In:
The Journal of Sexual Medicine, Oxford University Press (OUP), Vol. 16, No. 12 ( 2019-12-01), p. 1988-1999
Abstract:
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 & lt; .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 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.
Type of Medium:
Online Resource
ISSN:
1743-6109
,
1743-6095
DOI:
10.1016/j.jsxm.2019.09.012
Language:
English
Publisher:
Oxford University Press (OUP)
Publication Date:
2019
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