RGD Reference Report - Genetic polymorphisms associated with priapism in sickle cell disease. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Genetic polymorphisms associated with priapism in sickle cell disease.

Authors: Elliott, L  Ashley-Koch, AE  De Castro, L  Jonassaint, J  Price, J  Ataga, KI  Levesque, MC  Brice Weinberg, J  Eckman, JR  Orringer, EP  Vance, JM  Telen, MJ 
Citation: Elliott L, etal., Br J Haematol. 2007 May;137(3):262-7.
RGD ID: 10450728
Pubmed: PMID:17408468   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2141.2007.06560.x   (Journal Full-text)

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 Sbeta(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 alphav (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 TGFbeta pathway, coagulation, cell adhesion and cell hydration pathways may be important in risk for priapism.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
F13A1Humanpriapism susceptibilityIAGP associated with sickle cell anemia and DNA:SNPs::multiple(human)RGD 
F13a1Ratpriapism susceptibilityISOF13A1 (Homo sapiens)associated with sickle cell anemia and DNA:SNPs::multiple(human)RGD 
F13a1Mousepriapism susceptibilityISOF13A1 (Homo sapiens)associated with sickle cell anemia and DNA:SNPs::multiple(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
F13a1  (coagulation factor XIII A1 chain)

Genes (Mus musculus)
F13a1  (coagulation factor XIII, A1 subunit)

Genes (Homo sapiens)
F13A1  (coagulation factor XIII A chain)


Additional Information