Objective: 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. Methods: 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. Results: 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). Conclusion: 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.
|Number of pages||10|
|Publication status||Published - 2021|
Bibliographical noteFunding Information:
This research was supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI) funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HC15C1288) and by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (NRF-2018R1A6A1A03023718). The authors wish to thank Prof. Sang Hyun Han for his contributions in drafting the manuscript and revising it for important intellectual content. The authors thank all of the subjects who participated in the study, the support staff, and the research co-ordinator.
© 2021 by the Korean Spinal Neurosurgery Society.
All Science Journal Classification (ASJC) codes
- Clinical Neurology