The role of transcription factors in atrial fibrillation

Journal of Thoracic Disease

Volumn 7, Issue 2, 2015, Pages 152-158

  Zhou, Mengchen ^a,b   Liao, Yuhua ^b   Tu, Xin ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

Atrial fibrillation (AF); NKX2.5; PITX2; PRRX1; TBX5; Transcription factors; ZFHX3

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR PITX2; TRANSCRIPTION FACTOR PRRX1; TRANSCRIPTION FACTOR TBX5; TRANSCRIPTION FACTOR ZHFX3; UNCLASSIFIED DRUG;

GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HEART ATRIUM FIBRILLATION; HUMAN; NKX2.5 GENE; NONHUMAN; PITX2 GENE; PRRX1 GENE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TBX5 GENE; ZFHX3 GENE;

EID: 84922278143     PISSN: 20721439     EISSN: 20776624     Source Type: Journal    
DOI: 10.3978/j.issn.2072-1439.2015.01.21     Document Type: Review

References (89)

1. Ferguson C, Inglis SC, Newton PJ, et al. Atrial fibrillation: stroke prevention in focus. Aust Crit Care 2014;27:92-8.
2. Fuster V, Rydén LE, Cannom DS, et al. 2011 ACCF/AHA/HRS focused updates incorporated into the ACC/AHA/ESC 2006 Guidelines for the management of patients with atrial fibrillation: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines developed in partnership with the European Society of Cardiology and in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. J Am Coll Cardiol 2011;57:e101-98.
3. Zhou Z, Hu D. An epidemiological study on the prevalence of atrial fibrillation in the Chinese population of mainland China. J Epidemiol 2008;18:209-16.
4. Hu D, Sun Y. Epidemiology, risk factors for stroke, and management of atrial fibrillation in China. J Am Coll Cardiol 2008;52:865-8.
5. Miyasaka Y, Barnes ME, Gersh BJ, et al. Secular trends in incidence of atrial fibrillation in Olmsted County, Minnesota, 1980 to 2000, and implications on the projections for future prevalence. Circulation 2006;114:119-25.
6. Schoonderwoerd BA, Smit MD, Pen L, et al. New risk factors for atrial fibrillation: causes of 'not-so-lone atrial fibrillation'. Europace 2008;10:668-73.
7. Benjamin EJ, Levy D, Vaziri SM, et al. Independent risk factors for atrial fibrillation in a population-based cohort. The Framingham Heart Study. JAMA 1994;271:840-4.
8. Lubitz SA, Yin X, Fontes JD, et al. Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. JAMA 2010;304:2263-9.
9. Tsai CT, Lai LP, Hwang JJ, et al. Molecular genetics of atrial fibrillation. J Am Coll Cardiol 2008;52:241-50.
10. Hong K, Xiong Q. Genetic basis of atrial fibrillation. Curr Opin Cardiol 2014;29:220-6.
11. Lubitz SA, Ellinor PT. Personalized medicine and atrial fibrillation: will it ever happen? BMC Med 2012;10:155.
12. Gudbjartsson DF, Arnar DO, Helgadottir A, et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 2007;448:353-7.
13. Viviani Anselmi C, Novelli V, Roncarati R, et al. Association of rs2200733 at 4q25 with atrial flutter/fibrillation diseases in an Italian population. Heart 2008;94:1394-6.
14. Kiliszek M, Franaszczyk M, Kozluk E, et al. Association between variants on chromosome 4q25, 16q22 and 1q21 and atrial fibrillation in the Polish population. PLoS One 2011;6:e21790.
15. Shi L, Li C, Wang C, et al. Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population. Hum Genet 2009;126:843-9.
16. Parvez B, Vaglio J, Rowan S, et al. Symptomatic response to antiarrhythmic drug therapy is modulated by a common single nucleotide polymorphism in atrial fibrillation. J Am Coll Cardiol 2012;60:539-45.
17. Parvez B, Shoemaker MB, Muhammad R, et al. Common genetic polymorphism at 4q25 locus predicts atrial fibrillation recurrence after successful cardioversion. Heart Rhythm 2013;10:849-55.
18. Husser D, Adams V, Piorkowski C, et al. Chromosome 4q25 variants and atrial fibrillation recurrence after catheter ablation. J Am Coll Cardiol 2010;55:747-53.
19. Benjamin Shoemaker M, Muhammad R, Parvez B, et al. Common atrial fibrillation risk alleles at 4q25 predict recurrence after catheter-based atrial fibrillation ablation. Heart Rhythm 2013;10:394-400.
20. Gore-Panter SR, Hsu J, Hanna P, et al. Atrial Fibrillation associated chromosome 4q25 variants are not associated with PITX2c expression in human adult left atrial appendages. PLoS One 2014;9:e86245.
21. Mahida S, Ellinor PT. New advances in the genetic basis of atrial fibrillation. J Cardiovasc Electrophysiol 2012;23:1400-6.
22. Logan M, Pagán-Westphal SM, Smith DM, et al. The transcription factor PITX2 mediates situs-specific morphogenesis in response to left-right asymmetric signals. Cell 1998;94:307-17.
23. Piedra ME, Icardo JM, Albajar M, et al. PITX2 participates in the late phase of the pathway controlling left-right asymmetry. Cell 1998;94:319-24.
24. Campione M, Steinbeisser H, Schweickert A, et al. The homeobox gene PITX2: mediator of asymmetric left-right signaling in vertebrate heart and gut looping. Development 1999;126:1225-34.
25. Tessari A, Pietrobon M, Notte A, et al. Myocardial PITX2 differentially regulates the left atrial identity and ventricular asymmetric remodeling programs. Circ Res 2008;102:813-22.
26. Kirchhof P, Kahr PC, Kaese S, et al. PITX2c is expressed in the adult left atrium, and reducing PITX2c expression promotes atrial fibrillation inducibility and complex changes in gene expression. Circ Cardiovasc Genet 2011;4:123-33.
27. Wang J, Klysik E, Sood S, et al. PITX2 prevents susceptibility to atrial arrhythmias by inhibiting leftsided pacemaker specification. Proc Natl Acad Sci U S A 2010;107:9753-8.
28. Espinoza-Lewis RA, Yu L, He F, et al. Shox2 is essential for the differentiation of cardiac pacemaker cells by repressing Nkx2.5. Dev Biol 2009;327:376-85.
29. Blaschke RJ, Hahurij ND, Kuijper S, et al. Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development. Circulation 2007;115:1830-8.
30. Hoogaars WM, Engel A, Brons JF, et al. Tbx3 controls the sinoatrial node gene program and imposes pacemaker function on the atria. Genes Dev 2007;21:1098-112.
31. Wiese C, Grieskamp T, Airik R, et al. Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3. Circ Res 2009;104:388-97.
32. Harzheim D, Pfeiffer KH, Fabritz L, et al. Cardiac pacemaker function of HCN4 channels in mice is confined to embryonic development and requires cyclic AMP. EMBO J 2008;27:692-703.
33. Herrmann S, Stieber J, Stöckl G, et al. HCN4 provides a 'depolarization reserve' and is not required for heart rate acceleration in mice. EMBO J 2007;26:4423-32.
34. Hodgson-Zingman DM, Karst ML, Zingman LV, et al. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med 2008;359:158-65.
35. Ganga M, Espinoza HM, Cox CJ, et al. PITX2 isoform specific regulation of atrial natriuretic factor expression: synergism and repression with Nkx2.5. J Biol Chem 2003;278:22437-45.
36. Chen YH, Xu SJ, Bendahhou S, et al. KCNQ1 gain-offunction mutation in familial atrial fibrillation. Science 2003;299:251-4.
37. Abraham RL, Yang T, Blair M, et al. Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. J Mol Cell Cardiol 2010;48:181-90.
38. Tao Y, Zhang M, Li L, et al. PITX2, an atrial fibrillation predisposition gene, directly regulates ion transport and intercalated disc genes. Circ Cardiovasc Genet 2014;7:23-32.
39. Wang J, Bai Y, Li N, et al. PITX2-microRNA pathway that delimits sinoatrial node development and inhibits predisposition to atrial fibrillation. Proc Natl Acad Sci U S A 2014;111:9181-6.
40. Ellinor PT, Lunetta KL, Albert CM, et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet 2012;44:670-5.
41. Lin H, Sinner MF, Brody JA, et al. Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm 2014;11:452-7.
42. Bergwerff M, Gittenberger-de Groot AC, DeRuiter MC, Patterns of paired-related homeobox genes PRX1 and PRX2 suggest involvement in matrix modulation in the developing chick vascular system. Dev Dyn 1998;213:59-70.
43. Cserjesi P, Lilly B, Bryson L, et al. MHox: a mesodermally restricted homeodomain protein that binds an essential site in the muscle creatine kinase enhancer. Development 1992;115:1087-101.
44. Grueneberg DA, Natesan S, Alexandre C, et al. Human and Drosophila homeodomain proteins that enhance the DNA-binding activity of serum response factor. Science 1992;257:1089-95.
45. Duprey P, Lesens C. Control of skeletal muscle-specific transcription: involvement of paired homeodomain and MADS domain transcription factors. Int J Dev Biol 1994;38:591-604.
46. Hautmann MB, Thompson MM, Swartz EA, et al. Angiotensin II-induced stimulation of smooth muscle alpha-actin expression by serum response factor and the homeodomain transcription factor MHox. Circ Res 1997;81:600-10.
47. Olson EN, Perry M, Schulz RA. Regulation of muscle differentiation by the MEF2 family of MADS box transcription factors. Dev Biol 1995;172:2-14.
48. Ihida-Stansbury K, McKean DM, Gebb SA, et al. Paired related homeobox gene Prx1 is required for pulmonary vascular development. Circ Res 2004;94:1507-14.
49. Leussink B, Brouwer A, el Khattabi M, et al. Expression patterns of the paired-related homeobox genes MHox/Prx1 and S8/Prx2 suggest roles in development of the heart and the forebrain. Mech Dev 1995;52:51-64.
50. Bergwerff M, Gittenberger-de Groot AC, Wisse LJ, et al. Loss of function of the Prx1 and Prx2 homeobox genes alters architecture of the great elastic arteries and ductus arteriosus. Virchows Arch 2000;436:12-9.
51. Haïssaguerre M, Jaïs P, Shah DC, et al. Spontaneous initiation of atrial fibrillation by ectopic beats originating in the pulmonary veins. N Engl J Med 1998;339:659-66.
52. Bittner A, Mönnig G, Vagt AJ, et al. Pulmonary vein variants predispose to atrial fibrillation: a case-control study using multislice contrast-enhanced computed tomography. Europace 2011;13:1394-400.
53. Po SS, Li Y, Tang D, et al. Rapid and stable re-entry within the pulmonary vein as a mechanism initiating paroxysmal atrial fibrillation. J Am Coll Cardiol 2005;45:1871-7.
54. Weiss C, Gocht A, Willems S, et al. Impact of the distribution and structure of myocardium in the pulmonary veins for radiofrequency ablation of atrial fibrillation. Pacing Clin Electrophysiol 2002;25:1352-6.
55. Gudbjartsson DF, Holm H, Gretarsdottir S, et al. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet 2009;41:876-8.
56. Liu Y, Ni B, Lin Y, et al. Genetic polymorphisms in ZFHX3 are associated with atrial fibrillation in a Chinese Han population. PLoS One 2014;9:e101318.
57. Li C, Wang F, Yang Y, et al. Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population. Hum Genet 2011;129:239-46.
58. Smith JG, Melander O, Sjögren M, et al. Genetic polymorphisms confer risk of atrial fibrillation in patients with heart failure: a population-based study. Eur J Heart Fail 2013;15:250-7.
59. Tsai CT, Hsieh CS, Chang SN, et al. Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation. J Med Genet 2015;52:28-36.
60. Nojiri S, Joh T, Miura Y, et al. ATBF1 enhances the suppression of STAT3 signaling by interaction with PIAS3. Biochem Biophys Res Commun 2004;314:97-103.
61. Chung CD, Liao J, Liu B, et al. Specific inhibition of Stat3 signal transduction by PIAS3. Science 1997;278:1803-5.
62. Tsai CT, Lin JL, Lai LP, et al. Membrane translocation of small GTPase Rac1 and activation of STAT1 and STAT3 in pacing-induced sustained atrial fibrillation. Heart Rhythm 2008;5:1285-93.
63. Aviles RJ, Martin DO, Apperson-Hansen C, et al. Inflammation as a risk factor for atrial fibrillation. Circulation 2003;108:3006-10.
64. Jiang Q, Ni B, Shi J, et al. Down-regulation of ATBF1 activates STAT3 signaling via PIAS3 in pacing-induced HL-1 atrial myocytes. Biochem Biophys Res Commun 2014;449:278-83.
65. Sun X, Li J, Dong FN, et al. Characterization of nuclear localization and SUMOylation of the ATBF1 transcription factor in epithelial cells. PLoS One 2014;9:e92746.
66. Maejima Y, Sadoshima J. SUMOylation: a novel protein quality control modifier in the heart. Circ Res 2014;115:686-9.
67. Holm H, Gudbjartsson DF, Arnar DO, et al. Several common variants modulate heart rate, PR interval and QRS duration. Nat Genet 2010;42:117-22.
68. Sinner MF, Tucker NR, Lunetta KL, et al. Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation. Circulation 2014;130:1225-35.
69. Zang X, Zhang S, Xia Y, et al. SNP rs3825214 in TBX5 is associated with lone atrial fibrillation in Chinese Han population. PLoS One 2013;8:e64966.
70. Tan N, Chung MK, Smith JD, et al. Weighted gene coexpression network analysis of human left atrial tissue identifies gene modules associated with atrial fibrillation. Circ Cardiovasc Genet 2013;6:362-71.
71. Naiche LA, Harrelson Z, Kelly RG, et al. T-box genes in vertebrate development. Annu Rev Genet 2005;39:219-39.
72. Li QY, Newbury-Ecob RA, Terrett JA, et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 1997;15:21-9.
73. Boogerd CJ, Dooijes D, Ilgun A, et al. Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res 2010;88:130-9.
74. Postma AV, van de Meerakker JB, Mathijssen IB, et al. A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ Res 2008;102:1433-42.
75. Hiroi Y, Kudoh S, Monzen K, et al. Tbx5 associates with Nkx2.5 and synergistically promotes cardiomyocyte differentiation. Nat Genet 2001;28:276-80.
76. Fijnvandraat AC, Lekanne Deprez RH, Christoffels VM, et al. TBX5 overexpression stimulates differentiation of chamber myocardium in P19C16 embryonic carcinoma cells. J Muscle Res Cell Motil 2003;24:211-8.
77. Bruneau BG, Nemer G, Schmitt JP, et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 2001;106:709-21.
78. Gutierrez-Roelens I, De Roy L, Ovaert C, et al. A novel CSX/NKX2.5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? Eur J Hum Genet 2006;14:1313-6.
79. Huang RT, Xue S, Xu YJ, et al. A novel NKX2.5 loss-offunction mutation responsible for familial atrial fibrillation. Int J Mol Med 2013;31:1119-26.
80. Yu H, Xu JH, Song HM, et al. Mutational spectrum of the NKX2.5 gene in patients with lone atrial fibrillation. Int J Med Sci 2014;11:554-63.
81. Xie WH, Chang C, Xu YJ, et al. Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation. Clinics (Sao Paulo) 2013;68:777-84.
82. Jay PY, Harris BS, Buerger A, et al. Function follows form: cardiac conduction system defects in Nkx2.5 mutation. Anat Rec A Discov Mol Cell Evol Biol 2004;280:966-72.
83. Ouyang P, Saarel E, Bai Y, et al. A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death. Clin Chim Acta 2011;412:170-5.
84. Xie WH, Chang C, Xu YJ, et al. Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation. Clinics (Sao Paulo) 2013;68:777-84.
85. Pfeufer A, van Noord C, Marciante KD, et al. Genomewide association study of PR interval. Nat Genet 2010;42:153-9.
86. Cheng S, Keyes MJ, Larson MG, et al. Longterm outcomes in individuals with prolonged PR interval or first-degree atrioventricular block. JAMA 2009;301:2571-7.
87. Kasahara H, Wakimoto H, Liu M, et al. Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein. J Clin Invest 2001;108:189-201.
88. Mommersteeg MT, Brown NA, Prall OW, et al. PITX2c and Nkx2.5 are required for the formation and identity of the pulmonary myocardium. Circ Res 2007;101:902-9.
89. Shiratori H, Sakuma R, Watanabe M, et al. Two-step regulation of left-right asymmetric expression of PITX2: initiation by nodal signaling and maintenance by Nkx2. Mol Cell 2001;7:137-49.