |
| PREGABALIN | 4 | 1 |
| ROPIVACAINE | 4 | 1 |
| REXLEMESTROCEL-L | 3 | 1 |
| RACEPINEPHRINE | 2 | 1 |