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Peer-reviewedCC BYNature communications

Genetic architecture of MRI-derived cervical spinal cord morphology reveals sensory-motor axis and systemic disease associations.

  • Zhuopin Sun1,2
  • Jiru Han1,2
  • Zachary F Gerring1,2
  • Victoria E Jackson1,2
  • Oneil G Bhalala1,2,3
  • Gustavo M Jarola4
  • Ian H Harding5,6
  • Thiago J R Rezende4,7
  • Melanie Bahlo8,9
9 affiliations
  1. 1The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
  2. 2Department of Medical Biology, The University of Melbourne, Parkville, VIC, Australia.
  3. 3Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, Australia.
  4. 4Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
  5. 5QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  6. 6Department of Neuroscience, School of Translational Medicine, Monash University, Melbourne, Australia.
  7. 7Department of Neurosciences, School of Medicine, University of São Paulo at Ribeirão Preto (USP-RP), Ribeirão Preto, SP, Brazil.
  8. 8The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia. [email protected].
  9. 9Department of Medical Biology, The University of Melbourne, Parkville, VIC, Australia. [email protected].
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Abstract

The spinal cord is critical to motor, sensory, autonomic function, and increasingly implicated in neurological disease and human health, yet its genetic architecture remains largely unexplored. We perform large-scale phenotyping of the upper cervical spinal cord (C1-C3) structure using brain magnetic resonance imaging from over 80,000 UK Biobank participants, extracting shape metrics including cross-sectional area, diameters, and eccentricity. We identify a total of 179 independent genome-wide significant variants, with cervical spinal cord morphology showing moderate to high SNP-based heritability (0.16 to 0.42). We also uncover sex-specific genetic signals, highlighting potential biological sex differences in spinal cord development. In addition, spinal cord structure is associated with a wide range of neurological, metabolic, and systemic conditions, such as multiple sclerosis, neuropathies, diabetes, and attention-deficit/hyperactivity disorder. These findings establish the cervical spinal cord as a genetically informative and health relevant structure, offering opportunities to study its role in disease mechanisms and human health.

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Cite

BibTeXRIS
BibTeX
@article{sun2026genetic,
  title = {{Genetic architecture of MRI-derived cervical spinal cord morphology reveals sensory-motor axis and systemic disease associations.}},
  author = {Zhuopin Sun and Jiru Han and Zachary F Gerring and Victoria E Jackson and Oneil G Bhalala and Gustavo M Jarola and Ian H Harding and Thiago J R Rezende and Melanie Bahlo},
  journal = {Nature communications},
  year = {2026},
  month = sep,
  doi = {10.1038/s41467-026-77419-x},
  url = {https://europepmc.org/article/MED/42893988},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Genetic architecture of MRI-derived cervical spinal cord morphology reveals sensory-motor axis and systemic disease associations.
AU  - Zhuopin Sun
AU  - Jiru Han
AU  - Zachary F Gerring
AU  - Victoria E Jackson
AU  - Oneil G Bhalala
AU  - Gustavo M Jarola
AU  - Ian H Harding
AU  - Thiago J R Rezende
AU  - Melanie Bahlo
PY  - 2026
DA  - 2026/09/16
JO  - Nature communications
DO  - 10.1038/s41467-026-77419-x
UR  - https://europepmc.org/article/MED/42893988
AB  - The spinal cord is critical to motor, sensory, autonomic function, and increasingly implicated in neurological disease and human health, yet its genetic architecture remains largely unexplored. We perform large-scale phenotyping of the upper cervical spinal cord (C1-C3) structure using brain magnetic resonance imaging from over 80,000 UK Biobank participants, extracting shape metrics including cross-sectional area, diameters, and eccentricity. We identify a total of 179 independent genome-wide significant variants, with cervical spinal cord morphology showing moderate to high SNP-based heritability (0.16 to 0.42). We also uncover sex-specific genetic signals, highlighting potential biological sex differences in spinal cord development. In addition, spinal cord structure is associated with a wide range of neurological, metabolic, and systemic conditions, such as multiple sclerosis, neuropathies, diabetes, and attention-deficit/hyperactivity disorder. These findings establish the cervical spinal cord as a genetically informative and health relevant structure, offering opportunities to study its role in disease mechanisms and human health.
SN  - 2041-1723
ER  -