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

Gao, Shutao; Xun, Chuanhui; Xu, Tao; Cao, Rui; Zhang, Jian; Li, Weidong; Sheng, Weibin

doi:10.1016/j.clineuro.2020.106325

Cited by 5 publications

(3 citation statements)

References 57 publications

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“…12 studies were included in the meta-analysis: three studies for IL-1A (rs1800587), 19,42,43 two studies for TNF-A (rs361525), 19,44 and nine studies for VDR (rs731236). 28,42,[45][46][47][48][49][50][51] The summary of studies included in the meta-analysis is presented in Table 1.…”

Section: Study Eligibility Resultsmentioning

confidence: 99%

The role of single nucleotide polymorphisms of IL-1A -889C>T (rs1800587), TNF-A -238G>A (rs361525), and VDR TaqI (rs731236) on susceptibility to herniated nucleus pulposus

Azharuddin¹,

Ilmawan²,

Fajar³

et al. 2021

F1000Res

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Background: The objective of this study was to determine the role of single nucleotide polymorphisms (SNPs) in interleukin 1 alpha (IL-1A), tumor necrosis factor-alpha (TNF-A), and vitamin D receptor (VDR) genes on the susceptibility to herniated nucleus pulposus (HNP). Methods: Four databases (PubMed, Embase, Cochrane, and Web of Science) were searched as of April 1st, 2021. Authors, publication year, targeted genes, genotype and allele frequency in each case and control groups were collected. Newcastle-Ottawa scale was used to evaluate the publication quality. The pooled estimates of association of IL-1A -889C>T (rs1800587), TNF-A -238G>A (rs361525), and VDR TaqI (rs731236) and susceptibility to HNP were assessed using Z test and presented as odd ratio (OR) and 95% confidence intervals (95%CI). Results: We screened 3,067 unique studies for eligibility and three, two and nine studies on IL-1A -889C>T, TNF-A -238G>A, and VDR TaqI were included, respectively, in our meta-analysis. The studies consisting 369 HNP cases and 433 controls for IL-1A -889C>T, 252 cases and 259 controls for TNF-A -238G>A and 1130 cases and 2096 controls for VDR TaqI. Our pooled estimates indicated that there was no significant association of those SNPs with the susceptibility to HNP in any genotype, dominant model, recessive model, or allele comparations. Conclusion: Although individual studies suggested the important role of gene expression dysregulation associated with SNPs in IL-1A, TNF-A, and VDR, our data indicated that IL-1A -889C>T, TNF-A -238G>A, and VDR TaqI had weak association with HNP susceptibility in both genotypes and allele distributions. However, since heterogeneity was identified among studies included in this meta-analysis, further meta-analysis with a larger population and subgroup analysis on specific population are warranted to support this finding.

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Section: Study Eligibility Resultsmentioning

confidence: 99%

The role of single nucleotide polymorphisms of IL-1A -889C>T (rs1800587), TNF-A -238G>A (rs361525), and VDR TaqI (rs731236) on susceptibility to herniated nucleus pulposus

Azharuddin¹,

Ilmawan²,

Fajar³

et al. 2021

F1000Res

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“…Vieira et al found a dependence between FokI polymorphism, T to C in the VDR, and IDD in an investigation of 121 Brazilian men [7]. FokI polymorphisms and IDD [30]. The observed discrepancy between the above-stated results might be due to variations in sample size, ethnicity, and differences in the design of the studies.…”

Section: Discussionmentioning

confidence: 95%

A Case-Control Study of the Fokl Polymorphism of the Vitamin D Receptor Gene in Bulgarians With Lumbar Disc Herniation

Gaydarski,

Sirakov,

Uzunov

et al. 2023

Cureus

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Background: The present study investigates whether vitamin D receptor (VDR) gene polymorphisms play a role in intervertebral disc degeneration (IDD), a common cause of low back pain (LBP) and reduced quality of life. Specifically, we examined the FokI VDR polymorphism and its potential association with lumbar disc herniation (LDH) in patients from Bulgaria. Previous studies have suggested a link between mutations in the VDR gene and IDD.Methods: We investigated whether a potential connection between VDR polymorphisms and LDH was present by comparing the FokI polymorphism of 60 selected patients (25 to 60) with LDH and 60 healthy volunteers within the same age range. We used polymerase chain reaction to assess the phenotype of the examined subjects and statistical tests to evaluate whether the obtained results were statistically significant.Results: The performed genetic and statistical analyses reviewed significant differences in genotypic frequencies between the patient group and healthy volunteers. The frequency of the F allele is notably higher in patients with LDH (80%) compared to volunteers (52%), while the f allele is more common among patients (86.6%) than volunteers (100%).Conclusion: This study strongly suggests that expression of the F allele of the VDR gene may increase the susceptibility of developing LDH, while having the f allele could potentially have a protective effect. Our results shed light on the underlying complex mechanisms contributing to the development of LDH.

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“…Then, the chi-square test was used to determine statistically significant SNPs. Analysis of a genetic association was estimated under five different models (allelic, dominant, recessive, heterozygous and homozygous) using SPSS 21.0 statistical software (SPSS Inc., Chicago, USA) [ 26 ]. In screening for SNPs with statistically significant differences, P values < 0.01 in two-tailed test were considered statistically significant, for other statistical analyses, P values < 0.05 were considered statistically significant.…”

Section: Methodsmentioning

confidence: 99%

Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case–control study

Wang

Chen

et al. 2022

J Orthop Surg Res

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Objective The association between the single-nucleotide polymorphisms (SNPs) rs28742109, rs12955018, rs987850, rs8093805, rs12965084 and rs145497186 related to gene named NADH dehydrogenase [ubiquinone] flavoprotein 2 (NDUFV2) and lumbar disc degeneration (LDD) was preliminary investigated in a small sample size. Methods A total of 46 patients with LDD and 45 controls were recruited at Qilu Hospital of Shandong University, and each participant provided 5 mL peripheral venous blood. NA was extracted from the blood of each participant for further genotyping. The frequency of different genotypes in the case group and control group was determined, and analysis of the risk of LDD associated with different SNP genotypes was performed. The visual analogue scale (VAS) scores of the patients’ degree of chronic low back pain were calculated, and the relationship between VAS scores and SNPs was analysed. Results After excluding the influence of sex, age, height, and weight on LDD, a significant association between SNP rs145497186 related to NDUFV2 and LDD persisted (P = 0.006). Simultaneously, rs145497186 was found to be associated with chronic low back pain in LDD populations. Conclusion NDUFV2 rs145497186 SNP could be associated with susceptibility to LDD and the degree of chronic low back pain.

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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

Cited by 5 publications

References 57 publications

The role of single nucleotide polymorphisms of IL-1A -889C>T (rs1800587), TNF-A -238G>A (rs361525), and VDR TaqI (rs731236) on susceptibility to herniated nucleus pulposus

The role of single nucleotide polymorphisms of IL-1A -889C>T (rs1800587), TNF-A -238G>A (rs361525), and VDR TaqI (rs731236) on susceptibility to herniated nucleus pulposus

A Case-Control Study of the Fokl Polymorphism of the Vitamin D Receptor Gene in Bulgarians With Lumbar Disc Herniation

Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case–control study

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