Department of Orthopaedics, Guangdong Second Provincial General Hospital, 466 Xingang Road, Haizhu District, 510317, Guangzhou, China.
Division of Orthopaedics and Traumatology, Department of Orthopaedics, Nanfang Hospital, Southern Medical University, 510515, Guangzhou, China.
BMC Med Genomics. 2024 Jan 29;17(1):38. doi: 10.1186/s12920-024-01799-6.
Single nucleotide polymorphisms (SNPs) in the nucleotide-binding domain leucine-rich repeat protein-3 (NLRP3) gene are reported to be linked to many inflammatory disorders. However, uncertainty persists over the associations between these SNPs and susceptibilities to chronic osteomyelitis (COM). This study aimed to investigate potential relationships between NLRP3 gene SNPs and the risks of developing COM in a Chinese Han cohort.
The four tag SNPs of the NLRP3 gene were genotyped in a total of 428 COM patients and 368 healthy controlsusing the SNapShot technique. The genotype distribution, mutant allele frequency, and the four genetic models (dominant, recessive, homozygous, and heterozygous) of the four SNPs were compared between the two groups.
A significant association was found between rs10754558 polymorphism and the probability of COM occurence by the heterozygous model (P = 0.037, odds ratio [OR] = 1.541, 95% confidence interval [CI] = 1.025-2.319), indicating that rs10754558 may be associated with a higher risk of developing COM.In addition, possible relationship was found between rs7525979 polymorphism and the risk of COM development by the outcomes of homozygous (P = 0.073, OR = 0.453, 95% CI = 0.187-1.097) and recessive (P = 0.093, OR = 0.478, 95% CI = 0.198-1.151) models, though no statistical differences were obtained.
Outcomes of the present study showed, for the first time, that rs10754558 polymorphism of the NLRP3 gene may increase the risk of COM development in this Chinese Han population, with genotype CG as a risk factor. Nonetheless, this conclusion requires verification from further studies with a larger sample size.
核苷酸结合域富含亮氨酸重复蛋白-3(NLRP3)基因的单核苷酸多态性(SNPs)与许多炎症性疾病有关。然而,这些 SNPs 与慢性骨髓炎(COM)易感性之间的关联仍然存在不确定性。本研究旨在探讨 NLRP3 基因 SNPs 与中国汉族人群发生 COM 的风险之间的潜在关系。
采用 SNapShot 技术对 428 例 COM 患者和 368 例健康对照者的 NLRP3 基因的 4 个标签 SNPs 进行基因分型。比较两组间四个 SNP 的基因型分布、突变等位基因频率以及四个遗传模型(显性、隐性、纯合和杂合)。
杂合模型 rs10754558 多态性与 COM 发生的概率显著相关(P=0.037,优势比[OR] = 1.541,95%置信区间[CI] = 1.025-2.319),表明 rs10754558 可能与 COM 发病风险增加相关。此外,还发现 rs7525979 多态性与 COM 发病风险相关,在纯合模型(P=0.073,OR = 0.453,95% CI = 0.187-1.097)和隐性模型(P=0.093,OR = 0.478,95% CI = 0.198-1.151)下有统计学意义。
本研究首次表明 NLRP3 基因 rs10754558 多态性可能增加中国汉族人群 COM 的发病风险,CG 基因型为危险因素。然而,这一结论需要进一步的研究来验证。