Pharmacogenomics of sickle cell disease: steps toward personalized medicine

References

• WangWCWareREMillerSTHydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG)Lancet201137797781663167221571150
   PubMed Web of Science ®Google Scholar
• PatrinosGPInnocentiFPharmacogenomics: paving the path to personalized medicinePharmacogenomics201011214114620136354
   PubMedGoogle Scholar
• PatrinosGPGrosveldFGPharmacogenomics and therapeutics of hemoglobinopathiesHemoglobin2008321–222923618275000
   PubMed Web of Science ®Google Scholar
• SteinbergMHVoskaridouEKutlarAConcordant fetal hemoglobin response to hydroxyurea in siblings with sickle cell diseaseAm J Hematol200372212112612555216
   PubMed Web of Science ®Google Scholar
• TafraliCPaiziABorgJGenomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacyPharmacogenomics201314546948323556445
   PubMed Web of Science ®Google Scholar
• ChalikiopoulouCTavianatouAGSgourouAGenomic 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 patientsPharmacogenomics201617439340326895070
   PubMed Web of Science ®Google Scholar
• GallienneAEDréauHMSchuhAOldJMHendersonSTen novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adultsHaematologica201297334034322102705
   PubMed Web of Science ®Google Scholar
• BorgJPhylactidesMBartsakouliaMKLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β hemoglobinopathy patientsPharmacogenomics201213131487150023057549
   PubMed Web of Science ®Google Scholar
• SteinbergMHLuZHBartonFBTerrinMLCharacheSDoverGJFetal hemoglobin in sickle cell anemia: determinants of response to hydroxyurea. Multicenter Study of HydroxyureaBlood1997893107810889028341
   PubMed Web of Science ®Google Scholar
• BakanaySMDainerEClairBMortality in sickle cell patients on hydroxyurea therapyBlood2005105254554715454485
   PubMed Web of Science ®Google Scholar
• KumkhaekCTaylorJGZhuJHoppeCKatoGJRodgersGPFetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemiaBr J Haematol2008141225425918318767
   PubMed Web of Science ®Google Scholar
• WareREDespotovicJMMortierNAPharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemiaBlood2011118184985499121876119
   PubMed Web of Science ®Google Scholar
• GraviaAChondrouVSgourouAIndividualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patientsPharmacogenomics201415101355136425155936
   PubMed Web of Science ®Google Scholar
• AlebouyehMMoussaviFHaddad-DeylamiHVossoughPHydroxyurea in the treatment of major beta-thalassemia and importance of genetic screeningAnn Hematol200483743043314722738
   PubMed Web of Science ®Google Scholar
• YavarianMKarimiMBakkerEHarteveldCLGiordanoPCResponse to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patientsHaematologica200489101172117815477200
   PubMed Web of Science ®Google Scholar
• KohneEHemoglobinopathies: clinical manifestations, diagnosis, and treatmentDtsch Arztebl Int201110831–3253254021886666
   PubMed Web of Science ®Google Scholar
• JolyPGagnieuMCBardelCFrancinaAPondarreCMartinCGenotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patientsAm J Hematol201287553453622430884
   PubMed Web of Science ®Google Scholar
• JhunEHYaoYHeYPrevalence of pain-related single nucleotide polymorphisms in patients of African origin with sickle cell diseasePharmacogenomics201516161795180626555434
   PubMed Web of Science ®Google Scholar
• NielsenLMOlesenAESatoHChristrupLLDrewesAMAssociation between gene polymorphisms and pain sensitivity assessed in a multi-modal multi-tissue human experimental model - An Explorative StudyBasic Clin Pharmacol Toxicol2016119436036627061127
   PubMed Web of Science ®Google Scholar
• Reyes-GibbyCCSheteSRakvågTExploring joint effects of genes and the clinical efficacy of morphine for cancer pain: OPRM1 and COMT genePain20071301–2253017156920
   PubMed Web of Science ®Google Scholar
• YeeMMJosephsonCHillCECytochrome P450 2D6 polymorphisms and predicted opioid metabolism in African American children with sickle cell diseaseJ Pediatr Hematol Oncol2013357e301e30523619115
   PubMed Web of Science ®Google Scholar
• GreenNSBarralSGenetic modifiers of HbF and response to hydroxyurea in sickle cell diseasePediatr Blood Cancer201156217718120830771
   PubMed Web of Science ®Google Scholar
• GalarneauGPalmerCDSankaranVGOrkinSHHirschhornJNLettreGFine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variationNat Genet201042121049105121057501
   PubMed Web of Science ®Google Scholar
• BauerDEKamranSCLessardSAn erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin levelScience2013342615525325724115442
   PubMed Web of Science ®Google Scholar
• DengWRuponJWKrivegaIReactivation of developmentally silenced globin genes by forced chromatin loopingCell2014158484986025126789
   PubMed Web of Science ®Google Scholar
• MaQWyszynskiDFFarrellJJFetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyureaPharmacogenomics J20077638639417299377
   PubMed Web of Science ®Google Scholar
• GraviaAChondrouVKolliopoulouACorrelation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacyPharmacogenomics Epub20161021
   PubMed Web of Science ®Google Scholar
• SiateckaMBiekerJJThe multifunctional role of EKLF/KLF1 during erythropoiesisBlood201111882044205421613252
   PubMed Web of Science ®Google Scholar
• SheehanVACrosbyJRSaboAWhole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemiaPLoS One2014910e11074025360671
   PubMed Web of Science ®Google Scholar
• KrivegaIByrnesCde VasconcellosJFInhibition of G9a methyltransferase stimulates fetal hemoglobin production by facilitating LCR/γ-globin loopingBlood2015126566567225979948
   PubMed Web of Science ®Google Scholar
• de VasconcellosJFFasanoRMLeeYTLIN28A expression reduces sickling of cultured human erythrocytesPLoS One201499e10692425188417
   PubMed Web of Science ®Google Scholar
• QuimbyKRHambletonIRLandisRCIntravenous infusion of haptoglobin for the prevention of adverse clinical outcome in Sickle Cell DiseaseMed Hypotheses201585442443226141635
   PubMed Web of Science ®Google Scholar
• WoodKCHsuLLGladwinMTSickle cell disease vasculopathy: a state of nitric oxide resistanceFree Radic Biol Med20084481506152818261470
   PubMed Web of Science ®Google Scholar
• TsukadaTYokoyamaKAraiTEvidence of association of the ecNOS gene polymorphism with plasma NO metabolite levels in humansBiochem Biophys Res Commun199824511901939535806
   PubMed Web of Science ®Google Scholar
• YousrySMEllithyHNShahinGHEndothelial nitric oxide synthase gene polymorphisms and the risk of vasculopathy in sickle cell diseaseHematology201621635936726903375
   PubMed Web of Science ®Google Scholar
• NishankSSSinghMPYadavRGuptaRBGadgeVSGwalAEndothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in IndiaJ Hum Genet2013581277577924088668
   PubMed Web of Science ®Google Scholar
• ElshamaaMFSabrySBadrAEndothelial nitric oxide synthase gene intron4 VNTR polymorphism in patients with chronic kidney diseaseBlood Coagul Fibrinolysis201122648749221519233
   PubMed Web of Science ®Google Scholar
• SharanKSurreySBallasSAssociation of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell diseaseBr J Haematol2004124224024314687036
   PubMed Web of Science ®Google Scholar
• TantawyAAAdlyAAIsmailEAAlySHEndothelial nitric oxide synthase gene intron 4 VNTR polymorphism in sickle cell disease: relation to vasculopathy and disease severityPediatr Blood Cancer201562338939425263931
   PubMed Web of Science ®Google Scholar
• VargasAEda SilvaMASillaLChiesJAPolymorphisms of chemokine receptors and eNOS in Brazilian patients with sickle cell diseaseTissue Antigens200566668369016305685
   PubMedGoogle Scholar
• AtagaKIOrringerEPRenal abnormalities in sickle cell diseaseAm J Hematol200063420521110706765
   PubMed Web of Science ®Google Scholar
• WangYKikuchiSSuzukiHNagaseSKoyamaAEndothelial nitric oxide synthase gene polymorphism in intron 4 affects the progression of renal failure in non-diabetic renal diseasesNephrol Dial Transplant199914122898290210570094
   PubMed Web of Science ®Google Scholar
• MorrisCRKuypersFALarkinSVichinskyEPStylesLAPatterns of arginine and nitric oxide in patients with sickle cell disease with vaso-occlusive crisis and acute chest syndromeJ Pediatr Hematol Oncol200022651552011132219
   PubMed Web of Science ®Google Scholar
• MorrisCRKatoGJPoljakovicMDysregulated arginine metabolism, hemolysis-associated pulmonary hypertension, and mortality in sickle cell diseaseJAMA20052941819015998894
   PubMed Web of Science ®Google Scholar
• Vilas-BoasWFigueiredoCVPitangaTNEndothelial nitric oxide synthase (−786T>C) and endothelin-1 (5665G>T) gene polymorphisms as vascular dysfunction risk factors in sickle cell anemiaGene Regul Syst Bio2016106772
   Google Scholar
• SpieckerMDariusHKabothKHübnerFLiaoJKDifferential regulation of endothelial cell adhesion molecule expression by nitric oxide donors and antioxidantsJ Leukoc Biol19986367327399620666
   PubMed Web of Science ®Google Scholar
• SwerlickRAEckmanJRKumarAJeitlerMWickTMAlpha 4 beta 1-integrin expression on sickle reticulocytes: vascular cell adhesion molecule-1-dependent binding to endotheliumBlood1993826189118997691241
   PubMed Web of Science ®Google Scholar