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

Cardoso JV, Jéssica Vilarinho Cardoso, Rui Medeiros, Francisca Dias, Isabelle Alves Costa, Costa IA, Renato Ferrari, Ferrari R, Berardo PT, Plinio Tostes Berardo, Plínio Tostes Berardo, Jamila Alessandra Perini
Experimental and molecular pathology · 2021 · vol. 119 , pp. 104616 · doi:10.1016/j.yexmp.2021.104616 · PMID:33535080 · W3128369641
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This case-control and review study investigated the association between DROSHA rs10719 and DICER1 rs3742330 polymorphisms and endometriosis, as well as other diseases.

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Abstract

ObjectiveDROSHA 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.MethodsA 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.ResultsDICER1 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.ConclusionsThe 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.

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Condition tags

endometriosis

MeSH descriptors

DEAD-box RNA Helicases Endometriosis Genetic Predisposition to Disease Polymorphism, Single Nucleotide Ribonuclease III Adult Alleles Case-Control Studies DEAD-box RNA Helicases Endometriosis Female Gene Frequency Gene Frequency Humans Polymorphism, Single Nucleotide Ribonuclease III

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europepmc
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