Journal
BRITISH JOURNAL OF HAEMATOLOGY
Volume 137, Issue 3, Pages 262-267Publisher
BLACKWELL PUBLISHING
DOI: 10.1111/j.1365-2141.2007.06560.x
Keywords
priapism; single nucleotide polymorphisms; sickle cell; TGFBR3; ITGAV
Categories
Funding
- NHLBI NIH HHS [U54HL070769, R01HL68959] Funding Source: Medline
- NIDDK NIH HHS [R21DK066605] Funding Source: Medline
Ask authors/readers for more resources
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 S beta(0)-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-beta receptor, type III (TGFBR3) (rs7526590; P = 0.00058), aquaporin (AQP1) (rs10244884; P = 0.00068), integrin alpha v (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 TGF beta pathway, coagulation, cell adhesion and cell hydration pathways may be important in risk for priapism.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available