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中国汉族人群中多态性与腰椎间盘突出症风险的关联。

Association between polymorphisms and the risk of Lumbar disc herniation in Chinese Han population.

机构信息

Health Science Center, Xi'an Jiaotong University, Xi'an, Shaanxi, China.

Department of Spinal Surgery, Xi 'An Hospital of Traditional Chinese Medicine, Xi'an, Shaanxi, China.

出版信息

Cell Cycle. 2022 Oct;21(19):2109-2120. doi: 10.1080/15384101.2022.2087281. Epub 2022 Jun 15.

Abstract

Lumbar disc herniation (LDH) is a common spinal disease that endangers human health. Genetic factors play a vital role in the progression of LDH. This study aimed to explore the relationship of the polymorphism with LDH risk in the Chinese population. Seven candidate SNPs on in 504 patients with LDH and 503 healthy people were genotyped by Agena MassARRAY platform. Logistic regression was used to calculate the relationship between polymorphism and LDH risk under different genetic models. Multi-factor dimensionality reduction (MDR) analysis was performed to evaluate the SNP-SNP interaction. We found that rs10965059 was significantly associated with a decreased risk of LDH under the dominant (OR = 0.46, 95% CI: 0.34-0.62, < 0.001), log-additive (OR = 0.59, 95%CI: 0.45-0.76, < 0.001), and codominant (OR = 0.40, 95%CI: 0.29-0.55, < 0.001) models in the overall analysis. In the subgroup analyses of age, male, and complications, we found that rs10965059 was associated with a reduced risk of LDH. However, there was no significant correlation between polymorphisms and risk of LDH in females. In addition, the three SNPs (rs72703442-rs2025327-rs55683539) was mapped to a 26kb LD block with D' >0.96, suggesting a significant linkage disequilibrium presence among each pair SNPs. MDR analysis showed that the best single-locus and multi-locus models for the prediction of LDH risk were rs10965059 and seven-locus models, respectively, and both of them increased LDH risk. Our results shown that in the Chinese Han population, the polymorphism rs10965059 was involved in a risk to symptomatic LDH, which provides a scientific basis for early screening, prevention, diagnosis and treatment of local LDH high-risk populations.

摘要

腰椎间盘突出症(LDH)是一种常见的危害人类健康的脊柱疾病。遗传因素在 LDH 的进展中起着至关重要的作用。本研究旨在探讨中国人中多态性与 LDH 风险的关系。通过 Agena MassARRAY 平台对 504 例 LDH 患者和 503 例健康对照者的 7 个候选 SNP 进行基因分型。采用 logistic 回归计算不同遗传模型下多态性与 LDH 风险的关系。多因素维度缩减(MDR)分析评估 SNP-SNP 相互作用。我们发现 rs10965059 与 LDH 风险降低显著相关,在显性(OR=0.46,95%CI:0.34-0.62, < 0.001)、对数相加(OR=0.59,95%CI:0.45-0.76, < 0.001)和共显性(OR=0.40,95%CI:0.29-0.55, < 0.001)模型中均有统计学意义。在年龄、性别和并发症的亚组分析中,我们发现 rs10965059 与 LDH 风险降低相关。然而,在女性中,多态性与 LDH 风险无显著相关性。此外,rs72703442-rs2025327-rs55683539 这三个 SNP 映射到一个 26kb 的 LD 块,D' >0.96,表明每对 SNP 之间存在显著的连锁不平衡。MDR 分析表明,用于预测 LDH 风险的最佳单基因座和多基因座模型分别为 rs10965059 和七个基因座模型,它们都增加了 LDH 风险。我们的研究结果表明,在中国汉族人群中, 多态性 rs10965059 与有症状的 LDH 风险有关,为局部 LDH 高危人群的早期筛查、预防、诊断和治疗提供了科学依据。

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本文引用的文献

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