{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T13:44:14Z","timestamp":1793022254207,"version":"4.5.0"},"reference-count":62,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,1,20]],"date-time":"2020-01-20T00:00:00Z","timestamp":1579478400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","award":["CS-2015-15-023"],"award-info":[{"award-number":["CS-2015-15-023"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Degenerative cervical myelopathy (DCM) is estimated to be the most common cause of adult spinal cord impairment. Evidence that is suggestive of a genetic basis to DCM has been increasing over the last decade. A systematic search was conducted in MEDLINE, EMBASE, Cochrane, and HuGENet databases from their origin up to 14th December 2019 to evaluate the role of single genes in DCM in its onset, clinical phenotype, and response to surgical intervention. The initial search yielded 914 articles, with 39 articles being identified as eligible after screening. We distinguish between those contributing to spinal column deterioration and those contributing to spinal cord deterioration in assessing the evidence of genetic contributions to DCM. Evidence regarding a total of 28 candidate genes was identified. Of these, 22 were found to have an effect on the radiological onset of spinal column disease, while 12 genes had an effect on clinical onset of spinal cord disease. Polymorphisms of eight genes were found to have an effect on the radiological severity of DCM, while three genes had an effect on clinical severity. Polymorphisms of six genes were found to have an effect on clinical response to surgery in spinal cord disease. There are clear genetic effects on the development of spinal pathology, the central nervous system (CNS) response to bony pathology, the severity of both bony and cord pathology, and the subsequent response to surgical intervention. Work to disentangle the mechanisms by which the genes that are reviewed here exert their effects, as well as improved quality of evidence across diverse populations is required for further investigating the genetic contribution to DCM.<\/jats:p>","DOI":"10.3390\/jcm9010282","type":"journal-article","created":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T03:04:43Z","timestamp":1579575883000},"page":"282","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3210-8214","authenticated-orcid":false,"given":"Daniel H.","family":"Pope","sequence":"first","affiliation":[{"name":"School of Clinical Medicine, University of Cambridge, Cambridge CB2 0SP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0591-5069","authenticated-orcid":false,"given":"Benjamin M.","family":"Davies","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6788-745X","authenticated-orcid":false,"given":"Oliver D.","family":"Mowforth","sequence":"additional","affiliation":[{"name":"School of Clinical Medicine, University of Cambridge, Cambridge CB2 0SP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1138-4452","authenticated-orcid":false,"given":"A. Ramsay","family":"Bowden","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK"},{"name":"The Wellcome Trust\/Cancer Research UK Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge CB2 1QN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5145-7199","authenticated-orcid":false,"given":"Mark R. N.","family":"Kotter","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK"},{"name":"Anne McLaren Laboratory for Regenerative Medicine, Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge CB2 0SZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"E675","DOI":"10.1097\/BRS.0000000000000913","article-title":"Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis","volume":"40","author":"Nouri","year":"2015","journal-title":"Spine"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"k186","DOI":"10.1136\/bmj.k186","article-title":"Degenerative cervical myelopathy","volume":"360","author":"Davies","year":"2018","journal-title":"BMJ"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"S51","DOI":"10.1227\/NEU.0000000000000951","article-title":"Degenerative Cervical Myelopathy: A Spectrum of Related Disorders Affecting the Aging Spine","volume":"77","author":"Tetreault","year":"2015","journal-title":"Neurosurgery"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1177\/1073858412467377","article-title":"Cervical Spondylotic Myelopathy: The Clinical Phenomenon and the Current Pathobiology of an Increasingly Prevalent and Devastating Disorder","volume":"19","author":"Karadimas","year":"2013","journal-title":"Neuroscientist"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1097\/BRS.0000000000000919","article-title":"Does Magnetic Resonance Imaging Improve the Predictive Performance of a Validated Clinical Prediction Rule Developed to Evaluate Surgical Outcome in Patients with Degenerative Cervical Myelopathy?","volume":"40","author":"Nouri","year":"2015","journal-title":"Spine"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1177\/2192568217745519","article-title":"Clinico-Radiographic Discordance: An Evidence-Based Commentary on the Management of Degenerative Cervical Spinal Cord Compression in the Absence of Symptoms or With Only Mild Symptoms of Myelopathy","volume":"8","author":"Witiw","year":"2018","journal-title":"Glob. 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