Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia

Nature Genetics

Volumn 37, Issue 4, 2005, Pages 435-440

  Sebastiani, Paola ^a   Ramoni, Marco F ^b   Nolan, Vikki ^a   Baldwin, Clinton T ^c   Steinberg, Martin H ^c  

^a BOSTON UNIVERSITY   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA MODIFICATION; GENE IDENTIFICATION; GENE INTERACTION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MOLECULAR MODEL; MOLECULAR RECOGNITION; MORTALITY; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; SICKLE CELL ANEMIA; STROKE;

ANEMIA, SICKLE CELL; CEREBROVASCULAR ACCIDENT; FETAL HEMOGLOBIN; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEMOGLOBIN, SICKLE; HUMANS; MAGNETIC RESONANCE IMAGING; MODELS, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; RISK FACTORS; SIGNAL TRANSDUCTION;

EID: 16844366938     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1533     Document Type: Article

References (30)

1. Adams, R.J. et al. Stroke and conversion to high risk in children screened with transcranial Doppler ultrasound during the STOP study. Blood 103, 3689-3694 (2004).
2. Steinberg, M.H., Forget, B.G., Higgs, D.R. & Nagel, R.L Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management (Cambridge University Press, Cambridge, 2001).
3. Ware, R.E., Zimmerman, S.A. & Schultz, W.H. Hydroxyurea as an alternative to blood transfusions for the prevention of recurrent stroke in children with sickle cell disease. Blood 94, 3022-3026 (1999).
4. Adams, R.J. et al. Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. N. Engl. J. Med. 339, 5-11 (1998).
5. Taylor, J.G.t. et al. Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease. Blood 100, 4303-4309 (2002).
6. Hoppe, C. et al. Gene interactions and stroke risk in children with sickle cell anemia. Blood 103, 2391-2396 (2004).
7. Adams, R.J. et al. Alpha thalassemia and stroke risk in sickle cell anemia. Am. J. Hematol. 45, 279-282 (1994).
8. Platt, O.S. et al. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N. Engl. J. Med. 330, 1639-1644 (1994).
9. Gaston, M. et al. Recruitment in the Cooperative Study of Sickle Cell Disease (CSSCD). Control Clin. Trials 8, 131S-140S (1987).
10. Gabriel, S.B. et al. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat. Genet. 31, 89-93 (2002).
11. Collins, F.S., Green, E.D., Guttmacher, A.E. & Guyer, M.S. A vision for the future of genomics research. Nature 422, 835-847 (2003).
12. Carlson, C.S., Eberle, M.A., Kruglyak, L. & Nickerson, D.A. Mapping complex disease loci in whole-genome association studies. Nature 429, 446-452 (2004).
13. Friedman, N. Inferring cellular networks using probabilistic graphical models. Science 303, 799-805 (2004).
14. Jansen, R. et al. A Bayesian networks approach for predicting protein-protein interactions from genomic data. Science 302, 449-453 (2003).
15. Lauritzen, S.L. & Sheehan, N.A. Graphical models for genetic analysis. Statist. Sci. 18, 489-514 (2004).
16. Cowell, R.G., Dawid, A.P., Lauritzen, S.L. & Spiegelhalter, D.J. Probabilistic Networks and Expert Systems (Springer, New York, 1999).
17. Chakravarti, A. Population genetics-making sense out of sequence. Nat. Genet. 21, 56-60 (1999).
18. Hoh, J. & Ott, J. Mathematical multi-locus approaches to localizing complex human trait genes. Nat. Rev. Genet. 4, 701-709 (2003).
19. Hand, D.J., Mannila, H. & Smyth, P. Principles of Data Mining (MIT Press, Cambridge, Massachusetts, 2001).
20. Ling, Q. et al. Annexin II regulates fibrin homeostasis and neoangiogenesis in vivo. J. Clin. Invest. 113, 38-48 (2004).
21. Angerio, A.D. & Lee, N.D. Sickle cell crisis and endothelin antagonists. Crit. Care Nurs. Q. 26, 225-229 (2003).
22. Brown, C.B., Boyer, A.S., Runyan, R.B. & Barnett, J.V. Requirement of type III TGF-beta receptor for endocardial cell transformation in the heart. Science 283, 2080-2082 (1999).
23. Zee, R.Y. et al. Polymorphism in the P-selectin and interleukin-4 genes as determinants of stroke: a population-based, prospective genetic analysis. Hum. Mol. Genet. 13, 389-396 (2004).
24. Alexander, N., Higgs, D., Dover, G. & Serjeant, G.R. Are there clinical phenotypes of homozygous sickle cell disease? Br. J. Haematol. 126, 606-611 (2004).
25. Steinberg, M.H. et al. Association of polymorphisms in genes of the transforming growth factor-beta pathway with sickle cell osteonecrosis. Blood 102, 262A-263A (2003).
26. Botstein, D. & Risch, N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat. Genet. 33 Suppl: 228-237 (2003).
27. Beaumont, M.A. & Rannala, B. The Bayesian revolution in genetics. Nat. Rev. Genet. 5, 251-261 (2004).
28. Ohene-Frempong, K. et al. Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood 91, 288-294 (1998).
29. Chiu, N.H. et al. Mass spectrometry of single-stranded restriction fragments captured by an undigested complementary sequence. Nucleic Acids Res. 28, E31 (2000).
30. Cooper, G.F. & Herskovitz, G.F. A Bayesian method for the induction of probabilistic networks from data. Mach. Learn. 9, 309-347 (1992).