Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation

Clinics

Volumn 67, Issue 12, 2012, Pages 1393-1399

  Gu, Jian Yun ^a   Xu, Jia Hong ^a   Yu, Hong ^a   Yang, Yi Qing ^b  

^a TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Atrial Fibrillation; GATA5; Genetics; Reporter Gene; Transcriptional Factor

Indexed keywords

GATA5 PROTEIN, HUMAN; LUCIFERASE; TRANSCRIPTION FACTOR GATA 5;

ADULT; AMINO ACID SEQUENCE; ARTICLE; ASIAN; CASE CONTROL STUDY; CHI SQUARE DISTRIBUTION; ETHNOLOGY; FEMALE; GENETICS; HEART ATRIUM FIBRILLATION; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SEQUENCE ALIGNMENT;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; ATRIAL FIBRILLATION; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; DNA MUTATIONAL ANALYSIS; FEMALE; GATA5 TRANSCRIPTION FACTOR; HETEROZYGOTE; HUMANS; LUCIFERASES; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 84872337181     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.6061/clinics/2012(12)08     Document Type: Article

References (35)

1. Camm AJ, Kirchhof P, Lip GY, Schotten U, Savelieva I, Ernst S, et al. Guidelines for the management of atrial fibrillation: the Task Force for the Management of Atrial Fibrillation of the European Society of Cardiology (ESC). Europace. 2010;12(10):1360-420.
2. Lloyd-Jones DM, Wang TJ, Leip EP, Larson MG, Levy D, Vasan RS, et al. Lifetime risk for development of atrial fibrillation: the Framingham Heart Study. Circulation. 2004;110(9):1042-6, http://dx.doi.org/10.1161/01.CIR.0000140263.20897.42.
3. Mansur Ade P, Takada JY, Avakian SD, Strunz CM. Warfarin doses for anticoagulation therapy in elderly patients with chronic atrial fibrillation. Clinics. 2012;67(6):543-6, http://dx.doi.org/10.6061/clinics/2012(06)01.
4. dos Santos AC, Nobre MR, Nussbacher A, Rodrigues GH, Gebara OC, Azul JB, et al. Predictors of the risk of falls among elderly with chronic atrial fibrillation. Clinics. 2012;67(4):305-11, http://dx.doi.org/10.6061/clinics/2012(04)02.
5. Benjamin EJ, Wolf PA, D'Agostino RB, Silbershatz H, Kannel WB, Levy D. Impact of atrial fibrillation on the risk of death: the Framingham Heart Study. Circulation. 1998;989(10):946-52, http://dx.doi.org/10.1161/01. CIR.98.10.946.
6. Wolf PA, Abbott RD, Kannel WB. Atrial fibrillation as an independent risk factor for stroke: the Framingham Study. Stroke. 1991;22(8):983-8, http://dx.doi.org/10.1161/01.STR.22.8.983.
7. Feinberg WM, Seeger JF, Carmody RF, Anderson DC, Hart RG, Pearce LA. Epidemiologic features of asymptomatic cerebral infarction in patients with nonvalvular atrial fibrillation. Arch Intern Med. 1990;150(11):2340-4, http://dx.doi.org/10.1001/archinte.1990.00390220082016.
8. Wolf PA, Dawber TR, Thomas HE Jr, KannelWB. Epidemiologic assessment of chronic atrial fibrillation and risk of stroke: the Framingham study. Neurology. 1978;28(10):973-7, http://dx.doi.org/10.1212/WNL.28.10.973.
9. Wolowacz SE, Samuel M, Brennan VK, Jasso-Mosqueda JG, Van Gelder IC. The cost of illness of atrial fibrillation: a systematic review of the recent literature. Europace. 2011;13(10):1375-85, http://dx.doi.org/10. 1093/europace/eur194.
10. Saritas A, Kandis H, Baltaci D, Erdem I. Paroxysmal atrial fibrillation and intermittent left bundle branch block: an unusual electrocardiographic presentation of mad honey poisoning. Clinics. 2011;66(9):1651-3, http://dx.doi.org/10.1590/S1807-59322011000900025.
11. Armaganijan L, Lopes RD, Healey JS, Piccini JP, Nair GM, Morillo CA. Do omega-3 fatty acids prevent atrial fibrillation after open heart surgery? A meta-analysis of randomized controlled trials. Clinics. 2011;66(11):1923-8.
12. Darbar D, Herron KJ, Ballew JD, Jahangir A, Gersh BJ, Shen WK, et al. Familial atrial fibrillation is a genetically heterogeneous disorder. J Am Coll Cardiol. 2003;41(12):2185-92, http://dx.doi.org/10.1016/S0735-1097(03)00465-0.
13. Yang YQ, Zhang XL, Wang XH, Tan HW, Shi HF, Fang WY, et al. Familial aggregation of lone atrial fibrillation in the Chinese population. Intern Med. 2010;49(22):2385-91, http://dx.doi.org/10.2169/internalmedicine.49.4130.
14. Lubitz SA, Yin X, Fontes JD, Magnani JW, Rienstra M, Pai M, et al. Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. JAMA. 2010;304(20):2263-9, http://dx.doi.org/10. 1001/jama.2010.1690.
15. Fox CS, Parise H, D'Agostino Sr RB, Lloyd-Jones DM, Vasan RS, Wang TJ, et al. Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. JAMA. 2004;291(23):2851-5, http://dx.doi.org/10.1001/jama. 291.23.2851.
16. Mahida S, Lubitz SA, Rienstra M, Milan DJ, Ellinor PT. Monogenic atrial fibrillation as pathophysiological paradigms. Cardiovasc Res. 2011;89(4):692-700, http://dx.doi.org/10.1093/cvr/cvq381.
17. Mommersteeg MT, Christoffels VM, Anderson RH, Moorman AF. Atrial fibrillation: a developmental point of view. Heart Rhythm. 2009;6(12):1818-24, http://dx.doi.org/10.1016/j.hrthm.2009.07.011.
18. Pikkarainen S, Tokola H, Kerkelä R, Ruskoaho H. GATA transcription factors in the developing and adult heart. Cardiovasc Res. 2004;63(2):196-207, http://dx.doi.org/10.1016/j.cardiores.2004.03.025.
19. Boldt LH, Posch MG, Perrot A, Polotzki M, Rolf S, Parwani AS, et al. Mutational analysis of the PITX2 and NKX2-5 genes in patients with idiopathic atrial fibrillation. Int J Cardiol. 2010;145(2):316-7, http://dx. doi.org/10.1016/j.ijcard.2009.11.023.
20. Posch MG, Boldt LH, Polotzki M, Richter S, Rolf S, Perrot A, et al. Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation. Eur J Med Genet. 2010;53(4):201-3, http://dx.doi. org/10.1016/j.ejmg.2010.03.008.
21. Yang YQ, Wang MY, Zhang XL, Tan HW, Shi HF, Jiang WF, et al. GATA4 loss-of-function mutations in familial atrial fibrillation. Clin Chim Acta. 2011;412(19-20):1825-30, http://dx.doi.org/10.1016/j.cca. 2011.06.017.
22. Jiang JQ, Shen FF, Fang WY, Liu X, Yang YQ. Novel GATA4 mutations in lone atrial fibrillation. Int J Mol Med. 2011;28(6):1025-32.
23. Wang J, Sun YM, Yang YQ. Mutation spectrum of the GATA4 gene in patients with idiopathic atrial fibrillation. Mol Biol Rep. 2012;39(8):8127-35, http://dx.doi.org/10.1007/s11033-012-1660-6.
24. Yang YQ, Wang XH, Tan HW, Jiang WF, Fang WY, Liu Xu. Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. Int J Cardiol. 2012;155(3):494-6, http://dx.doi.org/10.1016/j. ijcard.2011.12.091.
25. Zhang Y, Rath N, Hannenhalli S, Wang Z, Cappola T, Kimura S, et al. GATA and Nkx factors synergistically regulate tissue-specific gene expression and development in vivo. Development. 2007;134(1):189-98, http://dx.doi.org/10.1242/dev.02720.
26. Yang YQ, Wang J, Wang XH, Wang Q, Tan HW, Zhang M, et al. Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. Int J Cardiol. 2012;157(2):305-7, http://dx.doi.org/10.1016/j. ijcard.2012.03.132.
27. Nemer G, Qureshi ST, Malo D, Nemer M. Functional analysis and chromosomal mapping of Gata5, a gene encoding a zinc finger DNAbinding protein. Mamm Genome. 1999;10(10):993-9, http://dx.doi.org/10.1007/s003359901146.
28. Haïssaguerre M, Jaïs P, Shah DC, Takahashi A, Hocini M, Quiniou G, et al. Spontaneous initiation of atrial fibrillation by ectopic beats originating in the pulmonary veins. N Engl J Med. 1998;339(10):659-66, http://dx.doi.org/10.1056/NEJM199809033391003.
29. Bittner A, Mönnig G, Vagt AJ, Zellerhoff S, Wasmer K, Köbe J, et al. Pulmonary vein variants predispose to atrial fibrillation: a case-control study using multislice contrast-enhanced computed tomography. Europace. 2011;13(10):1394-400, http://dx.doi.org/10.1093/europace/eur145.
30. Mommersteeg MT, Brown NA, Prall OW, de Gier-de Vries C, Harvey RP, Moorman AF, et al. Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium. Circ Res. 2007;101(9):902-9, http://dx.doi.org/10.1161/CIRCRESAHA.107.161182.
31. Mommersteeg MT, Hoogaars WM, Prall OW, de Gier-de Vries C, Wiese C, Clout DE, et al. Molecular pathway for the localized formation of the sinoatrial node. Circ Res. 2007;100(3):354-62, http://dx.doi.org/10.1161/01.RES.0000258019.74591.b3.
32. Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC. Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet. 2002;39(11):807-11, http://dx.doi.org/10.1136/jmg.39.11.807.
33. Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG, et al. A novel CSX/NKX2-5 mutation causes autosomaldominant AV block: are atrial fibrillation and syncopes part of the phenotype? Eur J Hum Genet. 2006;14(12):1313-6, http://dx.doi.org/10. 1038/sj.ejhg.5201702.
34. Pabst S, Wollnik B, Rohmann E, Hintz Y, Glänzer K, Vetter H, et al. A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease. Clin Res Cardiol. 2008;97(1):39-42, http://dx. doi.org/10.1007/s00392-007-0574-0.
35. Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, et al. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med. 2008;359(2):158-65, http://dx. doi.org/10.1056/NEJMoa0706300.