KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in -hemoglobinopathy patients

Pharmacogenomics

Volumn 13, Issue 13, 2012, Pages 1487-1500

  Borg, Joseph ^a,b,c   Phylactides, Marios ^d   Bartsakoulia, Marina ^a   Tafrali, Christina ^a   Lederer, Carsten ^a,d   Felice, Alexander E ^c   Papachatzopoulou, Adamantia ^e   Kourakli, Alexandra ^f   Stavrou, Eleana F ^f   Christou, Soteroula ^g   Hou, Jun ^b   Karkabouna, Sophia ^b   Lappa Manakou, Christina ^b   Özgur, Zeliha ^b   Van Ijcken, Wilfred ^b   Von Lindern, Marieke ^b   Grosveld, Frank G ^b   Georgitsi, Marianthi ^a   Kleanthous, Marina ^d   Philipsen, Sjaak ^b   Patrinos, George P ^a   more..

^a UNIVERSITY OF PATRAS   (Greece)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF MALTA   (Malta)

^d CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^e UNIVERSITY OF PATRAS   (Greece)

^f UNIVERSITY OF PATRAS   (Greece)

^g Archbishop Makarios III Hospital   (Cyprus)

Author keywords

hydroxyurea; KLF10; pharmacogenomics; sickle cell disease; thalassemia; transcription profiling

Indexed keywords

HEMOGLOBIN; HYDROXYUREA; TRANSCRIPTOME;

3' UNTRANSLATED REGION; ADULT; ARTICLE; BETA THALASSEMIA; CELL DIFFERENTIATION; CELL PROLIFERATION; CLINICAL ARTICLE; CONTROLLED STUDY; DENSITY GRADIENT CENTRIFUGATION; FEMALE; GENE; GENE AMPLIFICATION; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IONIC STRENGTH; KLF10 GENE; MALE; MONONUCLEAR CELL; PHARMACOGENOMICS; PROTEIN SYNTHESIS; PURIFICATION; RNA HYBRIDIZATION; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM;

3' UNTRANSLATED REGIONS; ADULT; ANEMIA, SICKLE CELL; ANTISICKLING AGENTS; BETA-THALASSEMIA; EARLY GROWTH RESPONSE TRANSCRIPTION FACTORS; ERYTHROID PRECURSOR CELLS; FEMALE; FETAL HEMOGLOBIN; GENE EXPRESSION; GENETIC MARKERS; HEMOGLOBINOPATHIES; HETEROZYGOTE; HUMANS; HYDROXYUREA; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; TRANSCRIPTOME;

EID: 84866609255     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.12.125     Document Type: Article

References (42)

1. Weatherall DJ. Towards molecular medicine; reminiscences of the haemoglobin field, 1960-2000. Br. J. Haematol. 115(4), 729-738 (2001)
2. Patrinos G, Antonarakis S. Human Hemoglobin (4th Edition). Springer, Heidelberg, Germany (2010)
3. Perrine SP, Miller BA, Greene MF, et al. Butyric acid analogues augment ? globin gene expression in neonatal erythroid progenitors. Biochem. Biophys. Res. Commun. 148(2), 694-700 (1987)
4. Perrine SP, Wargin WA, Boosalis MS, et al. Evaluation of safety and pharmacokinetics of sodium 2,2 dimethylbutyrate, a novel short chain fatty acid derivative, in a Phase 1, double-blind, placebo-controlled, single-dose, and repeat-dose studies in healthy volunteers. J. Clin. Pharmacol. 51(8), 1186-1194 (2011)
5. Constantoulakis P, Knitter G, Stamatoyannopoulos G. On the induction of fetal hemoglobin by butyrates: in vivo and in vitro studies with sodium butyrate and comparison of combination treatments with 5?azaC and AraC. Blood 74(6), 1963-1971 (1989)
6. DeSimone J, Heller P, Hall L, Zwiers D. 5?azacytidine stimulates fetal hemoglobin synthesis in anemic baboons. Proc. Natl Acad. Sci. USA 79(14), 4428-4431 (1982)
7. Dover GJ, Charache SH, Boyer SH, Talbot CC, Smith KD. 5?azacytidine increases fetal hemoglobin production in a patient with sickle cell disease. Prog. Clin. Biol. Res. 134, 475-488 (1983)
8. Mabaera R, Greene MR, Richardson CA, Conine SJ, Kozul CD, Lowrey CH. Neither DNA hypomethylation nor changes in the kinetics of erythroid differentiation explain 5-azacytidine's ability to induce human fetal hemoglobin. Blood 111(1), 411-420 (2008)
9. Ley TJ, Anagnou NP, Noguchi CT, et al. DNA methylation and globin gene expression in patients treated with 5-azacytidine. Prog. Clin. Biol. Res. 134, 457-474 (1983)
10. Veith R, Galanello R, Papayannopoulou T, Stamatoyannopoulos G. Stimulation of F-cell production in patients with sickle-cell anemia treated with cytarabine or hydroxyurea. N. Engl. J. Med. 313(25), 1571-1575 (1985)
11. Moi P, Kan YW. Synergistic enhancement of globin gene expression by activator protein-1-like proteins. Proc. Natl Acad. Sci. USA 87(22), 9000-9004 (1990)
12. Yang YM, Pace B, Kitchens D, Ballas SK, Shah A, Baliga BS. BFU-E colony growth in response to hydroxyurea: correlation between in vitro and in vivo fetal hemoglobin induction. Am. J. Hematol. 56(4), 252-258 (1997)
13. 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 89(3), 1078-1088 (1997)
14. Patrinos GP, Grosveld FG. Pharmacogenomics and therapeutics of hemoglobinopathies. Hemoglobin 32(1-2), 229-236 (2008)
15. Wilber A, Nienhuis AW, Persons DA. Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities. Blood 117(15), 3945-3953 (2011)
16. Alebouyeh M, Moussavi F, Haddad-Deylami H, Vossough P. Hydroxyurea in the treatment of major thalassemia and importance of genetic screening. Ann. Hematol. 83(7), 430-433 (2004)
17. Dixit A, Chatterjee TC, Mishra P, et al. Hydroxyurea in thalassemia intermedia-a promising therapy. Ann. Hematol. 84(7), 441-446 (2005)
18. Yavarian M, Karimi M, Bakker E, Harteveld CL, Giordano PC. Response to hydroxyurea treatment in Iranian transfusion-dependent thalassemia patients. Haematologica 89(10), 1172-1178 (2004)
19. Ma Q, Wyszynski DF, Farrell JJ, et al. Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. Pharmacogenomics J. 7(6), 386-394 (2007)
20. Borg J, Papadopoulos P, Georgitsi M, et al. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat. Genet. 42(9), 801-805 (2010)
21. Voskaridou E, Christoulas D, Bilalis A, et al. The effect of prolonged administration of hydroxyurea on morbidity and mortality in adult patients with sickle cell syndromes: results of a 17-year, single-center trial (LaSHS). Blood 115(12), 2354-2363 (2010)
22. Giannopoulou E, Bartsakoulia M, Tafrali C, et al. A single nucleotide polymorphism in the HBBP1 gene in the human ?-globin locus is associated with a mild thalassemia disease phenotype. Hemoglobin doi:10.3109/03630269.2012.717515
23. Papachatzopoulou A, Kourakli A, Makropoulou P, et al. Genotypic heterogeneity and correlation to intergenic haplotype within high HbF thalassemia intermedia. Eur. J. Haematol. 76(4), 322-330 (2006)
24. Papachatzopoulou A, Kaimakis P, Pourfarzad F, et al. Increased ?-globin gene expression in thalassemia intermedia patients correlates with a mutation in 3HS1. Am. J. Hematol. 82(11), 1005-1009 (2007)
25. Leberbauer C, Boulmé F, Unfried G, Huber J, Beug H, Müllner EW. Different steroids co-regulate long -term expansion versus terminal differentiation in primary human erythroid progenitors. Blood 105(1), 85-94 (2005)
26. de Hoon MJ, Imoto S, Nolan J, Miyano S. Open source clustering software. Bioinformatics 20(9), 1453-1454 (2004)
27. Saldanha AJ. Java Treeview-extensible visualization of microarray data. Bioinformatics 20(17), 3246-3248 (2004)
28. Papachatzopoulou A, Kourakli A, Stavrou EF, et al. Region-specific genetic heterogeneity of HBB mutation distribution in south-western Greece. Hemoglobin 34(4), 333-342 (2010)
29. Thein SL. Genetic modifiers of sickle cell disease. Hemoglobin 35(5-6), 589-606 (2011)
30. Dingli D, Tefferi A. Hydroxyurea: the drug of choice for polycythemia vera and essential thrombocythemia. Curr. Hematol. Malig. Rep. 1(2), 69-74 (2006)
31. Platt OS. Hydroxyurea for the treatment of sickle cell anemia. N. Engl. J. Med. 358(13), 1362-1369 (2008)
32. Ware RE, Despotovic JM, Mortier NA, et al. Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia. Blood 118(18), 4985-4991 (2011)
33. Schechter AN. Hemoglobin research and the origins of molecular medicine. Blood 112(10), 3927-3938 (2008)
34. Gallienne AE, Dréau HM, Schuh A, Old JM, Henderson S. Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults. Haematologica 97(3), 340-343 (2012)
35. Hu JH, Navas P, Cao H, Stamatoyannopoulos G, Song CZ. Systematic RNAi studies on the role of Sp/KLF factors in globin gene expression and erythroid differentiation. J. Mol. Biol. 366(4), 1064-1073 (2007)
36. Siatecka M, Bieker JJ. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood 118(8), 2044-2054 (2011)
37. Zhang JS, Moncrieffe MC, Kaczynski J, Ellenrieder V, Prendergast FG, Urrutia R. A conserved ?-helical motif mediates the interaction of Sp1-like transcriptional repressors with the corepressor mSin3A. Mol. Cell. Biol. 21(15), 5041-5049 (2001)
38. Alhashem YN, Vinjamur DS, Basu M, Klingmüller U, Gaensler KM, Lloyd JA. Transcription factors KLF1 and KLF2 positively regulate embryonic and fetal ?-globin genes through direct promoter binding. J. Biol. Chem. 286(28), 24819-24827 (2011)
39. Kalra IS, Alam mM, Choudhary PK, Pace BS. Krüppel-like factor 4 activates HBG gene expression in primary erythroid cells. Br. J. Haematol. 154(2), 248-259 (2011)
40. Uda M, Galanello R, Sanna S, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of thalassemia. Proc. Natl Acad. Sci. USA 105(5), 1620-1625 (2008)
41. Close J, Game L, Clark B, Bergounioux J, Gerovassili A, Thein SL. Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults. BMC Genomics 5(1), 33 (2004)
42. Squassina A, Manchia M, Borg J, et al. Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder. Pharmacogenomics 12(11), 1559-1569 (2011).