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Vitamin D receptor gene and aggrecan gene polymorphisms and the risk of intervertebral disc degeneration - a meta-analysis.

ABSTRACT: BACKGROUND: A series of studies have been conducted to evaluate the associations between vitamin D receptor (VDR) and aggrecan variable numbers of tandem repeat (VNTR) polymorphisms and the risk of intervertebral disc degeneration (IDD), but produced conflicting results. OBJECTIVE: we performed a meta-analysis to address a more accurate estimation of the associations between the above gene polymorphisms and the risk of IDD. METHODS: A comprehensive literature search was conducted to identify all the relevant studies. The fixed or random effect model was selected based on the heterogeneity test among studies evaluated using the I(2). Publication bias was estimated using Begg's funnel plots and Egger's regression test. RESULTS: A total of 9, 5, 3, and 7 studies were finally included in the analyses for the associations between the VDR TaqI (rs731236), FokI (rs2228570), ApaI (rs7975232), or aggrecan VNTR polymorphisms and the risk of IDD, respectively. The combined results showed that none of the VDR (TaqI, FokI, ApaI) polymorphisms were significantly associated with the risk of IDD. In contrast, the alleles with shorter VNTR length was found to significantly increase the risk of IDD (?25 vs. >25: OR?=?1.850, 95%CI 1.477-2.318; ?23 vs. >23: OR?=?1.955, 95%CI 1.41-2.703). Subgroup analysis confirmed the above results. After excluding studies deviated from Hardy-Weinberg equilibrium (HWE) in controls, no other studies were found to significantly influence the pooled effects in each genetic model. No potential publication bias was detected. CONCLUSION: This meta-analysis suggested that the alleles with shorter VNTR length significantly increased the risk of IDD, while the VDR (TaqI, FokI, ApaI) gene polymorphisms were not significantly associated with the risk of IDD. Since potential confounders could not be ruled out completely, further studies are needed to confirm these results.

SUBMITTER: Xu G

PROVIDER: S-EPMC3509154 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Vitamin D receptor gene and aggrecan gene polymorphisms and the risk of intervertebral disc degeneration - a meta-analysis.

Xu Ge G Mei Qiang Q Zhou Daijun D Wu Jinlin J Han Luo L

PloS one 20121128 11

<h4>Background</h4>A series of studies have been conducted to evaluate the associations between vitamin D receptor (VDR) and aggrecan variable numbers of tandem repeat (VNTR) polymorphisms and the risk of intervertebral disc degeneration (IDD), but produced conflicting results.<h4>Objective</h4>we performed a meta-analysis to address a more accurate estimation of the associations between the above gene polymorphisms and the risk of IDD.<h4>Methods</h4>A comprehensive literature search was conduc ...[more]

PMID: 23209686

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Project description:Background contextDisc degeneration (DD) is a multifaceted chronic process that alters the structure and function of the intervertebral discs and can lead to painful conditions. The pathophysiology of degeneration is not well understood, but previous studies suggest that certain genetic polymorphisms may be important contributing factors leading to an increased risk of DD.PurposeTo review the genetic factors in DD with a focus on polymorphisms and their putative role in the pathophysiology of degeneration. Elucidating the genetic components that are associated with degeneration could provide insights into the mechanism of the process. Furthermore, defining these relationships and eventually using them in a clinical setting may allow an identification and early intervention for those who are at a high risk for painful DD.Study designLiterature review.MethodsThis literature review focused on the studies concerning genetic polymorphisms and their associations with DD.ResultsGenetic polymorphisms in 20 genes have been analyzed in association with DD, including vitamin D receptor, growth differentiation factor 5 (GDF5), aggrecan, collagen Types I, IX, and XI, fibronectin, hyaluronan and proteoglycan link protein 1 (HAPLN1), thrombospondin, cartilage intermediate layer protein (CILP), asporin, MMP1, 2, and 3, parkinson protein 2, E3 ubiquitin protein ligase (PARK2), proteosome subunit ? type 9 (PSMB9), tissue inhibitor of metalloproteinase (TIMP), cyclooxygenase-2 (COX2), and IL1?, IL1?, and IL6. Each genetic polymorphism codes for a protein that has a functional role in the pathogenesis of DD.ConclusionsThere are known associations between several genetic polymorphisms and DD. Of the 20 genes analyzed, polymorphisms in vitamin D receptor, aggrecan, Type IX collagen, asporin, MMP3, IL1, and IL6 show the most promise as functional variants. Genetic studies are crucial for understanding the mechanism of the degeneration. This genetic information could eventually be used as a predictive model for determining a patient's risk for symptomatic DD.

Dataset Information

Vitamin D receptor gene and aggrecan gene polymorphisms and the risk of intervertebral disc degeneration - a meta-analysis.

Publications

Vitamin D receptor gene and aggrecan gene polymorphisms and the risk of intervertebral disc degeneration - a meta-analysis.

Similar Datasets

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