First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients

References

• Bonello-Palot N, Badens C. Molecular basis of thalassemia syndromes and genetic modifiers. Rev Med Genet Hum. 2010;1:1–10.
   Google Scholar
• Musallam KM, Sankaran VG, Cappellini MD, et al. Fetal hemoglobin levels and morbidity in untransfused patients with β-thalassemia intermedia. Blood. 2012;119:364–367.
   PubMed Web of Science ®Google Scholar
• Thein SL. Genetic modifiers of beta-thalassemia. Haematologica. 2005;90:649–660.
   PubMed Web of Science ®Google Scholar
• Premawardhena A, Fisher CA, De Silva S, et al. A novel molecular basis for beta thalassemia intermedia poses new questions about its pathophysiology. Blood. 2005;106:3251–3255.
   PubMed Web of Science ®Google Scholar
• Thein SL, Menzel S. Discovering the genetics underlying foetal haemoglobin production in adults. Br J Haematol. 2009;145:455–467.
   PubMed Web of Science ®Google Scholar
• Zeratal-Zidani S, Ducrocq R, Sahbatou M, et al. Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the beta globin gene. Eur J Hum Genet. 2002;10:320–326.
   PubMed Web of Science ®Google Scholar
• Labie D, Pagnier J, Lapoumeroulie C, et al. Common haplotype dependency of high Gγ-globin gene expression and high Hb F levels in β-thalassemia and sickle cell anemia patients. Proc Natl Acad Sci USA. 1985;82:2111–2114.
   PubMed Web of Science ®Google Scholar
• Bibi A, Messaoud T, Fattoum S. Haplotypes linked to three rare beta-thalassemia mutations, originally reported in Tunisia. Hemoglobin. 2006;30:175–181.
   PubMed Web of Science ®Google Scholar
• Higgs DR, Goodbourn SE, Lamb J, et al. Alpha-thalassaemia caused by a polyadenylation signal mutation. Nature. 1983;306:398–400.
   PubMed Web of Science ®Google Scholar
• 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. 1992;80:816–824.
   PubMed Web of Science ®Google Scholar
• Garner C, Tatu T, Best S, et al. Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin. Am J Hum Genet. 2002;70:793–739.
   PubMed Web of Science ®Google Scholar
• Menzel S, Garner C, Gut I, et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet. 2007;39:1197–1199.
   PubMed Web of Science ®Google Scholar
• Sedgewick AE, Timofeev N, Sebastiani P, et al. BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies. Blood Cells Mol Dis. 2008;41:255–258.
   PubMed Web of Science ®Google Scholar
• 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. 2008;105:11869–11874.
   PubMed Web of Science ®Google Scholar
• Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3:a011700.
   PubMed Web of Science ®Google Scholar
• Mejri A, Siala H, Ouali F, et al. Identification of candidate genes involved in clinical variability among Tunisian patients with β-thalassemia. Gene. 2012;506:166–172.
   PubMed Web of Science ®Google Scholar
• Antonson P, Stellan B, Yamanaka R, Xanthopoulos KG. A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is expressed in cells of lymphoid and myeloid lineages and is localized on chromosome 14q11.2 close to the T-cell receptor alpha/delta locus. Genomics. 1996;35:30–38.
   PubMed Web of Science ®Google Scholar
• Chumakov AM, Grillier I, Chumakova E, et al. Cloning of the novel human myeloid-cell-specific C/EBP-epsilon transcription factor. Mol Cell Biol. 1997;17:1375–1386.
   PubMed Web of Science ®Google Scholar
• Gery S, Gombart AF, Fung YK, Koeffler HP. C/EBPepsilon interacts with retinoblastoma and E2F1 during granulopoiesis. Blood. 2004;103:828–835.
   PubMed Web of Science ®Google Scholar
• Yamanaka R, Barlow C, Lekstrom-Himes J, et al. Impaired granulopoiesis, myelodysplasia, and early lethality in CCAAT/enhancer binding protein epsilon-deficient mice. Proc Natl Acad Sci USA. 1997;94:13187–13192.
   PubMed Web of Science ®Google Scholar
• Nakajima H, Watanabe N, Shibata F, et al. N-terminal region of CCAAT/enhancer-binding protein epsilon is critical for cell cycle arrest, apoptosis, and functional maturation during myeloid differentiation. J Biol Chem. 2006;281:14494–14502.
   PubMed Web of Science ®Google Scholar
• Williams SC, Du Y, Schwartz RC, et al. C/EBPepsilon is a myeloid-specific activator of cytokine, chemokine, and macrophage-colony-stimulating factor receptor genes. J Biol Chem. 1998;273:13493–13501.
   PubMed Web of Science ®Google Scholar
• Ramji DP, Foka P. CCAAT/enhancer-binding proteins: structure, function and regulation. Biochem J. 2002;365:561–575.
   PubMed Web of Science ®Google Scholar
• Dore F, Bonfigli S, Pardini S, Longinotti M. Serum interleukin-8 levels in thalassemia intermedia. Haematologica. 1995;80:431–433.
   PubMed Web of Science ®Google Scholar
• Oztürk O, Yaylim I, Aydin M, et al. Increased plasma levels of interleukin-6 and interleukin-8 in beta-thalassaemia major. Haematologia (Budap). 2001;31:237–244.
   PubMedGoogle Scholar
• Bienvenu T, Meunier C, Bousquet S, et al. Different procedures for the isolation of DNA from blood samples. Ann De Biol Clin (Paris). 1999;57:77–84.
   PubMed Web of Science ®Google Scholar
• Fattoum S, Messaoud T, Bibi A. Molecular basis of beta-thalassemia in the population of Tunisia. Hemoglobin. 2004;28:177–187.
   PubMed Web of Science ®Google Scholar
• Trabuchet G, Elion J, Baudot G, et al. Origin and spread of beta-globin gene mutations in India, Africa, and Mediterranea: analysis of the 5' flanking and intragenic sequences of beta S and beta C genes. Hum Biol. 1991;63:241–252.
   PubMed Web of Science ®Google Scholar
• Siala H, Ouali F, Messaoud T, et al. alpha-Thalassaemia in Tunisia: some epidemiological and molecular data. J Genet. 2008;87:229–234.
   PubMed Web of Science ®Google Scholar
• Williams SC, Cantwell CA, Johnson PF. A family of C/EBP related proteins capable of forming covalently linked leucine zipper dimers in vitro. Genes Dev. 1991;5:1553–1569.
   PubMed Web of Science ®Google Scholar
• Abdennaji Guenounou B, Yacoubi Loueslati B, Buhler S, et al. HLA class II genetic diversity in Southern Tunisia and the Mediterranean area. Int J Immunogenet. 2006;33:93–103.
   PubMed Web of Science ®Google Scholar
• 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;13:1487–1500.
   PubMed Web of Science ®Google Scholar
• Karimi M, Jooya P, Haghpanah S, et al. Evaluation of the relationship between Hb F levels and nucleated red blood cells with morbidity in non transfusion-dependent thalassemia patients. Hemoglobin. 2016;40:250–256.
   PubMed Web of Science ®Google Scholar
• Ribeil JA, Arlet JB, Dussiot M, et al. Ineffective erythropoiesis in β-thalassemia. ScientificWorldJournal. 2013;2013:394295.
   PubMed Web of Science ®Google Scholar