{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T01:08:27Z","timestamp":1789607307911,"version":"build-2803163510"},"reference-count":38,"publisher":"The Korean Spinal Neurosurgery Society","issue":"3","license":[{"start":{"date-parts":[[2021,9,30]],"date-time":"2021-09-30T00:00:00Z","timestamp":1632960000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003625","name":"Ministry of Health and Welfare","doi-asserted-by":"publisher","award":["HC15C1288"],"award-info":[{"award-number":["HC15C1288"]}],"id":[{"id":"10.13039\/501100003625","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2018R1A6A1A03023718"],"award-info":[{"award-number":["2018R1A6A1A03023718"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004085","name":"Ministry of Education, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004085","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["e-neurospine.org"],"crossmark-restriction":true},"short-container-title":["Neurospine"],"published-print":{"date-parts":[[2021,9,30]]},"abstract":"<jats:p>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 &gt; 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\u2013LL) mismatch was negatively associated with the SF-36 and positively correlated with ODI and VAS for back and leg pain. PI\u2013LL 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 \u00d7 10-9).Conclusion: Older age, higher body mass index, and a more significant PI\u2013LL 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.<\/jats:p>","DOI":"10.14245\/ns.2142544.272","type":"journal-article","created":{"date-parts":[[2021,9,30]],"date-time":"2021-09-30T04:54:46Z","timestamp":1632977686000},"page":"608-617","update-policy":"https:\/\/doi.org\/10.14245\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Clinical, Radiographic, and Genetic Analyses in a Population-Based Cohort of Adult Spinal Deformity in the Older Population"],"prefix":"10.14245","volume":"18","author":[{"given":"Jun Jae","family":"Shin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byeongwoo","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juwon","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junjeong","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bong Ju","family":"Moon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dal Sung","family":"Ryu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung Hwan","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong Kyu","family":"Chin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung-Kil","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2248-9188","authenticated-orcid":true,"given":"Keung Nyun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3775-2324","authenticated-orcid":true,"given":"Yoon","family":"Ha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5355","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0178697"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1227\/neu.0000000000000938"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/01.brs.0000239155.37261.69"},{"key":"ref4","first-page":"E803","volume-title":"Radiographical spinopelvic parameters and disability in the setting of adult spinal deformity: a prospective multicenter analysis","author":"Schwab","year":"2013"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/s12891-015-0676-1"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-147-5-200709040-00008"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.14245\/ns.2040334.167"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.06.012"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/ng.974"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.14245\/ns.1938320.160"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyx105"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.14245\/ns.1938414.207"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1097\/01.brs.0000160842.43482.cd"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1097\/md.0000000000019551"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-200209150-00011"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.14245\/ns.1938100.050"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1186\/1748-7161-10-s2-s17"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.11138\/ccmbm\/2014.11.1.009"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-018-2880-1"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1053\/crad.1999.0340"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-199306000-00004"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1186\/s12891-019-2837-0"},{"key":"ref25","first-page":"318","volume-title":"Quantitative analysis of back muscle degeneration in the patients with the degenerative lumbar flat back using a digital image analysis: comparison with the normal controls","author":"Lee","year":"2008"},{"key":"ref26","first-page":"1723","volume-title":"Prospective observational cohort study of health-related quality of life: marked adult sagittal deformity (ASD) in comparison with mild to moderate ASD","author":"Ryu","year":"2019"},{"key":"ref27","first-page":"1317","volume-title":"Lumbar degenerative kyphosis. 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