Relationship of the Interaction Between Two Quantitative Trait Loci with γ-Globin Expression in β-Thalassemia Intermedia Patients

References

• Terrenato L, Bertilaccio C, Spinelli P, Colombo B. The switch from Haemoglobin F to A: the time course of qualitative and quantitative variations of haemoglobins after birth. Br J Haematol. 1981;47(1):31–41.
   PubMed Web of Science ®Google Scholar
• Bank A. Regulation of human fetal hemoglobin: new players, new complexities. Blood. 2006;107(2):435–443.
   PubMed Web of Science ®Google Scholar
• Miyoshi K, Kaneto Y, Kawai H, et al. X-linked dominant control of F-cells in normal adult life: characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome. Blood. 1988;72(6):1854–1860.
   PubMed Web of Science ®Google Scholar
• Rutland PC, Pembrey ME, Davies T. The estimation of fetal haemoglobin in healthy adults by radioimmunoassay. Br J Haematol. 1983;53(4):673–682.
   PubMed Web of Science ®Google Scholar
• Stuart MJ, Nagel RL. Sickle-cell disease. Lancet. 2004;364(9442):1343–1360.
   PubMed Web of Science ®Google Scholar
• Thein SL. Genetic modifiers of the β-haemoglobinopathies. Br J Haematol. 2008;141(3):357–366.
   PubMed Web of Science ®Google Scholar
• Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001;2(4):245–255.
   PubMed Web of Science ®Google Scholar
• Garner C, Tatu T, Game L, et al. A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis. GeneScreen. 2000;1(1):9–14.
   Google Scholar
• Garner C, Tatu T, Reittie JE, et al. Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood. 2000;95(1):342–346.
   PubMed Web of Science ®Google Scholar
• Garner CP, Tatu T, Best S, et al. Evidence of genetic interaction between the β-globin complex and chromosome 8q in the expression of fetal hemoglobin. Am J Hum Genet. 2002;70(3):793–799.
   PubMed Web of Science ®Google Scholar
• Lettre G, Sankaran VG, Bezerra MA, et al. DNA polymorphisms at the BCL11A, HBS1L-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.
   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(10):1197–1199.
   PubMed Web of Science ®Google Scholar
• Uda M, Galanello R, Sanna S, et al. 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.
   PubMed Web of Science ®Google Scholar
• Wahlberg K, Jiang J, Rooks H, et al. The HBS1L-MYB intergenic interval associated with elevated Hb F levels shows characteristics of a distal regulatory region in erythroid cells. Blood. 2009;114(6):1254–1262.
   PubMed Web of Science ®Google Scholar
• Kerdpoo S, Limweeraprajak E, Tatu T. Effect of Swiss-type heterocellular HPFH from XmnI-Gγ and HBBP1 polymorphisms on Hb F, Hb E, MCV and MCH levels in Thai Hb E carriers. Int J Hematol. 2014;99(3):338–344.
   PubMed Web of Science ®Google Scholar
• Nadkarni A, Dabke P, Colah R, Ghosh K. Molecular understanding of Indian untransfused thalassemia intermedia. Int J Lab Hematol. 2015;37(6):791–796.
   PubMed Web of Science ®Google Scholar
• Pereira C, Relvas L, Bento C, et al. Polymorphic variations influencing fetal hemoglobin levels: association study in β-thalassemia carriers and in normal individuals of Portuguese origin. Blood Cells Mol Dis. 2015;54(4):315–320.
   PubMed Web of Science ®Google Scholar
• Sampietro M, Thein SL, Contreras M, Pazmany L. Variation of Hb F and F-cell number with the Gγ Xmn I (C>T) polymorphism in normal individuals. Blood. 1992;79(3):832–833.
   PubMed Web of Science ®Google Scholar
• Thein SL, Menzel S, Lathrop M, Garner C. Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet. 2009;18(R2):R216–R223.
   PubMed Web of Science ®Google Scholar
• Garner C, Menzel S, Martin C, et al. Interaction between two quantitative trait loci affects fetal haemoglobin expression. Ann Hum Genet. 2005;69(Pt 6):707–714.
   PubMed Web of Science ®Google Scholar
• Garner C, Silver N, Best S, et al. Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin. Blood. 2004;104(7):2184–2186.
   PubMed Web of Science ®Google Scholar
• Aliahmad P, Seksenyan A, Kaye J. The many roles of TOX in the immune system. Current Opinion Immunol. 2012;24(2):173–177.
   PubMed Web of Science ®Google Scholar
• Shmueli O, Horn-Saban S, Chalifa-Caspi V, et al. GeneNote: whole genome expression profiles in normal human tissues. Comptes Rendus Biologies. 2003;326(10-11):1067–1072.
   PubMed Web of Science ®Google Scholar
• O’Flaherty E, Kaye J. TOX defines a conserved subfamily of HMG-box proteins. BMC Genomics. 2003;4(1):13–23.
   PubMed Web of Science ®Google Scholar
• Aidinis V, Bonaldi T, Beltrame M, et al. The RAG1 homeodomain recruits HMG1 and HMG2 to facilitate recombination signal sequence binding and to enhance the intrinsic DNA-bending activity of RAG1-RAG2. Mol Cell Biol. 1999;19(10):6532–6542.
   PubMed Web of Science ®Google Scholar
• Read CM, Cary PD, Crane-Robinson C, et al. Solution structure of a DNA-binding domain from HMG1. Nucleic Acids Res. 1993;21(15):3427–3436.
   PubMed Web of Science ®Google Scholar
• Ma Q, Wyszynski DF, Farrell JJ, et al. Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. Pharmacogenom J. 2007;7(6):386–394.
   PubMed Web of Science ®Google Scholar
• Sebastiani P, Wang L, Nolan VG, et al. Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations. Am J Hematol. 2008;83(3):189–895.
   PubMed Web of Science ®Google Scholar
• Ngo DA, Steinberg MH. Genomic approaches to identifying targets for treating β hemoglobinopathies. BMC Med Genom. 2015;8(1):44–56.
   PubMed Web of Science ®Google Scholar
• Safaya S, Rieder RF, Dowling CE, et al. Homozygous β-thalassemia without anemia. Blood. 1989;73(1):324–328.
   PubMed Web of Science ®Google Scholar
• Zago MA, Costa FF, Bottura C. β+-Thalassemia intermedia with low Hb F. Klin Wochen. 1983;61(2):95–98.
   PubMedGoogle Scholar
• Croteau-Chonka DC, Rogers AJ, Raj T, et al. Expression quantitative trait loci information improves predictive modeling of disease relevance of non-coding genetic variation. PLoS One. 2015;10(10):e0140758.
   PubMed Web of Science ®Google Scholar
• Kioussis D. Gene regulation: kissing chromosomes. Nature. 2005;435(7042):579–580.
   PubMed Web of Science ®Google Scholar
• Wei WH, Hemani G, Haley CS. Detecting epistasis in human complex traits. Nat Rev Genet. 2014;15(11):722–733.
   PubMed Web of Science ®Google Scholar
• Fritz AJ, Stojkovic B, Ding H, et al. Cell type specific alterations in interchromosomal networks across the cell cycle. PLoS Comput Biol. 2014;10(10):e1003857.
   PubMed Web of Science ®Google Scholar
• Kalhor R, Tjong H, Jayathilaka N, et al. Genome architectures revealed by tethered chromosome conformation capture and population-based modeling. Nat Biotechnol. 2012;30(1):90–98.
   Web of Science ®Google Scholar
• Becker J, Wendland JR, Haenisch B, et al. A systematic eQTL study of cis-trans epistasis in 210 HapMap individuals. Eur J Hum Genet. 2012;20(1):97–101.
   PubMed Web of Science ®Google Scholar
• Cavalli G. Chromosome kissing. Current Opinion Genet Develop. 2007;17(5):443–450.
   PubMed Web of Science ®Google Scholar
• Harmston N, Lenhard B. Chromatin and epigenetic features of long-range gene regulation. Nucleic Acids Res. 2013;41(15):7185–7199.
   PubMed Web of Science ®Google Scholar