Pharmacogenomics of sickle cell disease: Steps toward personalized medicine

Pharmacogenomics and Personalized Medicine

Volumn 10, Issue , 2017, Pages 261-265

  Husain, Marium ^a   Hartman, Amber D ^a   Desai, Payal ^a  

^a THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

Author keywords

Gene Therapy; HbF inducers; Hydroxyurea; Opioids; Pharmacogenomics; Sickle cell disease

Indexed keywords

EID: 85044237418     PISSN: None     EISSN: 11787066     Source Type: Journal    
DOI: 10.2147/PGPM.S123427     Document Type: Review

References (47)

1. Wang WC, Ware RE, Miller ST, et al. Hydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG). Lancet. 2011;377(9778):1663–1672.
2. Patrinos GP, Innocenti F. Pharmacogenomics: paving the path to personalized medicine. Pharmacogenomics. 2010;11(2):141–146.
3. Patrinos GP, Grosveld FG. Pharmacogenomics and therapeutics of hemoglobinopathies. Hemoglobin. 2008;32(1–2):229–236.
4. Steinberg MH, Voskaridou E, Kutlar A, et al. Concordant fetal hemoglobin response to hydroxyurea in siblings with sickle cell disease. Am J Hematol. 2003;72(2):121–126.
5. 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. 2013;14(5):469–483.
6. 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. 2016;17(4):393–403.
7. 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. 2012;97(3):340–343.
8. 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. 2012;13(13):1487–1500.
9. 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(3):1078–1088.
10. Bakanay SM, Dainer E, Clair B, et al. Mortality in sickle cell patients on hydroxyurea therapy. Blood. 2005;105(2):545–547.
11. Kumkhaek C, Taylor JG, Zhu J, Hoppe C, Kato GJ, Rodgers GP. Fetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemia. Br J Haematol. 2008;141(2):254–259.
12. Ware RE, Despotovic JM, Mortier NA, et al. Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia. Blood. 2011;118(18):4985–4991.
13. Gravia A, Chondrou V, Sgourou A, et al. Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients. Pharmacogenomics. 2014;15(10):1355–1364.
14. Alebouyeh M, Moussavi F, Haddad-Deylami H, Vossough P. Hydroxyurea in the treatment of major beta-thalassemia and importance of genetic screening. Ann Hematol. 2004;83(7):430–433.
15. Yavarian M, Karimi M, Bakker E, Harteveld CL, Giordano PC. Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients. Haematologica. 2004;89(10):1172–1178.
16. Kohne E. Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Dtsch Arztebl Int. 2011;108(31–32):532–540.
17. Joly P, Gagnieu MC, Bardel C, Francina A, Pondarre C, Martin C. Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patients. Am J Hematol. 2012;87(5):534–536.
18. Jhun EH, Yao Y, He Y, et al. Prevalence of pain-related single nucleotide polymorphisms in patients of African origin with sickle cell disease. Pharmacogenomics. 2015;16(16):1795–1806.
19. Nielsen LM, Olesen AE, Sato H, Christrup LL, Drewes AM. Association between gene polymorphisms and pain sensitivity assessed in a multi-modal multi-tissue human experimental model - An Explorative Study. Basic Clin Pharmacol Toxicol. 2016;119(4):360–366.
20. Reyes-Gibby CC, Shete S, Rakvåg T, et al. Exploring joint effects of genes and the clinical efficacy of morphine for cancer pain: OPRM1 and COMT gene. Pain. 2007;130(1–2):25–30.
21. Yee MM, Josephson C, Hill CE, et al. Cytochrome P450 2D6 polymorphisms and predicted opioid metabolism in African American children with sickle cell disease. J Pediatr Hematol Oncol. 2013;35(7): e301–e305.
22. Green NS, Barral S. Genetic modifiers of HbF and response to hydroxyurea in sickle cell disease. Pediatr Blood Cancer. 2011;56(2):177–181.
23. 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. 2010;42(12):1049–1051.
24. Bauer DE, Kamran SC, Lessard S, et al. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science. 2013;342(6155):253–257.
25. Deng W, Rupon JW, Krivega I, et al. Reactivation of developmentally silenced globin genes by forced chromatin looping. Cell. 2014;158(4): 849–860.
26. Ma Q, Wyszynski DF, Farrell JJ, et al. Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. Pharmacogenomics J. 2007;7(6):386–394.
27. Gravia A, Chondrou V, Kolliopoulou A, et al. Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy. Pharmacogenomics. Epub 2016 Oct 21.
28. Siatecka M, Bieker JJ. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood. 2011;118(8):2044–2054.
29. Sheehan VA, Crosby JR, Sabo A, et al. Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. PLoS One. 2014;9(10):e110740.
30. Krivega I, Byrnes C, de Vasconcellos JF, et al. Inhibition of G9a methyltransferase stimulates fetal hemoglobin production by facilitating LCR/γ-globin looping. Blood. 2015;126(5):665–672.
31. de Vasconcellos JF, Fasano RM, Lee YT, et al. LIN28A expression reduces sickling of cultured human erythrocytes. PLoS One. 2014;9(9):e106924.
32. Quimby KR, Hambleton IR, Landis RC. Intravenous infusion of haptoglobin for the prevention of adverse clinical outcome in Sickle Cell Disease. Med Hypotheses. 2015;85(4):424–432.
33. Wood KC, Hsu LL, Gladwin MT. Sickle cell disease vasculopathy: a state of nitric oxide resistance. Free Radic Biol Med. 2008;44(8):1506–1528.
34. Tsukada T, Yokoyama K, Arai T, et al. Evidence of association of the ecNOS gene polymorphism with plasma NO metabolite levels in humans. Biochem Biophys Res Commun. 1998;245(1):190–193.
35. Yousry SM, Ellithy HN, Shahin GH. Endothelial nitric oxide synthase gene polymorphisms and the risk of vasculopathy in sickle cell disease. Hematology. 2016;21(6):359–367.
36. Nishank SS, Singh MP, Yadav R, Gupta RB, Gadge VS, Gwal A. Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India. J Hum Genet. 2013;58(12):775–779.
37. Elshamaa MF, Sabry S, Badr A, et al. Endothelial nitric oxide synthase gene intron4 VNTR polymorphism in patients with chronic kidney disease. Blood Coagul Fibrinolysis. 2011;22(6):487–492.
38. Sharan K, Surrey S, Ballas S, et al. Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease. Br J Haematol. 2004;124(2):240–243.
39. Tantawy AA, Adly AA, Ismail EA, Aly SH. Endothelial nitric oxide synthase gene intron 4 VNTR polymorphism in sickle cell disease: relation to vasculopathy and disease severity. Pediatr Blood Cancer. 2015;62(3): 389–394.
40. Vargas AE, da Silva MA, Silla L, Chies JA. Polymorphisms of chemokine receptors and eNOS in Brazilian patients with sickle cell disease. Tissue Antigens. 2005;66(6):683–690.
41. Ataga KI, Orringer EP. Renal abnormalities in sickle cell disease. Am J Hematol. 2000;63(4):205–211.
42. Wang Y, Kikuchi S, Suzuki H, Nagase S, Koyama A. Endothelial nitric oxide synthase gene polymorphism in intron 4 affects the progression of renal failure in non-diabetic renal diseases. Nephrol Dial Transplant. 1999;14(12):2898–2902.
43. Morris CR, Kuypers FA, Larkin S, Vichinsky EP, Styles LA. Patterns of arginine and nitric oxide in patients with sickle cell disease with vaso-occlusive crisis and acute chest syndrome. J Pediatr Hematol Oncol. 2000;22(6):515–520.
44. Morris CR, Kato GJ, Poljakovic M, et al. Dysregulated arginine metabolism, hemolysis-associated pulmonary hypertension, and mortality in sickle cell disease. JAMA. 2005;294(1):81–90.
45. Vilas-Boas W, Figueiredo CV, Pitanga TN, et al. Endothelial nitric oxide synthase (-786T>C) and endothelin-1 (5665G>T) gene polymorphisms as vascular dysfunction risk factors in sickle cell anemia. Gene Regul Syst Bio. 2016;10:67–72.
46. Spiecker M, Darius H, Kaboth K, Hübner F, Liao JK. Differential regulation of endothelial cell adhesion molecule expression by nitric oxide donors and antioxidants. J Leukoc Biol. 1998;63(6):732–739.
47. Swerlick RA, Eckman JR, Kumar A, Jeitler M, Wick TM. Alpha 4 beta 1-integrin expression on sickle reticulocytes: vascular cell adhesion molecule-1-dependent binding to endothelium. Blood. 1993;82(6): 1891–1899.