Fetal hemoglobin in sickle cell anemia: Genetic determinants of response to hydroxyurea

Pharmacogenomics Journal

Volumn 7, Issue 6, 2007, Pages 386-394

  Ma, Q ^a   Wyszynski, D F ^a   Farrell, J J ^a   Kutlar, A ^b   Farrer, L A ^a   Baldwin, C T ^a   Steinberg, M H ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MEDICAL COLLEGE OF GEORGIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

(S) 2 HYDROXY ACID OXIDASE; ARGINASE; ARGINASE 2; HEMOGLOBIN F; HYDROXYUREA; NEURONAL NITRIC OXIDE SYNTHASE; PLACEBO; UNCLASSIFIED DRUG; VASCULOTROPIN RECEPTOR 1;

ADULT; ARTICLE; CELL PROLIFERATION; CHROMOSOME 6Q; CHROMOSOME 8Q; CHROMOSOME XP; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DOUBLE BLIND PROCEDURE; DRUG BLOOD LEVEL; DRUG CLEARANCE; DRUG DOSE INCREASE; DRUG EFFICACY; DRUG METABOLISM; DRUG RESPONSE; ERYTHROID PRECURSOR CELL; FOLLOW UP; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MULTICENTER STUDY; MULTIPLE LINEAR REGRESSION ANALYSIS; NONLINEAR REGRESSION ANALYSIS; NUCLEOTIDE SEQUENCE; PATIENT COMPLIANCE; PHARMACOGENETICS; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; RANDOMIZED CONTROLLED TRIAL; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ALCOHOL OXIDOREDUCTASES; ANEMIA, SICKLE CELL; ANTISICKLING AGENTS; ARGINASE; BIOTRANSFORMATION; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 8; DOUBLE-BLIND METHOD; ERYTHROPOIESIS; FETAL HEMOGLOBIN; GENOTYPE; HUMANS; HYDROXYUREA; LINKAGE DISEQUILIBRIUM; NITRIC OXIDE SYNTHASE TYPE I; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEVERITY OF ILLNESS INDEX; TIME FACTORS; TREATMENT OUTCOME; UNITED STATES; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-1;

EID: 36549089997     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/sj.tpj.6500433     Document Type: Article

References (49)

1. 2 on the polymerization of hemoglobin S at physiologic ligand saturations. Proc Natl Acad Sci USA 1993; 90: 5039-5043.
2. Milner PF, Kraus AP, Sebes JI, Sleeper LA, Dukes KA, Embury SH et al. Sickle cell disease as a cause of osteonecrosis of the femoral head. N Engl J Med 1991; 325: 1476-1481.
3. Castro O, Brambilla DJ, Thorington B, Reindorf CA, Scott RB, Gillette P et al. The acute chest syndrome in sickle cell disease: Incidence and risk factors. The cooperative study of sickle cell disease. Blood 1994; 84: 643-649.
4. Platt OS, Thorington BD, Brambilla DJ, Milner PF, Rosse WF, Vichinsky E et al. Pain in sickle cell disease-rates and risk factors. N Engl J Med 1991; 325: 11-16.
5. Platt OS, Brambilla DJ, Rosse WF, Milner PF, Castro O, Steinberg MH et al. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med 1994; 330: 1639-1644.
6. Steinberg MH. Therapies to increase fetal hemoglobin in sickle cell disease. Curr Hematol Rep 2003; 2: 95-101.
7. Platt OS, Orkin SH, Dover G, Beardsley GP, Miller B, Nathan DG. Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. J Clin Invest 1984; 74: 652-656.
8. Dover GJ, Humphries RK, Moore IG, Ley TJ, Young NS, Charache S et al. Hydroxyurea induction of hemoglobin F production in sickle cell disease: Relationship between cytotoxicity and F cell production. Blood 1986; 67: 735-738.
9. Charache S, Dover GJ, Moore RD, Eckert S, Ballas SK, Koshy M et al. Hydroxyurea: Effects on hemoglobin F production in patients with sickle cell anemia. Blood 1992; 79: 2555-2565.
10. Charache 5, Terrin ML, Moore RD, Dover GJ, Barton FB, Eckert SV et al. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. N Engl J Med 1995; 332: 1317-1322.
11. Steinberg MH, Lu ZH, Barton FB, Terrin ML, Charache S, Dover GJ. Fetal hemoglobin in sickle cell anemia: Determinants of response to hydroxyurea. Multicenter study of hydroxyurea. Blood 1997; 89 1078-1088.
12. Bakanay SM, Dainer E, Clair B, Adekile A, Daitch L, Wells L et al. Mortality in sickle cell patients on hydroxyurea therapy. Blood 2005; 105: 545-547.
13. Zimmerman SA, Schultz WH, Davis IS, Pickens CV, Mortier NA, Howard TA et al. Sustained long-term hematologic efficacy of hydroxyurea at maximum tolerated dose in children with sickle cell disease. Blood 2004; 103: 2039-2045.
14. Labie D, Pagnier J, Lapourneroulie C, Rouabhi F, Duncla-Belkhodja O, Chardin P et al. Common haplotype dependency of high Gγ-globin gene expression and high HbF levels in β-thalassemia and sickle cell anemia patients. Proc Natl Acad Sci USA 1985; 82: 2111-2114.
15. Steinberg MH, Voskaridou E, Kutlar A, Loukopoulos D, Koshy M, Ballas SK et al. Concordant fetal hemoglobin response to hydroxyurea in siblings with sickle cell disease. Am J Hematol 2003; 72: 121-126.
16. Garner CP, Tatu T, Best S, Creary L, Thein SL. Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin. Am J Hum Genet 2002; 70: 793-799.
17. Thein SL, Sampietro M, Rohde K, Rochette J, Neatherall DJ, Lathrop GH et al. Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. Am J Hum Genet 1994; 54: 214-228.
18. Chang YC, Smith KD, Moore RD, Serjeant GR, Dover GJ. An analysis of fetal hemoglobin variation in sickle cell disease: The relative contributions of the X-linked factor, fl-globin haplotypes, β-globin gene number, gender, and age. Blood 1995; 85: 1111-1117.
19. s haplotypes. Br J Haematol 1997; 96: 806-814.
20. Craig JE, Rochette J, Sampietro M, Wilkie AD, Barnetson R, Hatton CS et al. Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin. Blood 1997; 90: 428-434.
21. Wyszynski DF, Baldwin CT, Cleves MA, Amirault Y, Nolan VG, Farrell JJ et al. Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia. Cell Mol Biol (Noisy -le-grand) 2004; 50: 23-33.
22. Blobel GA, Weiss MJ. Nuclear factors that regulate erythropoiesis, In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, (eds). Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management, 1st edn. Cambridge University Press: Cambridge, 2001, pp. 72-94.
23. Forrester WC, Takegawa S, Papayannopoulou T, Stamatoyannopoulos G, Groudine M. Evidence for a locus activation region: The formation of developmentally stable hypersensitive sites in globin-expressing hybrids. Nucleic Acids Res 1987; 15: 10159-10177.
24. Grosveld F, Antoniou M, Berry M, de Boer E, Dillon N, Ellis J et al. Regulation of human globin gene switching. Cold Spring Harb Symp Quant Biol 1993; 58: 7-13.
25. Tanimoto K, Engel JD. In vivo modulation of human beta-globin gene switching. Trends Cordiovasc Med 2000; 10: 15-19.
26. Tuan D, Solomon W, Li Q, London IM. The "beta-like-globin" gene domain in human erythroid cells. Proc Natl Acad Sci USA 1985; 82: 6384-6388.
27. Weiss MJ, Orkin SH. GATA transcription factors: Key regulators of hematopoiesis. Exp Hematol 1995; 23: 99-107.
28. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002; 70: 425-434.
29. Maier-Redelsperger M, de Montalembert M, Flahault A, Neonato MG, Ducrocq R, Masson MP et al. Fetal hemoglobin and F-cell responses to long-term hydroxyurea treatment in young sickle cell patients. The French Study Group on Sickle Cell Disease. Blood 1998; 91: 4472-4479.
30. Ware RE, Eggleston B, Redding-Lailinger R, Wang WC, Smith-Whitley K, Daeschner C et al. Predictors of fetal hemoglobin response in children with sickle cell anemia receiving hydroxyurea therapy. Blood 2002; 99: 10-14.
31. Bank A. Regulation of human fetal hemoglobin: New players, new complexities. Blood 2006; 107: 435-443.
32. Stamatoyannopoulos G. Control of globin gene expression during development and erythroid differentiation. Exp Hematol 2005; 33 259-271.
33. Garner C, Silver N, Best S, Menzel S, Martin C, Spector TD et al. Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin. Blood 2004; 104: 2184-2186.
34. Ikuta T, Ausenda S, Cappellini MD. Mechanism for fetal globin gene expression: Role of the soluble guanylate cyclase-cGMP-dependent protein kinase pathway. Proc Natl Acad Sci USA 2001; 98: 1847-1852.
35. Wang D, Donner DB, Warren RS. Homeostatic modulation of cell surface KDR and FLT1 expression and expression of the vascular enclothelial cell growth factor (VEGF) receptor mRNAs by VEGF. J Biol Chem 2000; 275: 15905-15911.
36. Reich DA, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001; 17: 502-510.
37. Charache S, Terrin ML, Moore RD, Dover GJ, McMahon RP, Barton FB et al. Design of the multicenter study of hydroxyurea in sickle cell anemia. Investigators of the multicenter study of hydroxyurea. Control Clin Trials 1995; 16: 432-446.
38. Dozy AM, Kan YW, Embury SH, Mentzer WC, Wang WC, Lubin B et al. Alpha-globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature 1979; 280: 605-607.
39. Steinberg MH, Rosenstock W, Coleman MB, Adams JG, Platica O, Cedeno M et al. Effects of thalassemia and microcytosis on the hematologic and vasoocclusive severity of sickle cell anemia. Blood 1984; 63 1353-1360.
40. Game L, Close J, Stephens P, Mitchell J, Best S, Rochette J et al. An integrated map of human 6q22.3-q24 including a 3-Mb high-resolution BAC/PAC contig encompassing a QTL for fetal hemoglobin. Genomics 2000; 64: 64-76.
41. The International HapMap Consortium. The International HapMap Project. Nature 2003; 426: 789-796.
42. Barrett JC, Fry B, Mailer 1, Daly MJ. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21 263-265.
43. Xu J, Turner A, Little J, Bleecker ER, Meyers DA. Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: Hint for genotyping error? Hum Genet 2002; 111: 573-574.
44. Nielsen DM, Ehm MG, Weir BS. Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am J Hum Genet 1998; 63: 1531-1540.
45. Deng HW, Chen WM, Recker RR. QTL fine mapping by measuring and testing for Hardy-Weinberg and linkage disequilibrium at a series of linked marker loci in extreme samples of populations. Am J Hum Genet 2000; 66: 1027-1045.
46. Goring HH, Terwilliger JD. Linkage analysis in the presence of errors IV: Joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified. Am J Hum Genet 2000; 66: 1310-1327.
47. Terwilliger JD. Inflated false-positive rates in Hardy-Weinberg and linkage-equilibrium tests are due to sampling on the basis of rare familial phenotypes in finite populations. Am J Hum Genet 2000; 67: 258-259.
48. Weinberg CR, Morris RW. Testing for Hardy-Weinberg disequilibrium using a genome sing le-nucleotide polymorphism scan based on cases only. Am J Epidermiol 2003; 158: 401-403.
49. Breiman L. Random forests. Machine Learning 2001; 45: 5-32.