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Please use this identifier to cite or link to this item:
http://hdl.handle.net/123456789/14
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| Title: | Stroke in Sickle Cell Disease |
| Phenotype: | Cerebrovascular Accident |
| Authors: | Ramoni, Marco |
| Keywords: | Stroke
Sickle Cell Anemia |
| Issue Date: | 11-Nov-2007 |
| Abstract: | Sickle cell anemia (SCA) is a paradigmatic single gene disorder caused by homozygosity with respect to a unique mutation at the beta-globin locus. SCA is phenotypically complex, with different clinical courses ranging from early childhood mortality to a virtually unrecognized condition. Overt stroke is a severe complication affecting 6-8% of individuals with SCA. Modifier genes might interact to determine the susceptibility to stroke, but such genes have not yet been identified. Using Bayesian networks, we analyzed 108 SNPs in 39 candidate genes in 1,398 individuals with SCA. We found that 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of stroke. This network of interactions includes three genes in the TGF-beta pathway and SELP, which is associated with stroke in the general population. We validated this model in a different population by predicting the occurrence of stroke in 114 individuals with 98.2% accuracy. |
| Description: | Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH. Genetic
dissection and prognostic modeling of overt stroke in sickle cell anemia.
Nat Genet. 2005 Apr;37(4):435-40.
A link to pubmed
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermTo
Search=15778708&ordinalpos=25&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_Resu
ltsPanel.Pubmed_RVDocSum |
| Appears in Collections: | HVO collection
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