Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy

Pharmacogenomics

Volumn 14, Issue 5, 2013, Pages 469-483

  Tafrali, Christina ^a   Paizi, Arsinoi ^a   Borg, Joseph ^b,c   Radmilovic, Milena ^d   Bartsakoulia, Marina ^a   Giannopoulou, Emily ^a   Giannakopoulou, Olga ^a   Stojiljkovic Petrovic, Maja ^d   Zukic, Branka ^d   Poulas, Konstantinos ^a   Stavrou, Eleana F ^a   Lambropoulou, Polyxeni ^a   Kourakli, Alexandra ^a   Felice, Alexander E ^a   Papachatzopoulou, Adamantia ^b   Philipsen, Sjaak ^a   Pavlovic, Sonja ^c   Georgitsi, Marianthi ^d   Patrinos, George P ^a  

^a UNIVERSITY OF PATRAS   (Greece)

^b UNIVERSITY OF MALTA   (Malta)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF BELGRADE   (Serbia)

Author keywords

thalassemia; haplotype; hydroxyurea; MAP3K5; PDE7B; pharmacogenomics; sickle cell disease; transcription profiling

Indexed keywords

HEMOGLOBIN F; HYDROXYUREA; KRUPPEL LIKE FACTOR; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHODIESTERASE VII;

ADULT; ARTICLE; BETA THALASSEMIA; CHROMOSOME 6Q; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; DRUG EFFICACY; ERYTHROID PRECURSOR CELL; GENE; GENE EXPRESSION; GENE LOCATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOINSUFFICIENCY; HEMOGLOBIN BLOOD LEVEL; HEMOGLOBINOPATHY; HETEROZYGOTE; HUMAN; KLF1 GENE; MAJOR CLINICAL STUDY; MAP3K5 GENE; PDE7B GENE; SHORT TANDEM REPEAT; SICKLE CELL ANEMIA; THALASSEMIA INTERMEDIA; THALASSEMIA MAJOR; TREATMENT RESPONSE;

BETA-THALASSEMIA; BIOMARKERS, PHARMACOLOGICAL; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; HUMANS; HYDROXYUREA; MAP KINASE KINASE KINASE 5; MICROSATELLITE REPEATS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RNA, MESSENGER;

EID: 84875936756     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.13.31     Document Type: Article

References (59)

1. Patrinos GP, Grosveld FG. Pharmacogenomics and therapeutics of hemoglobinopathies. Hemoglobin 32(1-2), 229-236 (2008 (Pubitemid 351264530)
2. Rochette J, Craig JE, Thein SL. Fetal hemoglobin levels in adults. Blood Rev. 8(4), 213-224 (1994 (Pubitemid 124019908)
3. Boyer SH, Dover GJ, Serjeant GR et al. Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the beta-globin gene cluster. Blood 64(5), 1053-1058 (1984 (Pubitemid 15212047)
4. Garner C, Tatu T, Reittie JE et al. Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood 95(1), 342-346 (2000 (Pubitemid 30017262)
5. Gianni AM, Bregni M, Cappellini MD et al. A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster. EMBO J. 2(6), 921-925 (1983
6. Gilman JG, Huisman TH. DNA sequence variation associated with elevated fetal G gamma globin production. Blood 66(4), 783-787 (1985 (Pubitemid 15242459)
7. Gilman JG, Johnson ME, Mishima N. Four base-pair DNA deletion in human A gamma globin-gene promoter associated with low A gamma expression in adults. Br. J. Haematol. 68(4), 455-458 (1988
8. Oner C, Dimovski AJ, Altay C et al. Sequence variations in the 5́ hypersensitive site-2 of the locus control region of beta S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes. Blood 79(3), 813-819 (1992
9. Merghoub T, Perichon B, Maier-Redelsperger M et al. Dissection of the association status of two polymorphisms in the beta-globin gene cluster with variations in F-cell number in non-anemic individuals. Am. J. Hematol. 56(4), 239-243 (1997 (Pubitemid 127471675)
10. Dover GJ, Smith KD, Chang YC et al. Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood 80(3), 816-824 (1992
11. Craig JE, Rochette J, Fisher CA et al. Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Nat. Genet. 12(1), 58-64 (1996 (Pubitemid 26011320)
12. Game L, Close J, Stephens P 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 64(3), 264-276 (2000 (Pubitemid 30212627)
13. 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 (Pubitemid 350187450)
14. Bailey L, Kuroyanagi Y, Franco-Penteado CF et al. Expression of the gamma-globin gene is sustained by the cAMP-dependent pathway in beta-thalassaemia. Br. J. Haematol. 138(3), 382-395 (2007 (Pubitemid 47035398)
15. Papachatzopoulou A, Kourakli A, Makropoulou P et al. Genotypic heterogeneity and correlation to intergenic haplotype within high HbF beta-thalassemia intermedia. Eur. J. Haematol. 76(4), 322-330 (2006 (Pubitemid 43362941)
16. Papachatzopoulou A, Kaimakis P, Pourfarzad F et al. Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3́HS1. Am. J. Hematol. 82(11), 1005-1009 (2007 (Pubitemid 350017431)
17. Giannopoulou E, Bartsakoulia M, Tafrali C et al. A single nucleotide polymorphism in the HBBP1 gene in the human b-globin locus is associated with a mild b-thalassemia disease phenotype. Hemoglobin 36(5), 433-445 (2012
18. 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
19. Borg J, Phylactides M, Bartsakoulia M et al. KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in b-hemoglobinopathy patients. Pharmacogenomics 13(13), 1487-1500 (2012
20. de Hoon MJ, Imoto S, Nolan J, Miyano S. Open source clustering software. Bioinformatics 20(9), 1453-1454 (2004 (Pubitemid 38931415)
21. Saldanha AJ. Java Treeview - extensible visualization of microarray data. Bioinformatics 20(17), 3246-3248 (2004 (Pubitemid 39619217)
22. Wyszynski DF, Baldwin CT, Cleves MA 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) 50(1), 23-33 (2004
23. Creary LE, Ulug P, Menzel S et al. Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients. PLoS ONE 4(1), e4218 (2009
24. Xu Z, Taylor JA. SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. Nucleic Acids Res. 37(Web Server issue), W600-W605 (2009
25. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2), 263-265 (2005 (Pubitemid 40202029)
26. 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
27. Ye S, Dhillon S, Ke X, Collins AR, Day IN. An effprocedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res. 29(17), e88 (2001
28. Zukic B, Radmilovic M, Stojiljkovic M et al. Functional analysis of the role of the TPMT gene promoter VNTR polymorphism in TPMT gene transcription. Pharmacogenomics 11(4), 547-557 (2010
29. Kotur N, Stankovic B, Kassela K et al. 6-mercaptopurine influences TPMT gene transcription in a TPMT gene promoter variable number of tandem repeats-dependent manner. Pharmacogenomics 13(3), 283-295 (2012
30. Watson J. The significance of the paucity of sickle cells in newborn Negro infants. Am. J. Med. Sci. 215(4), 419-423 (1948
31. Thein SL, Menzel S, Peng X et al. Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc. Natl Acad. Sci. USA 104(27), 11346-11351 (2007 (Pubitemid 47175143)
32. Lettre G, Sankaran VG, Bezerra MA et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc. Natl Acad. Sci. USA 105(33), 11869-11874 (2008
33. Wahlberg K, Jiang J, Rooks H et al. The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells. Blood 114(6), 1254-1262 (2009
34. Farrell JJ, Sherva RM, Chen ZY et al. A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood 117(18), 4935-4945 (2011
35. Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat. Genet. 42(12), 1049-1051 (2010
36. Georgitsi M, Zukic B, Pavlovic S, Patrinos GP. Transcriptional regulation and pharmacogenomics. Pharmacogenomics 12(5), 655-673 (2011
37. Beutler E, Gelbart T, Demina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc. Natl Acad. Sci. USA 95(14), 8170-8174 (1998 (Pubitemid 28326085)
38. Hoskins JM, Goldberg RM, Qu P, Ibrahim JG, McLeod HL. UGT1A1*28 genotype and irinotecan-induced neutropenia: dose matters. J. Natl Cancer Inst. 99(17), 1290-1295 (2007 (Pubitemid 47394168)
39. Horie N, Aiba H, Oguro K, Hojo H, Takeishi K. Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5́-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct. Funct. 20(3), 191-197 (1995
40. Pullarkat ST, Stoehlmacher J, Ghaderi V et al. Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy. Pharmacogenomics J. 1(1), 65-70 (2001 (Pubitemid 33757985)
41. Krajinovic M, Costea I, Chiasson S. Polymorphism of the thymidylate synthase gene and outcome of acute lymphoblastic leukaemia. Lancet 359(9311), 1033-1034 (2002 (Pubitemid 34286543)
42. Weatherall DJ. Towards molecular medicine; reminiscences of the haemoglobin field, 1960-2000. Br. J. Haematol. 115(4), 729-738 (2001 (Pubitemid 34042887)
43. Platt OS. Hydroxyurea for the treatment of sickle cell anemia. N. Engl. J. Med. 358(13), 1362-1369 (2008
44. Matsukawa J, Matsuzawa A, Takeda K, Ichijo H. The ASK1-MAP kinase cascades in mammalian stress response. J. Biochem. 136(3), 261-265 (2004 (Pubitemid 39545783)
45. Tobiume K, Matsuzawa A, Takahashi T et al. ASK1 is required for sustained activations of JNK/p38 MAP kinases and apoptosis. EMBO Rep. 2(3), 222-228 (2001 (Pubitemid 32273301)
46. Hattori K, Naguro I, Runchel C, Ichijo H. The roles of ASK family proteins in stress responses and diseases. Cell Commun. Signal. 7, 9 (2009
47. Witt O, Monkemeyer S, Ronndahl G et al. Induction of fetal hemoglobin expression by the histone deacetylase inhibitor apicidin. Blood 101(5), 2001-2007 (2003 (Pubitemid 36237607)
48. Conti M, Jin SL. The molecular biology of cyclic nucleotide phosphodiesterases. Prog. Nucleic Acid Res. Mol. Biol. 63, 1-38 (1999
49. Inoue A, Kuroyanagi Y, Terui K, Moi P, Ikuta T. Negative regulation of gamma-globin gene expression by cyclic AMP-dependent pathway in erythroid cells. Exp. Hematol. 32(3), 244-253 (2004 (Pubitemid 38328529)
50. Kuroyanagi Y, Kaneko Y, Muta K et al. cAMP differentially regulates gamma-globin gene expression in erythroleukemic cells and primary erythroblasts through c-Myb expression. Biochem. Biophys. Res. Commun. 344(3), 1038-1047 (2006
51. Keefer JR, Schneidereith TA, Mays A, Purvis SH, Dover GJ, Smith KD. Role of cyclic nucleotides in fetal hemoglobin induction in cultured CD34+ cells. Exp. Hematol. 34(9), 1151-1161 (2006
52. 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
53. Flanagan JM, Steward S, Howard TA et al. Hydroxycarbamide alters erythroid gene expression in children with sickle cell anaemia. Br. J. Haematol. 157(2), 240-248 (2012
54. The HapMap Project. http://hapmap.ncbi.nlm.nih.gov/index.html. en
55. The National Institute of Environmental Health Sciences. http://snpinfo.niehs.nih.gov/snpinfo/snptag. htm
56. HaploView 4.2 - Broad Institute. www.broadinstitute.org/scientific- community/science/programs/medical-and-population-genetics/haploview/haploview
57. PRIMER1: primer design for tetra-primer ARMS-PCR. http://primer1.soton. ac.uk/primer1.html
58. The 1000 Genomes Project. www.1000genomes.org
59. The Ensembl. www.ensembl.org