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Updated: Mar 21, 2026
Optical Sectioning and Visualization of the Intervertebral Disc from Embryonic Development to Degeneration
Published on: July 8, 2021
Two subtypes of intervertebral disc degeneration distinguished by large-scale population-based study
Yan Li1, Dino Samartzis2, Desmond D Campbell1
1Centre for Genomic Sciences, The University of Hong Kong, 5 Sassoon Rd, Pokfulam, Hong Kong SAR, China; Department of Psychiatry, The University of Hong Kong, Queen Mary Hospital, 102 Pokfulam Road, Pokfulam, Hong Kong SAR, China.
Lumbar disc degeneration (LDD) shows two distinct patterns on MRI: one possibly developmental affecting upper discs, and another degenerative affecting lower discs, linked to BMI. This classification aids future LDD research and clinical care.
Area of Science:
- Orthopedics
- Radiology
- Genetics
- Epidemiology
Background:
- Lumbar disc degeneration (LDD) is a primary cause of low back pain globally.
- Existing Magnetic Resonance Imaging (MRI) features for LDD lack unified classification.
- Heterogeneity in LDD assessment hinders research and clinical application.
Purpose of the Study:
- To analyze intercorrelations and risk factor associations of lumbar disc MRI features.
- To determine single nucleotide polymorphism (SNP) heritabilities for LDD phenotypes.
- To classify distinct intervertebral disc phenotypes linked to LDD.
Main Methods:
- Cross-sectional study of 2,943 Southern Chinese volunteers (mean age 41.1 years).
- Assessed lumbar spine MRI features (L1-S1) including disc signal, bulges, endplate changes, and bone marrow.
- Genotyped participants and collected demographic, environmental, and lifestyle data; analyzed using multivariate statistics and GCTA.
Main Results:
- Lumbar disc MRI features clustered into two groups with different risk factor associations.
- Upper lumbar disc abnormalities (endplate changes, signal loss, bulging) may have developmental origins.
- Lower lumbar disc degeneration, associated with aging and BMI, represents subsequent degenerative changes.
Conclusions:
- First large-scale study identifying two distinct lumbar disc alteration patterns: degenerative and potentially developmental.
- Establishes a foundation for homogeneous phenotype definition, enhancing genetic and epidemiologic studies.
- Offers potential clinical implications for LDD prevention, treatment, and prognosis.
