Association between inflammatory cytokine gene polymorphisms and asthma susceptibility in Chinese Han children: a retrospective case-control study for potential diagnostic biomarkers.
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OBJECTIVES: This retrospective case-control study aimed to examine asthma prevalence and associated risk factors among the Han Chinese population, with particular emphasis on evaluating the interplay between inflammatory cytokine profiles and genetic polymorphisms in asthma pathogenesis. METHODS: Conducted at Shanghai Seventh People's Hospital, the study recruited 480 pediatric asthma patients and 840 matched controls. Comprehensive data collection included standardized clinical evaluations and epidemiological questionnaires. Laboratory analyses comprised enzyme-linked immunosorbent assay (ELISA)-based quantification of interleukin-1β (IL-1β), interleukin-6 (IL-6), interleukin-10 (IL-10), interleukin-17 (IL-17), interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) genotyping of relevant polymorphisms. RESULTS: Asthma cases demonstrated markedly increased cytokine levels versus controls (P<0.05). Significant associations were found for IL-1β -511C/T (OR=1.88, 95% CI: 1.38-2.57, P<0.05), IL-10 -1082G/A (OR=1.65, 95% CI: 1.25-2.17, P<0.05), IFN-γ +2108 A/G (OR=2.36, 95% CI: 1.18-4.73, P<0.05), and TNF-α -308 G/A (OR=1.65, 95% CI: 1.25-2.17, P<0.05). CONCLUSIONS: Cytokine gene polymorphisms in IL-1B, IFN-γ, TNF-α, and IL1B are associated with altered inflammatory profiles in asthma, suggesting a genetic contribution to disease-related immune dysregulation. The findings establish that both cytokine dysregulation and specific genetic variants contribute to asthma susceptibility in the Chinese Han population. Our study suggests that these factors hold potential as biomarkers for the diagnosis and clinical prognosis of asthma.