A novel PITX2c loss-of-function mutation underlies lone atrial fibrillation

International Journal of Molecular Medicine

Volumn 32, Issue 4, 2013, Pages 827-834

  Zhou, Yi Meng ^a,b   Zheng, Peng Xiang ^b   Yang, Yi Qing ^c   Ge, Zhi Ming ^a   Kang, Wei Qiang ^a,d  

^a SHANDONG UNIVERSITY   (China)

^b Tongji University School of Medicine   (China)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

^d QINGDAO MUNICIPAL HOSPITAL   (China)

Author keywords

Atrial fibrillation; Genetics; Pituitary homeobox 2c; Reporter gene; Transcriptional factor

Indexed keywords

AMIODARONE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL BLOCKING AGENT; CHOLESTEROL; DIGOXIN; GENOMIC DNA; GLUCOSE; LUCIFERASE; MUTANT PROTEIN; PITUITARY HOMEOBOX 2C; PROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; WARFARIN;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BODY MASS; CARDIAC PATIENT; CARDIOVERSION; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DIASTOLIC BLOOD PRESSURE; DIET RESTRICTION; EXON; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENETIC CONSERVATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; HEART ATRIUM FIBRILLATION; HEART LEFT VENTRICLE EJECTION FRACTION; HETEROZYGOSITY; HUMAN; INTRON; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR MECHANICS; MORPHOGENESIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PAROXYSMAL HEART ATRIUM FIBRILLATION; PREDICTION; PRIORITY JOURNAL; REPORTER GENE; RESTING HEART RATE; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; SYSTOLIC BLOOD PRESSURE; TRIACYLGLYCEROL BLOOD LEVEL; WILD TYPE;

ADULT; ALLELES; AMINO ACID SEQUENCE; ATRIAL FIBRILLATION; CASE-CONTROL STUDIES; COHORT STUDIES; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE ALIGNMENT; TRANSCRIPTION FACTORS; TRANSCRIPTIONAL ACTIVATION; YOUNG ADULT;

EID: 84883347914     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2013.1463     Document Type: Article

References (58)

1. Fuster V, Rydén LE, Cannom DS, Crijns HJ, Curtis AB, Ellenbogen KA, Halperin JL, Kay GN, Le Huezey JY, Lowe JE, Olsson SB, Prystowsky EN, Tamargo JL, Wann LS, Smith SC Jr, Priori SG, Estes NA III, Ezekowitz MD, Jackman WM, January CT, Lowe JE, Page RL, Slotwiner DJ, Stevenson WG, Tracy CM, Jacobs AK, Anderson JL, Albert N, Buller CE, Creager MA, Ettinger SM, Guyton RA, Halperin JL, Hochman JS, Kushner FG, Ohman EM, Stevenson WG, Tarkington LG and Yancy CW; American College of Cardiology Foundation/American Heart Association Task Force: 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. Circulation 123: e269-e367, 2011.
2. Lloyd-Jones DM, Wang TJ, Leip EP, Larson MG, Levy D, Vasan RS, D'Agostino RB, Massaro JM, Beiser A, Wolf PA and Benjamin EJ: Lifetime risk for development of atrial fibrillation: the Framingham Heart Study. Circulation 110: 1042-1046, 2004.
3. Miyasaka Y, Barnes ME, Gersh BJ, Cha SS, Bailey KR, Abhayaratna WP, Seward JB and Tsang TS: Secular trends in incidence of atrial fibrillation in Olmsted County, Minnesota, 1980 to 2000, and implications on the projections for future prevalence. Circulation 114: 119-125, 2006.
4. Benjamin EJ, Wolf PA, D'Agostino RB, Silbershatz H, Kannel WB and Levy D: Impact of atrial fibrillation on the risk of death: the Framingham Heart Study. Circulation 98: 946-952, 1998.
5. Wolf PA, Abbott RD and Kannel WB: Atrial fibrillation as an independent risk factor for stroke: the Framingham Study. Stroke 22: 983-988, 1991.
6. Wolowacz SE, Samuel M, Brennan VK, Jasso-Mosqueda JG and Van Gelder IC: The cost of illness of atrial fibrillation: a systematic review of the recent literature. Europace 13: 1375-1385, 2011.
7. Darbar D, Herron KJ, Ballew JD, Jahangir A, Gersh BJ, Shen WK, Hammill SC, Packer DL and Olson TM: Familial atrial fibrillation is a genetically heterogeneous disorder. J Am Coll Cardiol 41: 2185-2192, 2003.
8. Ellinor PT, Yoerger DM, Ruskin JN and MacRae CA: Familial aggregation in lone atrial fibrillation. Hum Genet 118: 179-184, 2005.
9. Arnar DO, Thorvaldsson S, Manolio TA, Thorgeirsson G, Kristjansson K, Hakonarson H and Stefansson K: Familial aggregation of atrial fibrillation in Iceland. Eur Heart J 27: 708-712, 2006.
10. Junttila MJ, Raatikainen MJ, Perkiömäki JS, Hong K, Brugada R and Huikuri HV: Familial clustering of lone atrial fibrillation in patients with saddleback-type ST-segment elevation in right precordial leads. Eur Heart J 28: 463-468, 2007.
11. Christophersen IE, Ravn LS, Budtz-Joergensen E, Skytthe A, Haunsoe S, Svendsen JH and Christensen K: Familial aggregation of atrial fibrillation: a study in Danish twins. Circ Arrhythm Electrophysiol 2: 378-383, 2009.
12. Yang YQ, Zhang XL, Wang XH, Tan HW, Shi HF, Fang WY and Liu X: Familial aggregation of lone atrial fibrillation in the Chinese population. Intern Med 49: 2385-2391, 2010.
13. Lubitz SA, Yin X, Fontes JD, Magnani JW, Rienstra M, Pai M, Villalon ML, Vasan RS, Pencina MJ, Levy D, Larson MG, Ellinor PT and Benjamin EJ: Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. JAMA 304: 2263-2269, 2010.
14. Fox CS, Parise H, D'Agostino RB Sr, Lloyd-Jones DM, Vasan RS, Wang TJ, Levy D, Wolf PA and Benjamin EJ: Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. JAMA 291: 2851-2855, 2004.
15. Brugada R, Tapscott T, Czernuszewicz GZ, Marian AJ, Iglesias A, Mont L, Brugada J, Girona J, Domingo A, Bachinski LL and Roberts R: Identification of a genetic locus for familial atrial fibrillation. N Engl J Med 336: 905-911, 1997.
16. Ellinor PT, Shin JT, Moore RK, Yoerger DM and MacRae CA: Locus for atrial fibrillation maps to chromosome 6q14-16. Circulation 107: 2880-2883, 2003.
17. Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J and Huang W: KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299: 251-254, 2003.
18. Oberti C, Wang L, Li L, Dong J, Rao S, Du W and Wang Q: Genome-wide linkage scan identifies a novel genetic locus on chromosome 5p13 for neonatal atrial fibrillation associated with sudden death and variable cardiomyopathy. Circulation 110: 3753-3759, 2004.
19. Zhang X, Chen S, Yoo S, Chakrabarti S, Zhang T, Ke T, Oberti C, Yong SL, Fang F, Li L, de la Fuente R, Wang L, Chen Q and Wang QK: Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 135: 1017-1027, 2008.
20. Volders PG, Zhu Q, Timmermans C, Eurlings PM, Su X, Arens YH, Li L, Jongbloed RJ, Xia M, Rodriguez LM and Chen YH: Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. Heart Rhythm 4: 469-475, 2007.
21. Darbar D, Hardy A, Haines JL and Roden DM: Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. J Am Coll Cardiol 51: 1083-1089, 2008.
22. Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y, Liang B, Lin J, Liu Y, Liu B, Zhou Q, Zhang D, Wang R, Ma N, Su X, Niu K, Pei Y, Xu W, Chen Z, Wan H, Cui J, Barhanin J and Chen Y: Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet 75: 899-905, 2004.
23. Hong K, Bjerregaard P, Gussak I and Brugada R: Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. J Cardiovasc Electrophysiol 16: 394-396, 2005.
24. Xia M, Jin Q, Bendahhou S, He Y, Larroque MM, Chen Y, Zhou Q, Yang Y, Liu Y, Liu B, Zhu Q, Zhou Y, Lin J, Liang B, Li L, Dong X, Pan Z, Wang R, Wan H, Qiu W, Xu W, Eurlings P, Barhanin J and Chen Y: A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun 332: 1012-1019, 2005.
25. Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M, Sattiraju S, Ballew JD, Jahangir A and Terzic A: Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet 15: 2185-2191, 2006.
26. Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ and Anderson JL: Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 293: 447-454, 2005.
27. Li RG, Wang Q, Xu YJ, Zhang M, Qu XK, Liu X, Fang WY and Yang YQ: Mutations of SCN4B-encoded sodium channel ?4 subunit in familial atrial fibrillation. Int J Mol Med 32: 144-150, 2013.
28. Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, Ballew JD, de Andrade M, Burnett JC Jr and Olson TM: Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med 359: 158-165, 2008.
29. Gollob MH, Jones DL, Krahn AD, Danis L, Gong XQ, Shao Q, Liu X, Veinot JP, Tang AS, Stewart AF, Tesson F, Klein GJ, Yee R, Skanes AC, Guiraudon GM, Ebihara L and Bai D: Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med 354: 2677-2688, 2006.
30. Fuster V, Rydén LE, Cannom DS, Crijns HJ, Curtis AB, Ellenbogen KA, Halperin JL, Kay GN, Le Huezey JY, Lowe JE, Olsson SB, Prystowsky EN, Tamargo JL, Wann LS, Smith SC Jr, Priori SG, Estes NA III, Ezekowitz MD, Jackman WM, January CT, Lowe JE, Page RL, Slotwiner DJ, Stevenson WG, Tracy CM, Jacobs AK, Anderson JL, Albert N, Buller CE, Creager MA, Ettinger SM, Guyton RA, Halperin JL, Hochman JS, Kushner FG, Ohman EM, Stevenson WG, Tarkington LG and Yancy CW; American College of Cardiology Foundation/American Heart Association Task Force: 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. Circulation 123: e269-e367, 2011.
31. Lloyd-Jones DM, Wang TJ, Leip EP, Larson MG, Levy D, Vasan RS, D'Agostino RB, Massaro JM, Beiser A, Wolf PA and Benjamin EJ: Lifetime risk for development of atrial fibrillation: the Framingham Heart Study. Circulation 110: 1042-1046, 2004.
32. Miyasaka Y, Barnes ME, Gersh BJ, Cha SS, Bailey KR, Abhayaratna WP, Seward JB and Tsang TS: Secular trends in incidence of atrial fibrillation in Olmsted County, Minnesota, 1980 to 2000, and implications on the projections for future prevalence. Circulation 114: 119-125, 2006.
33. Benjamin EJ, Wolf PA, D'Agostino RB, Silbershatz H, Kannel WB and Levy D: Impact of atrial fibrillation on the risk of death: the Framingham Heart Study. Circulation 98: 946-952, 1998.
34. Wolf PA, Abbott RD and Kannel WB: Atrial fibrillation as an independent risk factor for stroke: the Framingham Study. Stroke 22: 983-988, 1991.
35. Wolowacz SE, Samuel M, Brennan VK, Jasso-Mosqueda JG and Van Gelder IC: The cost of illness of atrial fibrillation: a systematic review of the recent literature. Europace 13: 1375-1385, 2011.
36. Darbar D, Herron KJ, Ballew JD, Jahangir A, Gersh BJ, Shen WK, Hammill SC, Packer DL and Olson TM: Familial atrial fibrillation is a genetically heterogeneous disorder. J Am Coll Cardiol 41: 2185-2192, 2003.
37. Ellinor PT, Yoerger DM, Ruskin JN and MacRae CA: Familial aggregation in lone atrial fibrillation. Hum Genet 118: 179-184, 2005.
38. Arnar DO, Thorvaldsson S, Manolio TA, Thorgeirsson G, Kristjansson K, Hakonarson H and Stefansson K: Familial aggregation of atrial fibrillation in Iceland. Eur Heart J 27: 708-712, 2006.
39. Junttila MJ, Raatikainen MJ, Perkiömäki JS, Hong K, Brugada R and Huikuri HV: Familial clustering of lone atrial fibrillation in patients with saddleback-type ST-segment elevation in right precordial leads. Eur Heart J 28: 463-468, 2007.
40. Christophersen IE, Ravn LS, Budtz-Joergensen E, Skytthe A, Haunsoe S, Svendsen JH and Christensen K: Familial aggregation of atrial fibrillation: a study in Danish twins. Circ Arrhythm Electrophysiol 2: 378-383, 2009.
41. Yang YQ, Zhang XL, Wang XH, Tan HW, Shi HF, Fang WY and Liu X: Familial aggregation of lone atrial fibrillation in the Chinese population. Intern Med 49: 2385-2391, 2010.
42. Lubitz SA, Yin X, Fontes JD, Magnani JW, Rienstra M, Pai M, Villalon ML, Vasan RS, Pencina MJ, Levy D, Larson MG, Ellinor PT and Benjamin EJ: Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. JAMA 304: 2263-2269, 2010.
43. Fox CS, Parise H, D'Agostino RB Sr, Lloyd-Jones DM, Vasan RS, Wang TJ, Levy D, Wolf PA and Benjamin EJ: Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. JAMA 291: 2851-2855, 2004.
44. Brugada R, Tapscott T, Czernuszewicz GZ, Marian AJ, Iglesias A, Mont L, Brugada J, Girona J, Domingo A, Bachinski LL and Roberts R: Identification of a genetic locus for familial atrial fibrillation. N Engl J Med 336: 905-911, 1997.
45. Ellinor PT, Shin JT, Moore RK, Yoerger DM and MacRae CA: Locus for atrial fibrillation maps to chromosome 6q14-16. Circulation 107: 2880-2883, 2003.
46. Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J and Huang W: KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299: 251-254, 2003.
47. Oberti C, Wang L, Li L, Dong J, Rao S, Du W and Wang Q: Genome-wide linkage scan identifies a novel genetic locus on chromosome 5p13 for neonatal atrial fibrillation associated with sudden death and variable cardiomyopathy. Circulation 110: 3753-3759, 2004.
48. Zhang X, Chen S, Yoo S, Chakrabarti S, Zhang T, Ke T, Oberti C, Yong SL, Fang F, Li L, de la Fuente R, Wang L, Chen Q and Wang QK: Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 135: 1017-1027, 2008.
49. Volders PG, Zhu Q, Timmermans C, Eurlings PM, Su X, Arens YH, Li L, Jongbloed RJ, Xia M, Rodriguez LM and Chen YH: Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. Heart Rhythm 4: 469-475, 2007.
50. Darbar D, Hardy A, Haines JL and Roden DM: Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. J Am Coll Cardiol 51: 1083-1089, 2008.
51. Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y, Liang B, Lin J, Liu Y, Liu B, Zhou Q, Zhang D, Wang R, Ma N, Su X, Niu K, Pei Y, Xu W, Chen Z, Wan H, Cui J, Barhanin J and Chen Y: Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet 75: 899-905, 2004.
52. Hong K, Bjerregaard P, Gussak I and Brugada R: Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. J Cardiovasc Electrophysiol 16: 394-396, 2005.
53. Xia M, Jin Q, Bendahhou S, He Y, Larroque MM, Chen Y, Zhou Q, Yang Y, Liu Y, Liu B, Zhu Q, Zhou Y, Lin J, Liang B, Li L, Dong X, Pan Z, Wang R, Wan H, Qiu W, Xu W, Eurlings P, Barhanin J and Chen Y: A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun 332: 1012-1019, 2005.
54. Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M, Sattiraju S, Ballew JD, Jahangir A and Terzic A: Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet 15: 2185-2191, 2006.
55. Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ and Anderson JL: Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 293: 447-454, 2005.
56. Li RG, Wang Q, Xu YJ, Zhang M, Qu XK, Liu X, Fang WY and Yang YQ: Mutations of SCN4B-encoded sodium channel ?4 subunit in familial atrial fibrillation. Int J Mol Med 32: 144-150, 2013.
57. Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, Ballew JD, de Andrade M, Burnett JC Jr and Olson TM: Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med 359: 158-165, 2008.
58. Gollob MH, Jones DL, Krahn AD, Danis L, Gong XQ, Shao Q, Liu X, Veinot JP, Tang AS, Stewart AF, Tesson F, Klein GJ, Yee R, Skanes AC, Guiraudon GM, Ebihara L and Bai D: Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med 354: 2677-2688, 2006.