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EYS 多态性与汉族人群腰椎间盘突出症风险的相关性。

Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population.

机构信息

Inner Mongolia Medical University, Hohhot, China.

The Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.

出版信息

Mol Genet Genomic Med. 2019 Sep;7(9):e890. doi: 10.1002/mgg3.890. Epub 2019 Jul 30.

Abstract

BACKGROUND

Lumbar disc herniation (LDH) is a common spinal disease in clinical practice. Once lumbar disc herniation occurs, it seriously reduces patient's quality of life. The EYS (eyes shut homolog) was discovered in recent years and it may be related to lumbar disc herniation. So we conducted a case-control study to explore the relationship between EYS polymorphism and lumbar disc herniation risk.

METHODS

We selected 5 single-nucleotide polymorphisms (SNPs) of EYS gene in a case-control study with 508 cases and 508 healthy controls to evaluate the relatedness by using genetic model, haplotype, and stratification analysis.

RESULTS

We found that the minor alleles of rs62413038 (OR = 1.21, 95%CI: 1.01-1.43, p = .036) and rs9450607 (OR = 1.26, 95% CI: 1.05-1.53, p = .016) were associated with an increased risk of lumbar disc herniation in the allelic model analysis. In the genotypic model analysis, rs62413038 displayed a significantly increased risk of lumbar disc herniation in log-additive models (OR = 1.20, 95% CI: 1.01-1.43, p = .039). While the rs9450607 was also obviously associated with an increased lumbar disc herniation risk in recessive (OR = 1.98, 95% CI: 1.24-3.13, p = .004) and log-additive models (OR = 1.27, 95% CI: 1.05-1.55, p = .014). In addition, in the haplotype analyses of the SNPs, we found that the "CGGA" haplotype of rs1482456, rs9342097, rs9450607, and rs7757884 was associated with lumbar disc herniation. (OR = 0.52, 95% CI: 0.30-0.89, p = .017).

CONCLUSION

These results suggest that EYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation.

摘要

背景

腰椎间盘突出症(LDH)是临床常见的脊柱疾病。一旦发生腰椎间盘突出症,严重降低患者的生活质量。EYS(闭眼同源物)近年来被发现,它可能与腰椎间盘突出症有关。因此,我们进行了病例对照研究,以探讨 EYS 多态性与腰椎间盘突出症风险之间的关系。

方法

我们在病例对照研究中选择了 EYS 基因的 5 个单核苷酸多态性(SNP),共纳入 508 例病例和 508 例健康对照,采用遗传模型、单体型和分层分析评估相关性。

结果

我们发现 rs62413038(OR=1.21,95%CI:1.01-1.43,p=0.036)和 rs9450607(OR=1.26,95%CI:1.05-1.53,p=0.016)的次要等位基因与腰椎间盘突出症的风险增加相关,在等位基因模型分析中。在基因型模型分析中,rs62413038 在加性模型中显示出腰椎间盘突出症的风险显著增加(OR=1.20,95%CI:1.01-1.43,p=0.039)。而 rs9450607 也明显与隐性(OR=1.98,95%CI:1.24-3.13,p=0.004)和加性模型(OR=1.27,95%CI:1.05-1.55,p=0.014)中腰椎间盘突出症的风险增加相关。此外,在 SNP 的单体型分析中,我们发现 rs1482456、rs9342097、rs9450607 和 rs7757884 的“CGGA”单体型与腰椎间盘突出症相关。(OR=0.52,95%CI:0.30-0.89,p=0.017)。

结论

这些结果表明,EYS 多态性可能与汉族人群的腰椎间盘突出症有关。这也为腰椎间盘突出症的病因学开辟了新的探索方向。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52a1/6732306/1e89f761443f/MGG3-7-e890-g001.jpg

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