DROSHA rs10719 and DICER1 rs3742330 polymorphisms in endometriosis and different diseases: Case-control and review studies.

Autor: Cardoso JV; Laboratório de Pesquisa de Ciências Farmacêuticas, Unidade de Farmácia, Centro Universitário Estadual da Zona Oeste, Rio de Janeiro, RJ, Brazil; Programa de Pós-guaduação em Saúde Pública e Meio Ambiente, Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brazil., Medeiros R; Grupo de Oncologia Molecular -CI, Instituto Português de Oncologia, Porto, Portugal., Dias F; Grupo de Oncologia Molecular -CI, Instituto Português de Oncologia, Porto, Portugal., Costa IA; Laboratório de Pesquisa de Ciências Farmacêuticas, Unidade de Farmácia, Centro Universitário Estadual da Zona Oeste, Rio de Janeiro, RJ, Brazil., Ferrari R; Instituto de Ginecologia, Hospital Moncorvo Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Berardo PT; Departamento de Ginecologia, Faculdade de Medicina, Universidade Estácio de Sá, Rio de Janeiro, RJ, Brazil; Serviço de Ginecologia, Hospital Federal dos Servidores do Estado, Rio de Janeiro, RJ, Brazil., Perini JA; Laboratório de Pesquisa de Ciências Farmacêuticas, Unidade de Farmácia, Centro Universitário Estadual da Zona Oeste, Rio de Janeiro, RJ, Brazil; Programa de Pós-guaduação em Saúde Pública e Meio Ambiente, Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brazil. Electronic address: jamilaperini@yahoo.com.br.
Jazyk: angličtina
Zdroj: Experimental and molecular pathology [Exp Mol Pathol] 2021 Apr; Vol. 119, pp. 104616. Date of Electronic Publication: 2021 Jan 31.
DOI: 10.1016/j.yexmp.2021.104616
Abstrakt: Objective: DROSHA and DICER1 enzymes participate in the main stages of microRNA synthesis. Polymorphisms can influence mRNAs stability and genes expression, and hence affect the binding of miRNAs. Thus, the present study evaluated the association of DROSHA and DICER1 polymorphisms in the development of endometriosis and other diseases.
Methods: A total of 240 endometriosis cases and 242 controls were genotyped for the DROSHA rs10719 G > A and DICER1 rs3742330 A > G polymorphisms using the TaqMan system. The association between polymorphisms and endometriosis was estimated by binary logistic regression. A literature review was also performed including all published articles (PubMed database) until December 2020, regarding the association of the studied polymorphisms and different diseases.
Results: DICER1 rs3742330GG was only found in endometriosis cases (2.1%) and deep infiltrative endometriosis (DIE) (2.5%). The DICER1 rs3742330GG genotype was significantly associated with endometriosis (P < 0.05), suggesting a tendency to present an increased risk for disease. DROSHA rs10719A and DICER1 rs3742330G allele frequencies varied among populations (6%-79% and 10.2%-55.1%, respectively). In the Brazilian population, the frequencies of these alleles were 42.3% and 7.3%, respectively. Both polymorphisms were risk factors for nonsyndromic orofacial clefts, tuberculosis, stroke ischemia and mortality after stroke, recurrent idiopathic pregnancy loss, and some types of cancer. Moreover, the DICER1 rs3742330 polymorphism was a protective factor for precancerous cervical lesions, different types of cancer and tuberculosis.
Conclusions: The results suggest that only the DICER1 rs3742330 A > G polymorphism may be associated with susceptibility to endometriosis. The frequencies of both polymorphisms were significantly different among populations, and there were discrepancies in the risk associations with the development of diseases.
(Copyright © 2021 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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