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

• Published in: Scientific reports 2024-12, Vol.14 (1), p.31562-9, Article 31562
• Main Authors: Berti, Amanda Cristina Meneguetti, de Castro, Vanessa da Silveira Ramos, Arcanjo, Gabriela Silva, da Silva Araujo, Aderson, Lucena-Araujo, Antonio Roberto, Bezerra, Marcos André Cavalcanti, Gazarini, Lucas, da Silva, Danilo Grünig Humberto, Belini-Júnior, Edis
• Format: Article
• Language: English
• Subjects: 631/1647/1513/2192; 631/208; 631/337; 692/53/2422; Adolescent; Adult; Anemia; Anemia, Sickle Cell - complications; Anemia, Sickle Cell - genetics; Blood diseases; Brazil; Cannabinoid CB2 receptors; Endocannabinoid system; Endocannabinoids; Endocannabinoids - genetics; Endocannabinoids - metabolism; Fatty-acid amide hydrolase; Female; Gene polymorphism; Genetic Predisposition to Disease; Genital diseases; Genotype; Genotyping; Hemolysis; Hemopoiesis; Humanities and Social Sciences; Humans; Immune response; Ischemia; Kinases; Liquid chromatography; Male; multidisciplinary; Mutation; Platelet aggregation; Polymerase chain reaction; Polymorphism, Single Nucleotide; Priapism; Priapism - etiology; Priapism - genetics; Prognostic; Receptor, Cannabinoid, CB2 - genetics; Rho-associated kinase; RhoA protein; Science; Science (multidisciplinary); Sickle cell anemia; Sickle cell disease; Single-nucleotide polymorphism; Thalassemia; Vasoconstriction; Vasodilation; Young Adult
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-024-76480-0

Sickle 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 -α 3.7kb -thalassemia mutation in patients with priapism than in patients without this complication ( p