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Title: Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study
Authors: OZAHATA, Mina CinthoPAGE, Grier P.GUO, YuelongFERREIRA, Joao EduardoDINARDO, Carla LuanaCARNEIRO-PROIETTI, Anna Barbara F.LOUREIRO, PaulaMOTA, Rosimere AfonsoRODRIGUES, Daniela O. W.BELISARIO, Andre RolimMAXIMO, ClaudiaFLOR-PARK, Miriam V.CUSTER, BrianKELLY, ShannonSABINO, Ester Cerdeira
Citation: JOURNAL OF SEXUAL MEDICINE, v.16, n.12, p.1988-1999, 2019
Abstract: Introduction: Priapism is the persistent and painful erection of the penis and is a common sickle cell disease (SCD) complication. Aim: The goal of this study was to characterize clinical and genetic factors associated with priapism within a large multi-center SCD cohort in Brazil. Methods: Cases with priapism were compared to SCD type-matched controls within defined age strata to identify clinical outcomes associated with priapism. Whole blood single nucleotide polymorphism genotyping was performed using a customized array, and a genome-wide association study (GWAS) was conducted to identify single nucleotide polymorphisms associated with priapism. Main Outcome Measure: Of the 1,314 male patients in the cohort, 188 experienced priapism (14.3%). Results: Priapism was more common among older patients (P=.006) and more severe SCD genotypes such as homozygous SS (P<.0001). In the genotype- and age-matched analyses, associations with priapism were found for pulmonary hypertension (P=.05) and avascular necrosis (P=.01). The GWAS suggested replication of a previously reported candidate gene association of priapism for the gene transforming growth factor beta receptor 3 (TGFBR3) (P = 2 x 10(-4)). Clinical Implications: Older patients with more severe genotypes are at higher risk of priapism, and there is a lack of consensus on standard treatment strategies for priapism in SCD. Strengths & Limitations: This study characterizes SCD patients with any history of priapism from a large multi-center cohort. Replication of the GWAS in an independent cohort is required to validate the results. Conclusion: These findings extend the understanding of risk factors associated with priapism in SCD and identify genetic markers to be investigated in future studies to further elucidate priapism pathophysiology.
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Artigos e Materiais de Revistas Científicas - FM/MIP
Departamento de Moléstias Infecciosas e Parasitárias - FM/MIP

Artigos e Materiais de Revistas Científicas - HC/ICr
Instituto da Criança - HC/ICr

Artigos e Materiais de Revistas Científicas - LIM/13
LIM/13 - Laboratório de Genética e Cardiologia Molecular

Artigos e Materiais de Revistas Científicas - LIM/31
LIM/31 - Laboratório de Genética e Hematologia Molecular

Artigos e Materiais de Revistas Científicas - LIM/46
LIM/46 - Laboratório de Parasitologia Médica

Artigos e Materiais de Revistas Científicas - ODS/03
ODS/03 - Saúde e bem-estar

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