Polymorphism in the HMOX1 Gene is Associated with High Levels of Fetal Hemoglobin in Brazilian Patients with Sickle Cell Anemia

REFERENCES

• Bunn HF. Pathogenesis and treatment of sickle cell disease. N Engl J Med. 1997;337(11):762–769.
   Google Scholar
• Gonçalves MS, Bomfim GC, Maciel E, βS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil. Braz J Med Biol Res. 2003;36(10):1283–1288.
   Google Scholar
• Zago MA, Costa FF, Bottura C, Ione IG. Hereditary hemoglobin disorders in a Brazilian population. Hum Hered. 1983;33(2):125–129.
   Google Scholar
• Zago MA, Costa FF, Freitas TC, Bottura C. Clinical, hematological and genetic features of sickle cell anemia and sickle β-thalassemia in a Brazilian population. Clin Genet. 1980;18(1):58–64.
   Google Scholar
• Salzano FM. Incidence, effects and management of sickle cell disease in Brazil. Am J Pediatr Hematol Oncol. 1985;7(3):240–244.
   Google Scholar
• Steinberg MH. Pathophysiology of sickle cell disease. Bailliére’s Clin Haematol. 1998;11(1):163–184.
   Google Scholar
• Steinberg MH, Adewoye AH. Modifier genes and sickle cell anemia. Curr Opin Hematol. 2006;13(3):131–136.
   Google Scholar
• Adams GT, Snieder H, McKie VC, Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genome wide screen. BMC Med Genet. 2003;4:6–15.
   Google Scholar
• Akinsheye I, Alsultan A, Solovieff N, Fetal hemoglobin in sickle cell anemia. Blood. 2011;118(1):19–27.
   Google Scholar
• Hardison RC, Chui DHK, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225–233 (http://globin.cse.psu.edu).
   Google Scholar
• Gilman JG, Huisman THJ. DNA sequence variation associated with elevated fetal Gγ globin production. Blood. 1985;66(4):783–787.
   Google Scholar
• Menzel S, Garner C, Gut I, A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet. 2007;39(10):1197–1199.
   Google Scholar
• Thein SL, Menzel S. Discovering the genetics underlying foetal haemoglobin production in adults. Br J Haematol. 2009;145(4):455–467.
   Google Scholar
• Bauer DE, Orkin SH. Update on fetal hemoglobin gene regulation in hemoglobinopathies. Curr Opin Pediatr. 2011;23(1):1–8.
   Google Scholar
• Zhou D, Liu K, Sun CW, Pawlik KM, Townes TM. KLF1 regulates BCL11A expression and γ- to β-globin gene switching. Nat Genet. 2010;42(9):742–744.
   Google Scholar
• Borg J, Papadopoulos P, Georgitsi M, Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet. 2010;42(9):801–805.
   Google Scholar
• Satta S, Perseu L, Moi P, Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin. Haematologica. 2011;96(5):767–770.
   Google Scholar
• Perseu L, Satta S, Moi P, KLF1 gene mutations cause borderline HbA(2). Blood. 2011;118(16):4454–4458.
   Google Scholar
• Satta S, Perseu L, Maccioni L, Giagu N, Galanello R. Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation. Blood Cells Mol Dis. 2012;48(1):22–24.
   Google Scholar
• 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.
   Google Scholar
• Nacoulma EW, Sawadogo D, Sakandé J, Influence of fetal haemoglobin rate (FHb) on the oxidizing stress in homozygote sickle cell patient living in Abidjan, Côte-d'Ivoire. Bull Soc Pathol Exot. 2006;99(4):241–244.
   Google Scholar
• Repka T, Hebbel RP. Hydroxyl radical formation by sickle erythrocyte membranes: role of pathologic iron deposits and cytoplasmic reducing agents. Blood. 1991;78(10):2753–2758.
   Google Scholar
• Klings ES, Farber HW. Role of free radicals in the pathogenesis of acute chest syndrome in sickle cell disease. Respir Res. 2001;2(5):280–285.
   Google Scholar
• Kaul DK, Hebbel RP. Hypoxia/reoxygenation causes inflammatory response in transgenic sickle mice but not in normal mice. J Clin Invest. 2000;106(3):411–420.
   Google Scholar
• Osarogiagbon UR, Choong S, Belcher JD, Vercellotti GM, Paller MS, Hebbel RP. Reperfusion injury pathophysiology in sickle transgenic mice. Blood. 2000;96(1):314–320.
   Google Scholar
• Griendling KK, Sorescu D, Ushio-Fukai M. NAD(P)H oxidase: role in cardiovascular biology and disease. Circ Res. 2000;86(5):494–501.
   Google Scholar
• Ushio-Fukai M, Zafari AM, Fukui T, Ishizaka N, Griendling KK. p22phox Is a critical component of the superoxide-generating NADH/NADPH oxidase system and regulates angiotensin II-induced hypertrophy in vascular smooth muscle cells. J Biol Chem. 1996;271(38):23317–23321.
   Google Scholar
• Otterbein LE, Soares MP, Yamashita K, Bach FH. Heme oxygenase-1: unleashing the protective properties of heme. Trends Immunol. 2003;24(8):449–455.
   Google Scholar
• Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor: Cold Spring Harbor Press, 1989.
   Google Scholar
• R Development Core Team. R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. ISBN 3-900051-07-0, 2011, URL http://www.R-project.org/.
   Google Scholar
• Powars DR, Schroeder WA, Weiss JN, Chan LS, Azen SP. Lack of influence of fetal hemoglobin levels or erythrocyte indices on the severity of sickle cell anemia. J Clin Invest. 1980;65(3):732–740.
   Google Scholar
• Serjeant GR, Richards R, Barbor PR, Milner PF. Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies. Br Med J. 1968;3(5610):86–91.
   Google Scholar
• Gilman JG, Huisman THJ. Two independent genetic factors in the β-globin gene cluster are associated with high Gγ-levels in the Hb F of SS patients. Blood. 1984;64(2):452–457.
   Google Scholar
• Lettre G, Sankaran VG, Bezerra MA, DNA polymorphisms at the BCL11A, HBSIL-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci USA. 2008;105(33):11869–11874.
   Google Scholar
• Uda M, Galanello R, Sanna S, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia. Proc Natl Acad Sci USA. 2008;105(5):1620–1625.
   Google Scholar
• Emokpae AM, Uadia PO, Kuliya-Gwarzo A. Antioxidant enzymes and acute phase proteins correlate with marker of lipid peroxide in adult Nigerian sickle cell disease patients. Iranian J Basic Med Sci. 2010;13(4):177–182.
   Google Scholar
• Steinberg MH. Pathophysiologically based drug treatment of sickle cell disease. Trends Pharmacol Sci. 2006;27(4):204–210.
   Google Scholar
• Powars DR, Weiss JN, Chan LS, Schroeder WA. Is there a threshold level hemoglobin that ameliorates morbidity in sickle cell anemia? Blood. 1984;63(4):921–926.
   Google Scholar
• Ito D, Murata M, Watanabe K, C242T polymorphism of NADPH oxidase p22phox gene and ischemic cerebrovascular disease in the Japanese population. Stroke. 2000;31(4):936–939.
   Google Scholar
• Guzik TJ, West NE, Black E, Functional effect of the C242T polymorphism in the NAD(P)H oxidase p22phox gene on vascular superoxide production in atherosclerosis. Circulation. 2000;102(15):1744–1747.
   Google Scholar
• Nasti S, Spallarossa P, Altieri P, C242T Polymorphism in CYBA gene (p22phox) and risk of coronary artery disease in a population of Caucasian Italians. Dis Markers. 2006;22(3):167–173.
   Google Scholar
• Moreno MU, San José G, Orbe J, Preliminary characterisation of the promoter of the human p22phox gene: identification of a new polymorphism associated with hypertension. FEBS Lett. 2003;542(1-3):27–31.
   Google Scholar
• Kokubo Y, Iwai N, Tago N, Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population: the Suita Study. Circ J. 2005;69(2):138–142.
   Google Scholar
• Lim SC, Goh SK, Lai YR, Relationship between common functional polymorphisms of the p22phox gene (−930A>G and +242C>T) and nephropathy as a result of Type 2 diabetes in a Chinese population. Diabet Med. 2006;23(9):1037–1041.
   Google Scholar
• Dhalla NS, Temsah RM, Netticadan T. Role of oxidative stress in cardiovascular diseases. J Hypertens. 2000;18(6):655–673.
   Google Scholar
• Ono K, Goto Y, Takagi S, A promoter variant of the heme oxygenase-1 gene may reduce the incidence of ischemic heart disease in Japanese. Atherosclerosis. 2004;173(2):315–319.
   Google Scholar
• Ono K, Mannami T, Iwai N. Association of a promoter variant of the haeme oxygenase-1 gene with hypertension in women. J Hypertens. 2003;21(8):1497–1503.
   Google Scholar
• Rueda B, Oliver J, Robledo G, HO-1 promoter polymorphism associated with rheumatoid arthritis. Arthritis Rheum. 2007;56(12):3953–3958.
   Google Scholar
• Cao YA, Kusy S, Luong R, Wong RJ, Stevenson DK, Contag CH. Heme oxygenase-1 deletion affects stress erythropoiesis. PLoS One. 2011;6(5):e20634.
   Google Scholar