Neurospine.  2021 Sep;18(3):608-617. 10.14245/ns.2142544.272.

Clinical, Radiographic, and Genetic Analyses in a Population-Based Cohort of Adult Spinal Deformity in the Older Population

  • 1Department of Neurosurgery, Yongin Severance Hospital, Yonsei University School of Medicine, Yongin, Korea
  • 2Department of Neurosurgery, Champodonamu Hospital, Seoul, Korea
  • 3College of Pharmacy, Yonsei Institute of Pharmaceutical Sciences, Yonsei University, Incheon, Korea
  • 4Department of Neurosurgery, Chonnam National University Medical School & Research Institute of Medical Sciences, Gwangju, Korea
  • 5Department of Neurosurgery, Inha University Hospital, Inha University School of Medicine, Incheon, Korea
  • 6Department of Neurosurgery, Spine and Spinal Cord Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
  • 7Department of Neurosurgery, Spine and Spinal Cord Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
  • 8POSTECH Biotech Center, Pohang University of Science and Technology, Pohang, Korea


This study aimed to identify the sagittal parameters associated with health-related quality of life and genetic variations that increase the risk of adult spinal deformity (ASD) onset in the older population.
We recruited 120 participants who had a sagittal vertical axis > 50 mm in a sagittal imbalance study. Sagittal radiographic parameters, cross-sectional area, and intramuscular fatty infiltration using the Goutallier classification in the paraspinal lumbar muscles were evaluated. Functional scales included the self-reported Oswestry Disability Index (ODI), 36-item Short Form Health Survey (SF-36), and visual analogue scales (VAS) for back and leg pain. We performed whole-exome sequencing and an exome-wide association study using the 100 control subjects and 63 individuals with severe phenotypes of sagittal imbalance.
Pelvic incidence minus lumbar lordosis (PI–LL) mismatch was negatively associated with the SF-36 and positively correlated with ODI and VAS for back and leg pain. PI–LL was related to the quality and size of the paraspinal muscles, especially the multifidus muscle. We identified common individual variants that reached exome-wide significance using single-variant analysis. The most significant single-nucleotide polymorphism was rs78773460, situated in an exon of the SVIL gene (odds ratio, 9.61; p = 1.15 × 10-9).
Older age, higher body mass index, and a more significant PI–LL mismatch were associated with unfavorable results on functional scales. We found a genetic variation in the SVIL gene, which has been associated with the integrity of the cytoskeleton and the development of skeletal muscles, in severe ASD phenotypes. Our results help to elucidate the pathogenesis of ASD.


Adult spinal deformity; Sagittal imbalance; Health-related quality of life; Genome-wide association study; supervillin
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