Association of <i><scp>VDR</scp>‐FokI</i> and <i><scp>VDBP</scp>‐Thr420Lys</i> polymorphisms with cervical spondylotic myelopathy: A case‐control study in the population of China

Song, Da; Wu, Yuchen; Tian, Dongdong

doi:10.1002/jcla.22669

Cited by 5 publications

(4 citation statements)

References 39 publications

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“…The BsmI polymorphism also had no effect on CSM risk, but the ApaI and TaqI polymorphisms conferred a 2.88 times and 4.67 times increased CSM risk (both p < 0.001). In opposition to Wang et al's findings, Song et al (2018) found the ff genotype of the FokI polymorphism to be associated with a 1.985 times greater risk of myelopathy (p = 0.003) [49].…”

Section: Spinal Cord Pathologymentioning

confidence: 63%

“…There was no effect of the Thr420Lys polymorphism of the VDBP gene on mJOA score or the number of ossified segments in 318 CSM patients [49]. Similarly, four polymorphisms of the VDR gene (FokI, BsmI, ApaI, TaqI) were found to have no significant effect on mJOA score in two studies [49,51].…”

Section: What Are the Genetic Effects On Clinical Severity Of Dcm?mentioning

confidence: 90%

“…There was no significant effect of the IVS2+114G>A SNP of TGFB1, while the CC genotype IVS1-1284G>C SNP of TGFB3 was associated with an increased risk of DCM development (OR 1.46, p = 0.044). Song et al (2018) found no significant effect of the Thr20Lys polymorphism of the VDBP gene (OR 0.973, p = 0.834) [49].…”

Section: Spinal Cord Pathologymentioning

confidence: 90%

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Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

Pope

Davies

Mowforth

et al. 2020

JCM

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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.

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Section: Spinal Cord Pathologymentioning

confidence: 63%

Section: What Are the Genetic Effects On Clinical Severity Of Dcm?mentioning

confidence: 90%

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Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

Pope

Davies

Mowforth

et al. 2020

JCM

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“…We set a standard 40,43 genome-wide significance threshold of 5×10 −8 . We also specifically examined 63 genetic markers identified as significantly associated with DCM in prior literature 6,11,44–77 . For these markers, a Bonferroni-adjusted P -value of <0.0008 (=0.05/63) and an OR indicating an association in the same direction as the original publication were considered evidence of replication.…”

Section: Methodsmentioning

confidence: 99%

Evaluation of Genetic and Nongenetic Risk Factors for Degenerative Cervical Myelopathy

Shlykov¹,

Giles²,

Kelly³

et al. 2023

Spine

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Study Design. Cohort study. Objective. We aimed to evaluate the associations of genetic and nongenetic factors with degenerative cervical myelopathy (DCM). Summary of Background Data. There is mounting evidence for an inherited predisposition for DCM, but uncertainty remains regarding specific genetic markers involved. Similarly, nongenetic factors are thought to play a role. Materials and Methods. Using diagnosis codes from hospital records linked to the UK Biobank cohort, patients with cervical spondylosis were identified followed by the identification of a subset with DCM. Nongenetic variables evaluated included age, sex, race, Townsend deprivation index, body mass index, occupational demands, osteoporosis, and smoking. Genome-wide association analyses were conducted using logistic regression adjusted for age, sex, population principal components, and follow-up. Results. A total of 851 DCM cases out of 2787 cervical spondylosis patients were identified. Several nongenetic factors were independently associated with DCM including age [odds ratio (OR)=1.11, 95% CI=1.01–1.21, P=0.024], male sex (OR=1.63, 95% CI=1.37–1.93, P<0.001), and relative socioeconomic deprivation (OR=1.03, 95% CI=1.00–1.06, P=0.030). Asian race was associated with lower DCM risk (OR=0.44, 95% CI=0.22–0.85, P=0.014). We did not identify genome-wide significant (≤5×10−8) single-nucleotide polymorphisms (SNPs) associated with DCM. The strongest genome-wide signals were at SNP rs67256809 in the intergenic region of the genes LINC02582 and FBXO15 on chromosome 18 (P=1.12×10−7) and rs577081672 in the GTPBP1 gene on chromosome 22 (P=2.9×10−7). No SNPs reported in prior DCM studies were significant after adjusting for replication attempts. Conclusions. Increasing age, male sex, and relative socioeconomic deprivation were identified as independent risk factors for DCM, whereas Asian race was inversely associated. SNPs of potential interest were identified in GTPBP1 and an intergenic region on chromosome 18, but these associations did not reach genome-wide significance. Identification of genetic and nongenetic DCM susceptibility markers may guide understanding of DCM disease processes, inform risk, guide prevention and potentially inform surgical outcomes. Level of Evidence. Prognostic level III.

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Associations between vitamin D receptor gene polymorphisms and spinal degenerative disease: evidence from a meta-analysis based on 35 case-control studies

Gao

Xun

et al. 2021

Clinical Neurology and Neurosurgery

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Association of VDR‐FokI and VDBP‐Thr420Lys polymorphisms with cervical spondylotic myelopathy: A case‐control study in the population of China

Cited by 5 publications

References 39 publications

Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

Evaluation of Genetic and Nongenetic Risk Factors for Degenerative Cervical Myelopathy

Associations between vitamin D receptor gene polymorphisms and spinal degenerative disease: evidence from a meta-analysis based on 35 case-control studies

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