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. 2024 Jan 29;17(1):38.
doi: 10.1186/s12920-024-01799-6.

Chronic osteomyelitis risk is associated with NLRP3 gene rs10754558 polymorphism in a Chinese Han Population

Yu-Dun Qu #  1 , Nan Jiang #  2 , Jia-Xuan Li  1 , Wei Zhang  1 , Chang-Liang Xia  1 , Shuan-Ji Ou  1 , Yang Yang  1 , Yun-Fei Ma  2 , Yong Qi  3 , Chang-Peng Xu  4
Affiliations

Chronic osteomyelitis risk is associated with NLRP3 gene rs10754558 polymorphism in a Chinese Han Population

Yu-Dun Qu et al. BMC Med Genomics. .

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: Case-control study; Chronic osteomyelitis; Single nucleotide polymorphisms; rs10754558; rs7525979.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
SNaPshot genotyping. The rs10754558, rs7525979, rs35829419, and rs4612666 single nucleotide polymorphisms of the nucleotide-binding domain and leucine-rich repeat protein-3 gene were analyzed using the SNaPshot technique (Supplementary Table S2)
Fig. 2
Fig. 2
Distribution map of infection sites of the COM patients. The number of patients involved is given at each site, along with the percentage of the total number of 428 patients
Fig. 3
Fig. 3
Expression of the NLRP3 gene in osteoblasts. NLRP3 gene expression was analyzed in osteoblasts cultured under normal conditions (control) and those cultured in the presence of TNF-α (inflammatory microenvironment). NLRP3, nucleotide-binding domain and leucine-rich repeat protein-3; TNF-α, tumor necrosis factor-α, *P = 0.015
Fig. 4
Fig. 4
Linkage disequilibrium analysis. The r2 hot graph for the single nucleotide polymorphisms of the nucleotide-binding domain and leucine-rich repeat protein-3 gene: rs10754558, rs7525979, and rs35829419
Fig. 5
Fig. 5
Cytokine levels in patients with chronic osteomyelitis. Serum levels of a IL-6 and b TNF-α were compared among different genotypes of the single nucleotide polymorphism rs10754558. IL-6, interleukin-6; TNF-α, tumor necrosis factor-α
Fig. 6
Fig. 6
Cytokine levels in patients with chronic osteomyelitis. Serum levels of a IL-6 and b TNF-α were compared among different genotypes of the single nucleotide polymorphism rs7525979. IL-6, interleukin-6; TNF-α, tumor necrosis factor-α
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