Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major

Galanello, 2010, Beta-thalassemia, Orphanet J. Rare Dis., 21, 5 Khaled, 2012, Mechanism of renal disease in b-thalassemia, Am. Soc. Nephrol., 23, 1299, 10.1681/ASN.2011111070 Aessopos, 2005, Thalassemia heart disease: a comparative evaluation of thalassemia major and thalassemia intermedia, Chest, 127, 1523, 10.1378/chest.127.5.1523 Kremastinos, 2010, β-thalassemia cardiomyopathy: history, present considerations, and future perspectives. Circulation, Heart Failure, 3, 451, 10.1161/CIRCHEARTFAILURE.109.913863 Koohi, 2019, Cardiac complications and iron overload in beta thalassemia major patients—a systematic review and meta-analysis, Ann. Hematol., 98, 1323, 10.1007/s00277-019-03618-w Tantawy, 2014, Early Predictors of Renal Dysfunction in Egyptian Patients with β-Thalassemia Major and Intermedia, Mediterr J. Hematol. Infect. Dis., 6 Ponticelli, 2010, Renal complications in transfusion-dependent beta thalassaemia, Blood Rev., 24, 239, 10.1016/j.blre.2010.08.004 Bakr, 2014, Renal complications of beta-thalassemia major in children, Am. J. Blood Res., 4, 1 Sleiman, 2018, Renal Complications in Thalassemia, Thalass Rep., 8, 7481, 10.4081/thal.2018.7481 Makmettakul, 2020, Cardiorenal syndrome in thalassemia patients, BMC Nephrol., 21, 10.1186/s12882-020-01990-8 Q. Shazia, Z.H. Mohammad, T. Rahman, H.U. Shekhar, Correlation of oxidative stress with serum trace element levels and antioxidant enzyme status in Beta- thalassemia major patients: A review of the literature, Anemia 2012; 2012: 270923. Kukongviriyapan, 2008, Endothelial dysfunction and oxidant status in pediatric patients with hemoglobin E-beta thalassemia, Pediatr. Cardiol., 29, 130, 10.1007/s00246-007-9107-x Rudic, 1999, Nitric oxide in endothelial dysfunction and vascular remodeling: clinical correlates and experimental links, Am. J. Hum. Genet., 64, 673, 10.1086/302304 Cheung, 2002, Arterial stiffness and endothelial function in patients with beta-thalassemia major, Circulation, 106, 2561, 10.1161/01.CIR.0000037225.92759.A7 E. Stoyanova, M. Trudel, H. Felfly, W. Lemsaddek, D. Garcia, G. Cloutier, Vascular endothelial dysfunction in β-thalassemia occurs despite increased eNOS expression and preserved vascular smooth muscle cell reactivity to NO, PLoS One 7 (2012) e38089. Kowalczyk, 2015, The role of endothelin-1 and endothelin receptor antagonists in inflammatory response and sepsis, Arch Immunol. Therap. Exper., 63, 41, 10.1007/s00005-014-0310-1 Lerman, 2005, Endothelial function: cardiac events, Circulation, 25, 363, 10.1161/01.CIR.0000153339.27064.14 Vilas-Boas, 2016, Endothelial Nitric Oxide Synthase (–786T> C) and Endothelin-1 (5665G> T) Gene Polymorphisms as Vascular Dysfunction Risk Factors in Sickle Cell Anemia, Gene Regul. Sys. Biol., 10, 67 Murray, 2004, Endothelial monocyte-activating polypeptide-II (EMAP-II): a novel inducer of lymphocyte apoptosis, J. Leukoc. Biol., 75, 772, 10.1189/jlb.1003487 Mogylnytska, 2015, Endothelial monocyte-activating polypeptide-II: properties, functions, and pathogenetic significance, Fiziolohichnyi Zhurnal (Kiev Ukraine), 61, 102, 10.15407/fz61.01.102 Giardina, 2008, Thalassemia syndromes, 535 Tanner, 1966, Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. II., Arch. Dis. Child., 41, 613, 10.1136/adc.41.220.613 Cramer, 2008, Medication Compliance and Persistence: Terminology and Definitions, Value Health, 11, 44, 10.1111/j.1524-4733.2007.00213.x Vermylen, 2008, What is new in iron overload?, Eur. J. Pediatr., 167, 377, 10.1007/s00431-007-0604-y Silvilairat, 2008, Tissue doppler echocardiography reliably reflects severity of iron overload in pediatric patients with beta thalassemia, Eur. J. Echocardiogr., 9, 368 Tantawy, 2013, Flow cytometric assessment of circulating platelet and erythrocytes microparticles in young thalassemia major patients: relation to pulmonary hypertension and aortic wall stiffness, Eur. J. Haematol., 90, 508, 10.1111/ejh.12108 Molitch, 2004, American Diabetes Association. Nephropathy in diabetes, Diabetes Care, 27, S79, 10.2337/diacare.27.2007.S79 Shoeib, 2019, Endothelin-1 gene polymorphism in Egyptian patients with vitiligo, Menoufia Med. J., 32, 1019, 10.4103/mmj.mmj_862_17 Pashankar, 2008, Prevalence and risk factors of elevated pulmonary artery pressures in children with sickle cell disease, Pediatrics, 121, 777, 10.1542/peds.2007-0730 Morris, 2011, Thalassemia Clinical Research Network. Risk factors and mortality associated with an elevated tricuspid regurgitant jet velocity measured by Doppler-echocardiography in thalassemia: a Thalassemia Clinical Research Network report, Blood, 118, 3794, 10.1182/blood-2010-11-319152 Navarro, 2016, Polymorphism of the endothelin-1 gene (rs5370) is a potential contributor to sickle cell disease pathophysiology, Genes Dis., 3, 294, 10.1016/j.gendis.2016.09.002 Tantawy, 2015, Endothelial nitric oxide synthase gene intron 4 VNTR polymorphism in sickle cell disease: relation to vasculopathy and disease severity, Pediatr. Blood Cancer, 62, 389, 10.1002/pbc.25234 Ahmed, 2016, Polymorphism in endothelin-1 gene: An overview, Cur. Clin. Pharmacol., 11, 191, 10.2174/1574884711666160701000900 Aydın, 2014, Polymorphisms of endothelin 1 (G5665T and T-1370G) and endothelin receptor type A (C 70G and G-231A) in Graves' disease, Int. Immunopharmacol., 18, 198, 10.1016/j.intimp.2013.11.017 Fonseca, 2006, Endothelin axis polymorphisms in patients with scleroderma, Arthritis Rheum., 54, 3034, 10.1002/art.22036 Mantaka, 2012, Polymorphisms of genes related to endothelial cells are associated with primary biliary cirrhosis patients of Cretan origin, Hum. Immunol., 73, 829, 10.1016/j.humimm.2012.05.003 Tharaux, 2011, Endothelin in renal injury due to sickle cell disease, Contrib. Nephrol., 172, 185, 10.1159/000328699 Li, 2014, Peroxisome proliferator-activated receptor-a-mediated transcription of miR-199a2 attenuates endothelin-1 expression via hypoxia-inducible factor-1a, J. Biol. Chem., 289, 36031, 10.1074/jbc.M114.600775 C.S. Gonsalves, C. Li, P. Malik, S.M. Tahara, V.K. Kalra, Peroxisome proliferator-activated receptor-a-mediated transcription of miR-301a and miR-454 and their host gene SKA2 regulates endothelin-1 and PAI-1 expression in sickle cell disease, Biosci. Rep. 35 (2015) pii: e00275. Smith, 2015, Modulation of pain in pediatric sickle cell disease: understanding the balance between endothelin mediated vasoconstriction and apelin mediated vasodilation, Blood Cells Mol. Dis., 54, 155, 10.1016/j.bcmd.2014.11.016 Chaar, 2006, ET-1 and ecNOS gene polymorphisms and susceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia, Hematologica, 91, 1277 T.J. Thakur, A. Guindo, L.R. Cullifer, Y. Li, I.G. Imumorin, B.N. Thomas, Endothelin-1 but not endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease in Africa, Gene Reg. Syst. Biol. 8 (2014) 119e126. Gregoski, 2013, Interactive influences of ethnicity, endothelin-1 gene, and everyday discrimination upon nocturnal ambulatory blood pressure, Ann. Behav. Med., 45, 377, 10.1007/s12160-013-9472-z Sakai, 2013, Genetic polymorphisms associated with endothelial function in nonarteritic anterior ischemic optic neuropathy, Mol. Vis., 19, 213 A. Mansur, M. Steinau, A.F. Popov, S. Milenovic, C. Bireta, A. Weymann, H. Schotola, C.H. Wiese, T. Beissbarth, M. Tzvetkov, J. Hinz, Genetic polymorphisms in endothelin-1 as predictors for long-term survival and the cardiac index in patients undergoing on-pump cardiac surgery, PloS one 10 (2015) e0131155. Takata, 2013, A failure in endothelin-1 production from vitiligo keratinocytes in response to ultraviolet B irradiation, J. Dermatol. Sci., 71, 210, 10.1016/j.jdermsci.2013.04.030 Vašků, 2002, The double heterozygote of two endothelin-1 gene polymorphisms (G8002A and-3A/-4A) is related to big endothelin levels in chronic heart failure, Exper. Mol. Pathol., 73, 230, 10.1006/exmp.2002.2453 Treiber, 2003, Endothelin-1 gene Lys198Asn polymorphism and blood pressure reactivity, Hypertension, 42, 494, 10.1161/01.HYP.0000091266.41333.15 Lajemi, 2001, Endothelin gene variants and aortic and cardiac structure in never-treated hypertensives, Am. J. Hyperten, 14, 755, 10.1016/S0895-7061(01)02162-8 Brugada, 1997, Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy, J. Invest. Med., 45, 542 Dubovyk, 2018, Positive association between EDN1 rs5370 (Lys198Asn) polymorphism and large artery stroke in a Ukrainian population, Dis. Markers, 2018, 1, 10.1155/2018/1695782 Kiowski, 1995, Evidence for endothelin-1 mediated vasoconstriction in severe chronic heart failure, Lancet., 346, 732, 10.1016/S0140-6736(95)91504-4 Sakai, 1996, Inhibition of myocardial endothelin pathway improves long-term survival in heart failure, Nature, 384, 353, 10.1038/384353a0 Hasegawa, 1994, Endothelin-1-selective receptor in the arterial intima of patients with hypertension, Hyperten., 23, 288, 10.1161/01.HYP.23.3.288 Vadapalli, 2010, Endothelin-1 and endothelial nitric oxide polymorphisms in idiopathic pulmonary arterial hypertension, Int. J. Mol. Epidemiol. Genet., 1, 208 Ibrahim, 2012, The role of the biomarker and the genetic polymorphism of endothelin-1 in pulmonary arterial hypertension among Egyptians, Egy J. Chest Dis. Tub., 61, 495, 10.1016/j.ejcdt.2012.09.014 Kohan, 2011, Physiology of endothelin and the kidney, Compr. Physiol., 1, 883, 10.1002/cphy.c100039 Hua, 2003, Endothelin-1 activates mesangial cell ERK1/2 via EGF-receptor transactivation and caveolin-1 interaction, Am. J. Physiol. Renal Physiol., 284, F303, 10.1152/ajprenal.00127.2002 Hashemi, 2017, Association of Endothelin-1 rs5370 G> T gene polymorphism with the risk of nephrotic syndrome in children, J Nephropathol, 6, 138, 10.15171/jnp.2017.24 Maixnerová, 2007, The influence of three endothelin-1 polymorphisms on the progression of IgA nephropathy, Folia Biol. (Praha), 53, 27 Reiterová, 2006, The influence of the endothelin-converting enzyme-1 gene polymorphism on the progression of autosomal dominant polycystic kidney disease, Ren. Fail., 28, 21, 10.1080/08860220500461211 Zanatta, 2015, Endothelin-1 gene polymorphisms and diabetic kidney disease in patients with type 2 diabetes mellitus, Diabetol Metab Syndrome, 7, 1, 10.1186/s13098-015-0093-5 Fibach, 2008, The role of oxidative stress in hemolytic anemia, Curr. Mol. Med., 8, 609, 10.2174/156652408786241384 Sposi, 2019, Oxidative stress and iron overload in β-thalassemia: an overview, Beta Thalassemia, 3, 40 Rujito, 2015, Status of Superoxide dismutase in transfusion dependent thalassaemia, North Am. J. Med. Sci., 7, 194, 10.4103/1947-2714.157480 Vaculin, 2010, Role of oxidative stress in animal model of visceral pain, Neurosci. Lett., 477, 82, 10.1016/j.neulet.2010.04.037 Hamed, 2010, Renal functions in pediatric patients with beta-thalassemia major: relation to chelation therapy: original prospective study, Ital J. Pediatr., 25, 36 Laksmitawati, 2003, Iron status and oxidative stress in beta-thalassemia patients in jakarta, BioFactors, 19, 53, 10.1002/biof.5520190107 Abdalla, 2011, Increased oxidative stress and iron overload in jordanian β-thalassemic children, Hemoglobin, 35, 67, 10.3109/03630269.2010.544624 Kattamis, 2011, Disturbances of biomarkers of iron and oxidant-antioxidant homeostasis in patients with beta-thalassemia intermedia, Pediatr. Endocrinol. Rev., 8, 256 Simsek, 2005, Oxidant and antioxidant status in beta thalassemia major patients, Ankara University Tip Fakultesi Mecmuasi, 58, 34 Pavlova, 2007, Oxidative stress in patients with beta-thalassemia major, Prilozi, 28, 145 Patne, 2012, Alterations in antioxidant enzyme status with lipid peroxidation in thalassemia major patients, Int. J. Pharm. Life Sci., 3, 2003 Bazvand, 2011, Total antioxidant status in patients with major ß-Thalassemia, Iran J. Pediatr., 21, 159 Lü, 2010, Chemical and molecular mechanisms of antioxidants: experimental approaches and model systems, J. Cell Mol. Med., 14, 840, 10.1111/j.1582-4934.2009.00897.x Willcox, 2004, Antioxidants and prevention of chronic disease, Crit. Rev. Food Sci. Nutr., 44, 275, 10.1080/10408690490468489 Ozturk, 2015, Thalassemia major patients using iron chelators showed a reduced plasma thioredoxin level and reduced thioredoxin reductase activity, despite elevated oxidative stress, Free Rad. Res., 49, 309, 10.3109/10715762.2015.1004327 Adly, 2015, Vascular dysfunction in patients with young β-thalassemia: relation to cardiovascular complications and subclinical atherosclerosis, Clin. Appl. Thromb. Hemost., 21, 733, 10.1177/1076029614541515