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和/基因变异对鼻息肉慢性鼻窦炎易感性的影响:一项初步基因研究

The Effects of and / Variants in the Susceptibility to the Chronic Rhinosinusitis with Nasal Polyposis: A Pilot Genetic Study.

作者信息

Camargo Leandro Azevedo, Reis Angela Adamski da Silva, Rodrigues Stela Oliveira, Santos Rodrigo da Silva, Avelino Melissa Ameloti Gomes

机构信息

Departamento de Cirurgia, Faculdade de Medicina, Universidade Federal de Goiás, Goiânia 74.690-900, GO, Brazil.

Departamento de Bioquímica e Biologia Molecular, Instituto de Ciências Biológicas, Universidade Federal de Goiás, Goiânia 74.690-900, GO, Brazil.

出版信息

Biomedicines. 2024 Oct 18;12(10):2383. doi: 10.3390/biomedicines12102383.

Abstract

Nasal polyps (NPs) are usually part of chronic rhinosinusitis with nasal polyposis (CRSwNP). However, the exact etiology of CRSwNP is still unknown. In addition, the suggested etiological causes are infection, allergy, and immunological disorders, among others, such as genetic predisposition. Moreover, it is also suggested that oxygen-free radicals play a vital role in the pathogenesis of nasal polyposis, and inflammatory cells produce free radicals during phagocytosis, which is the primary source of ROS, controlled by the glutathione S-transferase (GST) system. Although, vascular endothelial growth factor (VEGF) plays an important role in angiogenesis, it is closely interwoven with the mobilization of inflammatory cells. This pilot study evaluated the association between genetic variant (rs28357093) and / deletion polymorphism in susceptibility to CRSwNP. A case-control study was conducted with 61 individuals diagnosed with CRSwNP and 100 healthy subjects. (rs28357093) and / deletion polymorphisms were genotyped by RFLP-PCR and SYBR Green real-time PCR, respectively. Individuals with allergic rhinitis carriers with AC genotype (rs28357093) presented a 4-fold increased risk to CRSwNP (OR = 4.20, 95% CI = 1.31 to 13.50; = 0.015). This evidence shows that the increased vascular permeability probably causes an inflamed nasal area leading to extensive edema and polyp growth. On the other hand, no association was verified for each genetic variant by inheritance models. Interestingly, the present genotype showed a protective effect on CRSwNP. In conclusion, additional studies that have larger groups in different geographic localizations may be useful to verify and assess the association between genetic variants and CRSwNP.

摘要

鼻息肉(NPs)通常是慢性鼻窦炎伴鼻息肉(CRSwNP)的一部分。然而,CRSwNP的确切病因仍然未知。此外,推测的病因包括感染、过敏和免疫紊乱等,如遗传易感性。此外,还表明氧自由基在鼻息肉病的发病机制中起重要作用,炎症细胞在吞噬过程中产生自由基,这是活性氧(ROS)的主要来源,由谷胱甘肽S-转移酶(GST)系统控制。虽然血管内皮生长因子(VEGF)在血管生成中起重要作用,但它与炎症细胞的动员密切相关。这项初步研究评估了基因变异(rs28357093)和/缺失多态性与CRSwNP易感性之间的关联。对61例诊断为CRSwNP的个体和100名健康受试者进行了病例对照研究。(rs28357093)和/缺失多态性分别通过限制性片段长度多态性聚合酶链反应(RFLP-PCR)和SYBR Green实时聚合酶链反应进行基因分型。携带AC基因型(rs28357093)的过敏性鼻炎个体患CRSwNP的风险增加了4倍(比值比[OR]=4.20,95%可信区间[CI]=1.31至13.50;P=0.015)。这一证据表明,血管通透性增加可能导致鼻腔区域发炎,进而导致广泛水肿和息肉生长。另一方面,通过遗传模型未证实每种基因变异之间存在关联。有趣的是,当前基因型对CRSwNP显示出保护作用。总之,在不同地理区域进行更大样本量的进一步研究可能有助于验证和评估基因变异与CRSwNP之间的关联。

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