肿瘤坏死因子-α（-308A/G，rs1800629）和白细胞介素-13（R130Q，rs20541）基因多态性作为科威特人群试点队列中重度哮喘的预测指标：年龄、鼻息肉、呼出一氧化氮分数和血液嗜酸性粒细胞计数的影响
Tumor Necrotic Factor-Alpha (-308A/G, rs1800629) and Interleukin-13 (R130Q, rs20541) Gene Polymorphisms as Predictors of Severe Asthma in Pilot Cohort of Kuwaiti Population: Influence of Age, Nasal Polyps, Fractional Exhaled Nitric Oxide, and Blood Eosinophil Count.
作者信息
Al-Ahmad Mona, Ali Asmaa, Maher Ahmed, Haider Mohammad Z
机构信息
Department of Microbiology, College of Medicine, Kuwait University, Kuwait City, Kuwait.
Department of Allergy, Al-Rashed Allergy Center, Ministry of Health, Kuwait City, Kuwait.
出版信息
J Asthma Allergy. 2025 Jun 3;18:903-914. doi: 10.2147/JAA.S525643. eCollection 2025.
BACKGROUND
Genetic factors, along with sociodemographic characteristics, are believed to play a significant role in asthma pathogenesis.
OBJECTIVE
This study investigated the role of Interleukin-13 (IL-13) and Tumor Necrosis Factor-alpha (TNF-α) gene polymorphisms, in conjunction with clinical characteristics, in predicting asthma severity.
METHODS
A total of 214 asthma patients (98 mild, 116 severe) and 121 healthy individuals were genotyped using PCR-RFLP for IL-13 (R130Q, rs20541) and TNF-α (-308A/G, rs1800629) polymorphisms. Sociodemographic and clinical data were collected for statistical analysis.
RESULTS
Compared to controls, the "Q" allele of the IL-13 gene increased the risk of mild asthma twofold but had no significant impact on severe asthma. Conversely, the "G" allele of the TNF-α gene increased the risk of mild asthma twofold and severe asthma threefold. Additionally, the TNF-α "GG" genotype was associated with a sixfold increased risk of asthma, while the "AG" genotype had a protective effect. In the comparison of mild versus severe asthma, the IL-13 "QQ" pattern was protective, while the TNF-α "GG" genotype increased the risk of severe asthma threefold, with "AG" being protective. Severe asthma patients were older, significantly associated with comorbid nasal polyposis (NP), had higher levels of FeNO and blood eosinophils. Logistic regression analysis identified the TNF-α "GG" genotype as independent significant predictor of asthma severity, whereas IL-13 polymorphism showed no association.
CONCLUSION
The TNF-α "GG" genotype emerges as a significant independent predictor of asthma severity, substantially increasing the risk of both mild and severe asthma. In contrast, IL-13 polymorphism, while associated with mild asthma, plays no significant role in severe asthma. Furthermore, severe asthma was strongly linked to older age, nasal polyposis, elevated FeNO levels, and blood eosinophils.
背景
遗传因素与社会人口学特征被认为在哮喘发病机制中起重要作用。
目的
本研究调查白细胞介素-13（IL-13）和肿瘤坏死因子-α（TNF-α）基因多态性结合临床特征在预测哮喘严重程度中的作用。
方法
采用聚合酶链反应-限制性片段长度多态性方法（PCR-RFLP）对214例哮喘患者（98例轻度，116例重度）和121例健康个体进行IL-13（R130Q，rs20541）和TNF-α（-308A/G，rs1800629）基因多态性基因分型。收集社会人口学和临床数据进行统计分析。
结果
与对照组相比，IL-13基因的“Q”等位基因使轻度哮喘风险增加两倍，但对重度哮喘无显著影响。相反，TNF-α基因的“G”等位基因使轻度哮喘风险增加两倍，重度哮喘风险增加三倍。此外，TNF-α“GG”基因型与哮喘风险增加六倍相关，而“AG”基因型具有保护作用。在轻度与重度哮喘的比较中，IL-13“QQ”模式具有保护作用，而TNF-α“GG”基因型使重度哮喘风险增加三倍，“AG”具有保护作用。重度哮喘患者年龄较大，与合并鼻息肉（NP）显著相关，呼出一氧化氮（FeNO）和血液嗜酸性粒细胞水平较高。逻辑回归分析确定TNF-α“GG”基因型是哮喘严重程度的独立显著预测因子，而IL-13多态性无相关性。
结论
TNF-α“GG”基因型是哮喘严重程度的显著独立预测因子，大幅增加轻度和重度哮喘风险。相比之下，IL-13多态性虽与轻度哮喘相关，但在重度哮喘中不起显著作用。此外，重度哮喘与年龄较大、鼻息肉、FeNO水平升高和血液嗜酸性粒细胞密切相关。
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