Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study |
| |
| Authors: | Mina Cintho Ozahata Grier P. Page Yuelong Guo João Eduardo Ferreira Carla Luana Dinardo Anna Bárbara F. Carneiro-Proietti Paula Loureiro Rosimere Afonso Mota Daniela O.W. Rodrigues André Rolim Belisario Claudia Maximo Miriam V. Flor-Park Brian Custer Shannon Kelly Ester Cerdeira Sabino |
| |
| Affiliation: | 1. University of São Paulo, São Paulo, Brazil;2. RTI International, Research Triangle Park, Durham, NC, USA;3. Pró-Sangue Foundation, São Paulo, Brazil;4. Hemominas Foundation, Belo Horizonte, Brazil;5. Hemope Foundation and University of Pernambuco, Recife, Brazil;6. Hemorio Foundation, Rio de Janeiro, Brazil;7. Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil;8. Vitalant Research Institute, San Francisco, CA, USA;9. UCSF Benioff Children’s Hospital Oakland, Oakland, CA, USA |
| |
| Abstract: | IntroductionPriapism is the persistent and painful erection of the penis and is a common sickle cell disease (SCD) complication.AimThe goal of this study was to characterize clinical and genetic factors associated with priapism within a large multi-center SCD cohort in Brazil.MethodsCases 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 MeasureOf the 1,314 male patients in the cohort, 188 experienced priapism (14.3%).ResultsPriapism 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 × 10?4).Clinical ImplicationsOlder 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 & LimitationsThis 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.ConclusionThese 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.Ozahata M, Page GP, Guo Y, et al. Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study. J Sex Med 2019;16:1988–1999. |
| |
| Keywords: | for the Sickle Cell Disease Priapism Genome-Wide Association Study Single Nucleotide Polymorphism |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
