Dinarte Vanessa Ramos Pires, Santos Anemari Ramos Dinarte Dos, Araújo Luiza Ferreira de, Reis Mariah Guieiro Alves Dos, Tamashiro Edwin, Valera Fabiana Cardoso Pereira, Silva Júnior Wilson Araújo da, Anselmo-Lima Wilma Terezinha
Escola de Medicina de Marília, Departamento de Otorrinolaringologia, Divisão de Otorrinolaringologia, Marília, SP, Brazil.
Hemocentro de Ribeirão Preto, Centro Regional de Hemoterapia, Laboratório de Genética Molecular e Bioinformática (LGMB), Ribeirão Preto, SP, Brazil.
Braz J Otorhinolaryngol. 2017 Nov-Dec;83(6):705-711. doi: 10.1016/j.bjorl.2017.03.002. Epub 2017 Mar 23.
Chronic rhinosinusitis with nasal polyps is a multifactorial disease with a complex pathophysiology involving multiple genetic and environmental factors.
The purpose of this work review is to focus on the importance of genetic studies in chronic rhinosinusitis with nasal polyps besides the several barriers that exists for its understanding.
A systematic review on studies of association between single nucleotide polymorphisms and chronic rhinosinusitis with nasal polyps based on a PubMed/Medline and Periódicos CAPES search of all articles published between January 2005 and January 2015 was made. The search was guided on studies containing the terms polymorphisms, rhinosinusitis, and polyps.
Two studies found an association of MMP-9 and MMP-2 polymorphisms and chronic rhinosinusitis with nasal polyps, but not in patients with recurrent nasal polyps. Other studies found an association of nasal polyps with MMP-9 polymorphisms, but not with MMP-2 ones. There is evidence of an association of LTC4S, NOS2A, PTGDR, MET, COX-2, OSF-2, and LF polymorphisms and the risk of developing nasal polyps, especially when combined with chronic allergic rhinitis and asthma.
Genetic studies on chronic rhinosinusitis with nasal polyps are promising and may offer insights into its pathophysiology, which is likely affected by multiple genetic factors.
伴鼻息肉的慢性鼻-鼻窦炎是一种多因素疾病，其病理生理复杂，涉及多种遗传和环境因素。
本综述的目的是关注基因研究在伴鼻息肉的慢性鼻-鼻窦炎中的重要性，以及在理解该疾病过程中存在的若干障碍。
基于对2005年1月至2015年1月期间发表在PubMed/Medline和Periódicos CAPES上的所有文章进行检索，对单核苷酸多态性与伴鼻息肉的慢性鼻-鼻窦炎之间的关联研究进行系统综述。检索以包含多态性、鼻-鼻窦炎和息肉等术语的研究为导向。
两项研究发现MMP-9和MMP-2多态性与伴鼻息肉的慢性鼻-鼻窦炎有关联，但复发性鼻息肉患者无此关联。其他研究发现鼻息肉与MMP-9多态性有关联，但与MMP-2多态性无关。有证据表明LTC4S、NOS2A、PTGDR、MET、COX-2、OSF-2和LF多态性与鼻息肉发生风险有关，尤其是与慢性变应性鼻炎和哮喘合并存在时。
伴鼻息肉的慢性鼻-鼻窦炎的基因研究前景广阔，可能为其病理生理学提供见解，该病理生理学可能受多种遗传因素影响。
