LINC-PINT 多态性与中国汉族人群腰椎间盘突出症风险的关联：一项病例对照研究。
Association of LINC-PINT polymorphisms with lumbar disc herniation risk among Chinese Han population: a case control study.
机构信息
Development of spinal surgery, the Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010110, Inner Mongolia, China.
School of Health Management, Inner Mongolia Medical University, Hohhot, 010110, Inner Mongolia, China.
出版信息
J Orthop Surg Res. 2023 Aug 8;18(1):585. doi: 10.1186/s13018-023-04052-5.
BACKGROUND
Lumbar disc herniation (LDH) is a complex spinal disease, with multiple genetic polymorphisms being related to its risk. Nevertheless, the role of LINC-PINT polymorphisms in LDH risk has remained unknown. Therefore, this study aimed to investigate the association between LINC-PINT polymorphisms and LDH risk.
METHODS
DNA was extracted from 504 LDH patients and 500 healthy controls. Three single nucleotide polymorphisms (SNPs) in LINC-PINT were selected and genotyped using Agena MassARRAY. We used logistic regression analysis to calculate odds ratios (ORs) and 95% confidence intervals (95% CIs) under multiple genetic models to evaluate the association between LINC-PINT polymorphisms and LDH risk. Haploview 4.2 and SNPStats software were used to evaluate the linkage strength of SNPs and the correlation between haplotypes and LDH risk. The impact of SNP-SNP interactions on LDH risk was analyzed using multi-factor dimensionality reduction (MDR).
RESULTS
Results showed that rs157916 (G vs. A: OR = 1.23, FDR-p = 0.029) and rs7801029 (G vs. C: OR = 1.39, FDR-p = 0.006; GG vs. CC: OR = 2.34, FDR-p = 0.038; recessive: OR = 2.13, FDR-p = 0.045; additive: OR = 1.39, FDR-p = 0.030) were associated with an increased risk of LDH. Furthermore, LINC-PINT rs157916 and rs780129 were found to be significantly associated with LDH risk in males. The "GGG" haplotype was associated with increased LDH risk (OR = 1.41, FDR-p = 0.006). MDR analysis indicated that the interaction between rs7801029 and rs16873842 was associated with an increased risk of LDH (OR = 1.47, p = 0.004). Additionally, there were significant differences in C-reactive protein levels among different genotypes of rs157916 and rs780129 (p < 0.05).
CONCLUSION
This study suggests that LINC-PINT gene polymorphisms (rs157916 and rs7801029) are considered risk factors for LDH in the Chinese Han population and provide a scientific basis for early screening, prevention, and diagnosis of LDH.
背景
腰椎间盘突出症（LDH）是一种复杂的脊柱疾病，多个遗传多态性与 LDH 的发病风险相关。然而，LINC-PINT 多态性在 LDH 发病风险中的作用尚不清楚。因此，本研究旨在探讨 LINC-PINT 多态性与 LDH 发病风险之间的关系。
方法
从 504 例 LDH 患者和 500 例健康对照中提取 DNA。选择 LINC-PINT 中的 3 个单核苷酸多态性（SNP），并使用 Agena MassARRAY 进行基因分型。我们使用逻辑回归分析在多种遗传模型下计算比值比（OR）和 95%置信区间（95%CI），以评估 LINC-PINT 多态性与 LDH 发病风险之间的关系。Haploview 4.2 和 SNPStats 软件用于评估 SNP 之间的连锁强度以及单倍型与 LDH 发病风险之间的相关性。使用多因素维度降低（MDR）分析 SNP-SNP 相互作用对 LDH 发病风险的影响。
结果
结果显示，rs157916（G 对 A：OR=1.23，FDR-p=0.029）和 rs7801029（G 对 C：OR=1.39，FDR-p=0.006；GG 对 CC：OR=2.34，FDR-p=0.038；隐性：OR=2.13，FDR-p=0.045；加性：OR=1.39，FDR-p=0.030）与 LDH 发病风险增加相关。此外，还发现 LINC-PINT rs157916 和 rs780129 与男性 LDH 发病风险显著相关。“GGG”单倍型与 LDH 发病风险增加相关（OR=1.41，FDR-p=0.006）。MDR 分析表明，rs7801029 和 rs16873842 之间的相互作用与 LDH 发病风险增加相关（OR=1.47，p=0.004）。此外，rs157916 和 rs780129 不同基因型之间的 C 反应蛋白水平存在显著差异（p<0.05）。
结论
本研究表明，LINC-PINT 基因多态性（rs157916 和 rs7801029）被认为是汉族人群 LDH 的危险因素，为 LDH 的早期筛查、预防和诊断提供了科学依据。
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