Genetic polymorphisms associated with priapism in sickle cell disease

Laine Elliott, Allison E. Ashley-Koch, Laura De Castro, Jude Jonassaint, Jennifer Price, Kenneth I. Ataga, Marc C. Levesque, J. Brice Weinberg, James R. Eckman, Eugene P. Orringer, Jeffery M. Vance, Marilyn J. Telen

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


Priapism occurs in 30-45% of male patients with sickle cell disease (SCD), but the possible influence of genetic risk factors on the incidence of priapism is not well understood. We examined genetic polymorphisms in 199 unrelated, adult (>18 years), male patients with Hb SS and Hb Sβ0- thalassaemia, 83 (42%) of whom reported a history of priapism. Candidate genes for association with priapism were identified based on their involvement in adhesion, coagulation, inflammation and cell signalling. Additionally, we examined genes involved in nitric oxide biology (NOS2, NOS3, SLC4A1), as well as polymorphisms in the klotho (KL) gene, which has previously been associated with priapism. Strong evidence of association was found for single nucleotide polymorphisms in transforming growth factor-β receptor, type III (TGFBR3) (rs7526590; P = 0·00058), aquaporin (AQP1) (rs10244884; P = 0·00068), integrin αv (ITGAV) (rs3768780; P = 0·00090), and the A1 subunit of coagulation factor XIII (F13A1) (hcv1860621; P = 0·00156). Associations with TGFBR3, AQP1, and ITGAV remained significant after adjusting for multiple testing, using the Benjamini-Hochberg procedure. Our data suggest that genes involved in the TGFβ pathway, coagulation, cell adhesion and cell hydration pathways may be important in risk for priapism.

Original languageEnglish (US)
Pages (from-to)262-267
Number of pages6
JournalBritish Journal of Haematology
Issue number3
StatePublished - May 2007
Externally publishedYes


  • Priapism
  • Sickle cell
  • Single nucleotide polymorphisms
  • TGFBR3

ASJC Scopus subject areas

  • Hematology


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