Department of OrthoPedics, Southwest Hospital, Third Military Medical University, Chongqing, China.
PLoS One. 2012;7(11):e50243. doi: 10.1371/journal.pone.0050243. Epub 2012 Nov 28.
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.
we performed a meta-analysis to address a more accurate estimation of the associations between the above gene polymorphisms and the risk of IDD.
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.
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.
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.
已经进行了一系列研究来评估维生素 D 受体 (VDR) 和聚集蛋白聚糖可变数目串联重复 (VNTR) 多态性与椎间盘退变 (IDD) 风险之间的关联，但结果存在冲突。
我们进行了一项荟萃分析，以更准确地评估上述基因多态性与 IDD 风险之间的关联。
进行了全面的文献检索，以确定所有相关研究。根据评估研究间异质性的 I(2)检验，选择固定或随机效应模型。使用 Begg 的漏斗图和 Egger 的回归检验估计发表偏倚。
最终纳入了 9 项、5 项、3 项和 7 项研究，分别用于分析 VDR TaqI(rs731236)、FokI(rs2228570)、ApaI(rs7975232)或聚集蛋白聚糖 VNTR 多态性与 IDD 风险之间的关联。合并结果显示，VDR(TaqI、FokI、ApaI)多态性均与 IDD 风险无显著关联。相反，VNTR 较短长度的等位基因被发现显著增加 IDD 的风险（≦25 对>25：OR=1.850，95%CI 1.477-2.318；≦23 对>23：OR=1.955，95%CI 1.41-2.703）。亚组分析证实了上述结果。在排除对照中偏离 Hardy-Weinberg 平衡（HWE）的研究后，没有发现其他研究显著影响每种遗传模型的汇总效应。未发现潜在的发表偏倚。
本荟萃分析表明，VNTR 较短长度的等位基因显著增加了 IDD 的风险，而 VDR(TaqI、FokI、ApaI)基因多态性与 IDD 风险无显著关联。由于不能完全排除潜在的混杂因素，需要进一步的研究来证实这些结果。
