Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy

Pharmacogenomics

Volumn 17, Issue 16, 2016, Pages 1785-1793

  Gravia, Aikaterini ^a   Chondrou, Vasiliki ^a   Kolliopoulou, Alexandra ^a   Kourakli, Alexandra ^b   John, Anne ^c   Symeonidis, Argyris ^b   Ali, Bassam R ^c   Sgourou, Argyro ^d   Papachatzopoulou, Adamantia ^b   Katsila, Theodora ^a   Patrinos, George P ^a,c  

^a UNIVERSITY OF PATRAS   (Greece)

^b UNIVERSITY OF PATRAS   (Greece)

^c UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^d HELLENIC OPEN UNIVERSITY   (Greece)

Author keywords

hydroxyurea; pharmacogenomics; SIN3A; treatment response; thalassemia

Indexed keywords

HEMOGLOBIN F; HYDROXYUREA;

ADULT; ARTICLE; BETA THALASSEMIA; CONTROLLED STUDY; CORRELATIONAL STUDY; DISEASE SEVERITY; DRUG EFFICACY; GENE; GENE EXPRESSION; GENE INTERACTION; HETEROZYGOSITY; HUMAN; KLF1 GENE; KLF10 GENE; MAJOR CLINICAL STUDY; SIN3A GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84995655317     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs-2016-0076     Document Type: Article

References (39)

1. Cao A, Galanello R. Beta-thalassemia. Genet. Med. 12(2), 61-76 (2010).
2. Nienhuis AW, Nathan DG. Pathophysiology and clinical manifestations of the β-thalassemias. Cold Spring Harb. Perspect. Med. 2(12), a011726 (2012).
3. Wilber A, Nienhuis AW, Persons DA. Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities. Blood 117(15), 3945-3953 (2011).
4. Thein SL, Menzel S, Lathrop M, Garner C. Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum. Mol. Genet. 18(R2), R216-R223 (2009).
5. Thein SL. Genetic modifiers of the beta-haemoglobinopathies. Br. J. Haematol. 141(3), 357-366 (2008).
6. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat. Rev. Genet. 2(4), 245-255 (2001).
7. Özdemir V, Dove ES, Gürsoy UK et al. Personalized medicine beyond genomics: alternative futures in big data-proteomics, environtome and the social proteome. J. Neural Transm. (Vienna) (2015) (Epub ahead of print).
8. Testa U. Fetal hemoglobin inducers for treatment of hemoglobinopathies. Ann. Hematol. 88(6), 505-528 (2009).
9. Perrine SP, Pace BS, Faller DV. Targeted fetal hemoglobin induction for treatment of beta hemoglobinopathies. Hematol. Oncol. Clin. North Am. 28(2), 233-248 (2014).
10. Cokic VP, Smith RD, Beleslin-Cokic BB et al. Hydroxyurea induces fetal hemoglobin by the nitric oxide-dependent activation of soluble guanylyl cyclase. J. Clin. Invest. 111(2), 231-239 (2003).
11. 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).
12. Italia KY, Jijina FF, Merchant R et al. Response to hydroxyurea in beta thalassemia major and intermedia: experience in western India. Clin. Chim. Acta 407, 10-15 (2009).
13. Chalikiopoulou C, Tavianatou AG, Sgourou A et al. Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients. Pharmacogenomics 17(4), 393-403 (2016).
14. Tafrali C, Paizi A, Borg J et al. Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy. Pharmacogenomics 14(5), 469-483 (2013).
15. 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 β-hemoglobinopathy patients. Pharmacogenomics 13(13), 1487-1500 (2012).
16. Siatecka M, Bieker JJ. The multifunctional role of EKLF/ KLF1 during erythropoiesis. Blood 118(8), 2044-2054 (2011).
17. Zhang JS, Moncrieffe MC, Kaczynski J et al. A conserved α-helical motif mediates the interaction of Sp1-like transcriptional repressors with the corepressor mSin3A. Mol. Cell. Biol. 21(15), 5041-5049 (2001).
18. Giannopoulou E, Bartsakoulia M, Tafrali C et al. A single nucleotide polymorphism in the HBBP1 gene in the human γ-globin locus is associated with a mild β-thalassemia disease phenotype. Hemoglobin 36(5), 433-445 (2012).
19. Papachatzopoulou A, Kaimakis P, Pourfarzad F et al. Increased γ-globin gene expression in β-thalassemia intermedia patients correlates with a mutation in 3?HS1. Am. J. Hematol. 82(11), 1005-1009 (2007).
20. Papachatzopoulou A, Kourakli A, Makropoulou P et al. Genotypic heterogeneity and correlation to intergenic haplotype within high HbF β-thalassemia intermedia. Eur. J. Haematol. 76(4), 322-330 (2006).
21. Musallam KM, Taher AT, Rachmilewitz EA. β-thalassemia intermedia: a clinical perspective. Cold Spring Harb. Perspect. Med. 2(7), a013482 (2012).
22. Patrinos GP, Grosveld FG. Pharmacogenomics and therapeutics of hemoglobinopathies. Hemoglobin 32(1-2), 229-236 (2008).
23. AltAnalyze. www. altanalyze. org
24. 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).
25. National Center for Biotechnology Information. http://hapmap. ncbi. nlm. nih. gov/index. html. en
26. Xu Z, Taylor JA. SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. Nucleic Acids Res. 37, W600-W605 (2009).
27. SNPinfo. http://snpinfo. niehs. nih. gov/snpinfo/snptag. htm
28. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2), 263-265 (2005).
29. STRING. http://string-db. org/
30. Szklarczyk D, Franceschini A, Wyder S et al. STRING v10: protein-protein interaction networks, integrated over the tree of life. Nucleic Acids Res. 43, D447-D452 (2015).
31. Ikuta T, Kuroyanagi Y, Odo N, Liu S. A common signaling pathway is activated in erythroid cells expressing high levels of fetal hemoglobin: a potential role for cAMP-elevating agents in γ-globin disorders. J. Blood Med. 4, 149-159 (2013).
32. Ramakrishnan V, Pace BS. Regulation of γ-globin gene expression involves signaling through the p38 MAPK/ CREB1 pathway. Blood Cells Mol. Dis. 47(1), 12-22 (2011).
33. Zhu J, Chin K, Aerbajinai W et al. Hydroxyurea-inducible SAR1 gene acts through the Gi?/JNK/Jun pathway to regulate γ-globin expression. Blood 124(7), 1146-1156 (2014).
34. Banan M. Hydroxyurea treatment in β-thalassemia patients: to respond or not to respond? Ann. Hematol. 92(3), 289-299 (2013).
35. Green NS, Ender KL, Pashankar F et al. Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea. PLoS ONE 8(2), e55709 (2013).
36. Gravia A, Chondrou V, Sgourou A et al. Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients. Pharmacogenomics 15(10), 1355-1364 (2014).
37. Squassina A, Manchia M, Manolopoulos VG et al. Realities and expectations of pharmacogenomics and personalized medicine: impact of translating genetic knowledge into clinical practice. Pharmacogenomics 11(8), 1149-1167 (2010).
38. Ginder GD. Epigenetic regulation of fetal globin gene expression in adult erythroid cells. Transl. Res. 165(1), 115-125 (2015).
39. Kim MS, Pinto SM, Getnet D et al. A draft map of the human proteome. Nature 509(7502), 575-581 (2014).