The endocannabinoid system’s genetic polymorphisms in sickle cell anemia patients

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MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.contributorUniversidade Federal de Mato Grosso do Sul (UFMS)-
Autor(es): dc.contributorUniversidade Federal de Pernambuco (UFPE)-
Autor(es): dc.contributorHEMOPE - Hematology and Hemotherapy Foundation-
Autor(es): dc.creatorBerti, Amanda Cristina Meneguetti-
Autor(es): dc.creatorde Castro, Vanessa da Silveira Ramos-
Autor(es): dc.creatorArcanjo, Gabriela Silva-
Autor(es): dc.creatorda Silva Araujo, Aderson-
Autor(es): dc.creatorLucena-Araujo, Antonio Roberto-
Autor(es): dc.creatorBezerra, Marcos André Cavalcanti-
Autor(es): dc.creatorGazarini, Lucas-
Autor(es): dc.creatorda Silva, Danilo Grünig Humberto-
Autor(es): dc.creatorBelini-Júnior, Edis-
Data de aceite: dc.date.accessioned2025-08-21T18:15:42Z-
Data de disponibilização: dc.date.available2025-08-21T18:15:42Z-
Data de envio: dc.date.issued2025-04-29-
Data de envio: dc.date.issued2024-11-30-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1038/s41598-024-76480-0-
Fonte completa do material: dc.identifierhttps://hdl.handle.net/11449/300450-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/300450-
Descrição: dc.descriptionSickle cell anemia (SCA) is a monogenic blood disease with complex and multifactorial pathophysiology. The endocannabinoid system (ECS) could be a candidate for modulating SCA complications, such as priapism, as it has demonstrated an essential role in hematopoiesis, platelet aggregation, and immune responses. We evaluated the association of ECS-related single nucleotide polymorphisms (SNP) (FAAH rs324420, MAGL rs604300, CNR1 rs7766029, and CNR2 rs35761398) with priapism in a Brazilian SCA cohort. The study involved 138 SCA patients (n = 80 with priapism and n = 58 without priapism). SCA was detected with HPLC, and the Hb SS genotype was confirmed with PCR-RE. Alpha thalassemia mutations were detected with Multiplex-PCR, and SNP genotyping was performed using TaqMan genotyping assays. We observed a lower frequency of -α3.7kb-thalassemia mutation in patients with priapism than in patients without this complication (p < 0.001), and in adjusted multivariate analyses TT-CC genotype of CNR2 rs35761398 was associated with a lower chance of developing priapism (OR = 0.386 [0.175–0.854], p = 0.019) and a lower risk of it over time (HR = 0.634 [0.402–0.987], p = 0.049). The SCA ischemic priapism is related to unbalanced vasodilation/vasoconstriction pathways, such as decreased RhoA/Rho-kinase (ROCK) signaling. Since activating the type 2 cannabinoid receptor (CB2) decreases RhoA activation, we suggest a novel approach to SCA priapism involving CB2.-
Descrição: dc.descriptionFundação de Apoio ao Desenvolvimento do Ensino, Ciência e Tecnologia do Estado de Mato Grosso do Sul-
Descrição: dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)-
Descrição: dc.descriptionInstitute of Biosciences Humanities and Exact Sciences Biosciences Postgraduate Program UNESP - São Paulo State University-
Descrição: dc.descriptionMolecular Biology and Genetics Laboratory (LGBM) UFMS - Federal University of Mato Grosso do Sul-
Descrição: dc.descriptionGenetics Postgraduate Program UFPE - Federal University of Pernambuco-
Descrição: dc.descriptionHEMOPE - Hematology and Hemotherapy Foundation-
Descrição: dc.descriptionInstitute of Biosciences Humanities and Exact Sciences Biosciences Postgraduate Program UNESP - São Paulo State University-
Descrição: dc.descriptionFundação de Apoio ao Desenvolvimento do Ensino, Ciência e Tecnologia do Estado de Mato Grosso do Sul: 155/2024-
Descrição: dc.descriptionCAPES: 88887.659679/2021-00-
Idioma: dc.languageen-
Relação: dc.relationScientific Reports-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectEndocannabinoids-
Palavras-chave: dc.subjectHemolysis-
Palavras-chave: dc.subjectPriapism-
Palavras-chave: dc.subjectPrognostic-
Título: dc.titleThe endocannabinoid system’s genetic polymorphisms in sickle cell anemia patients-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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