Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population

The Scientific World Journal

Volumn 2013, Issue , 2013, Pages

  Chu, Hui Min ^a   Feng, Ming Jun ^a   Li, Yi Gang ^b   Zhang, Yi Xin ^c   Ma, Ji Fang ^b   He, Bin ^a   Yu, Yi Bo ^a   Liu, Jing ^a   Chen, Xiao Min ^a  

^a NINGBO UNIVERSITY   (China)

^b XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c PEKING UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; POTASSIUM CHANNEL KCNQ1; KCNQ1 PROTEIN, HUMAN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADULT; ARTICLE; BLOOD SAMPLING; CHINESE; CONTROLLED STUDY; DNA ISOLATION; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEART ATRIUM FIBRILLATION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MISSENSE SUBSTITUTION; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; CHINA; ETHNOLOGY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; METHODOLOGY; MIDDLE AGED; MUTATION; PREVALENCE; RISK FACTOR;

ATRIAL FIBRILLATION; CHINA; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KCNQ1 POTASSIUM CHANNEL; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; RISK FACTORS;

EID: 84877287183     PISSN: None     EISSN: 1537744X     Source Type: Journal    
DOI: 10.1155/2013/373454     Document Type: Article

References (24)

1. Frost L., Engholm G., Johnsen S., Møller H., Husted S., Incident stroke after discharge from the hospital with a diagnosis of atrial fibrillation. American Journal of Medicine 2000 108 1 36 40 2-s2.0-0033966190 10.1016/S0002-9343(99)00415-5 (Pubitemid 30058276)
2. Grogan M., Smith H. C., Gersh B. J., Wood D. L., Left ventricular dysfunction due to atrial fibrillation in patients initially believed to have idiopathic dilated cardiomyopathy. American Journal of Cardiology 1992 69 19 1570 1573 2-s2.0-0026718636 10.1016/0002-9149(92)90705-4
3. Chen Y. H., Xu S. J., Bendahhou S., Wang X. L., Wang Y., Xu W. Y., Jin H. W., Sun H., Su X. Y., Zhuang Q. N., Yang Y. Q., Li Y. B., Liu Y., Xu H. J., Li X. F., Ma N., Mou C. P., Chen Z., Barhanin J., Huang W., KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 2003 299 5604 251 254 2-s2.0-0037428218 10.1126/science.1077771 (Pubitemid 36125211)
4. Wang Q., Curran M. E., Splawski I., Burn T. C., Millholland J. M., VanRaay T. J., Shen J., Timothy K. W., Vincent G. M., De Jager T., Schwartz P. J., Towbin J. A., Moss A. J., Atkinson D. L., Landes G. M., Connors T. D., Keating M. T., Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genetics 1996 12 1 17 23 2-s2.0-9044240040 10.1038/ng0196-17 (Pubitemid 26011314)
5. 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., Chen Y., Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. American Journal of Human Genetics 2004 75 5 899 905 2-s2.0-6344292572 10.1086/425342 (Pubitemid 39390498)
6. Lundby A., Ravn L. S., Svendsen J. H., Haunsø S., Olesen S. P., Schmitt N., KCNE3 mutation V17M identified in a patient with lone atrial fibrillation. Cellular Physiology and Biochemistry 2008 21 1-3 47 54 2-s2.0-38349152549 10.1159/000113746
7. Olson T. M., Alekseev A. E., Liu X. K., Park S., Zingman L. V., Bienengraeber M., Sattiraju S., Ballew J. D., Jahangir A., Terzic A., Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Human Molecular Genetics 2006 15 14 2185 2191 2-s2.0-33745635351 10.1093/hmg/ddl143 (Pubitemid 43985509)
8. Calloe K., Ravn L. S., Schmitt N., Sui J. L., Duno M., Haunso S., Grunnet M., Svendsen J. H., Olesen S. P., Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit. Biochemical and Biophysical Research Communications 2007 364 4 889 895 2-s2.0-36148968073 10.1016/j.bbrc.2007.10.106 (Pubitemid 350103698)
9. Lundby A., Ravn L. S., Svendsen J. H., Olesen S. P., Schmitt N., KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval. Heart Rhythm 2007 4 12 1532 1541 2-s2.0-36549055058 10.1016/j.hrthm.2007.07.022 (Pubitemid 350187683)
10. Bartos D. C., Duchatelet S., Burgess D. E., Klug D., Denjoy I., Peat R., Lupoglazoff J. M., Fressart V., Berthet M., Ackerman M. J., January C. T., Guicheney P., Delisle B. P., R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. Heart Rhythm 2011 8 1 48 55 2-s2.0-78650665141 10.1016/j.hrthm.2010.09.010
11. Das S., Makino S., Melman Y. F., Shea M. A., Goyal S. B., Rosenzweig A., MacRae C. A., Ellinor P. T., Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation. Heart Rhythm 2009 6 8 1146 1153 2-s2.0-67650738504 10.1016/j.hrthm.2009.04.015
12. Ravn L. S., Aizawa Y., Pollevick G. D., Hofman-Bang J., Cordeiro J. M., Dixen U., Jensen G., Wu Y., Burashnikov E., Haunso S., Guerchicoff A., Hu D., Svendsen J. H., Christiansen M., Antzelevitch C., Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation. Heart Rhythm 2008 5 3 427 435 2-s2.0-39649099974 10.1016/j.hrthm.2007.12.019
13. Fatini C., Sticchi E., Genuardi M., Sofi F., Gensini F., Gori A. M., Lenti M., Michelucci A., Abbate R., Gensini G. F., Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation. European Heart Journal 2006 27 14 1712 1718 2-s2.0-33745801021 10.1093/eurheartj/ehl087 (Pubitemid 44026432)
14. Abraham R. L., Yang T., Blair M., Roden D. M., Darbar D., Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. Journal of Molecular and Cellular Cardiology 2010 48 1 181 190 2-s2.0-73049088536 10.1016/j.yjmcc.2009.07.020
15. Ren X., Xu C., Zhan C., Yang Y., Shi L., Wang F., Wang C., Xia Y., Yang B., Wu G., Wang P., Li X., Wang D., Xiong X., Liu J., Liu Y., Liu M., Liu J., Tu X., Wang Q. K., Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population. Clinica Chimica Acta 2010 411 7-8 481 485 2-s2.0-77649181877 10.1016/j.cca.2009.12.019
16. Brauch K. M., Chen L. Y., Olson T. M., Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation. American Journal of Cardiology 2009 103 10 1426 1428 2-s2.0-65449138689 10.1016/j.amjcard.2009.01. 354
17. Hodgson-Zingman D. M., Karst M. L., Zingman L. V., Heublein D. M., Darbar D., Herron K. J., Ballew J. D., De Andrade M., Burnett J. C., Olson T. M., Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. New England Journal of Medicine 2008 359 2 158 165 2-s2.0-46949093558 10.1056/NEJMoa0706300 (Pubitemid 351962039)
18. Makiyama T., Akao M., Shizuta S., Doi T., Nishiyama K., Oka Y., Ohno S., Nishio Y., Tsuji K., Itoh H., Kimura T., Kita T., Horie M., A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. Journal of the American College of Cardiology 2008 52 16 1326 1334 2-s2.0-53049092597 10.1016/j.jacc.2008.07.013
19. Shi L., Li C., Wang C., Xia Y., Wu G., Wang F., Xu C., Wang P., Li X., Wang D., Xiong X., Bai Y., Liu M., Liu J., Ren X., Gao L., Wang B., Zeng Q., Yang B., Ma X., Yang Y., Tu X., Wang Q. K., Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population. Human Genetics 2009 126 6 843 849 2-s2.0-71449120890 10.1007/s00439-009-0737-3
20. Ellinor P. T., Lunetta K. L., Glazer N. L., Pfeufer A., Chung M. K., Sinner M. F., De Bakker P. I. W., Mueller M., Lubitz S. A., Fox E., Darbar D., Smith N. L., Smith J. D., Schnabel R. B., Soliman E. Z., Rice K. M., Van Wagoner D. R., Beckmann B.-M., Van Noord C., Wang K., Ehret G. B., Hazen S. L., Steinbeck G., Smith A. V., Launer L. J., Harris T. B., Makino S., Nelis M., Milan D. J., Perz S., Esko T., Köttgen A., Moebus S., Newton-Cheh C., Li M., Möhlenkamp S., Wang T. J., Vasan R. S., Nöthen M. M., MacRae C. A., Ch Stricker B. H., Hofman A., Uitterlinden A. G., Levy D., Boerwinkle E., Metspalu A., Topol E. J., Chakravarti A., Gudnason V., Psaty B. M., Roden D. M., Meitinger T., Witteman J. C. M., Barnard J., Arking D. E., Benjamin E. J., Heckbert S. R., Kääb S., Common variants in KCNN3 are associated with lone atrial fibrillation. Nature Genetics 2010 42 3 240 244 10.1038/ng.537
21. Zhang C., Yuan G. H., Cheng Z. F., Xu M. W., Hou L. F., Wei F. P., The single nucleotide polymorphisms of Kir3.4 gene and their correlation with lone paroxysmal atrial fibrillation in Chinese Han population. Heart Lung and Circulation 2009 18 4 257 261 2-s2.0-67651068787 10.1016/j.hlc.2008.12.002
22. Zeng Z., Tan C., Teng S., Chen J., Su S., Zhou X., Wang F., Zhang S., Gu D., Makielski J. C., Pu J., The single nucleotide polymorphisms of IKs potassium channel genes and their association with atrial fibrillation in a Chinese population. Cardiology 2007 108 2 97 103 2-s2.0-34247159109 10.1159/000095943 (Pubitemid 47295568)
23. Chen L. Y., Ballew J. D., Herron K. J., Rodeheffer R. J., Olson T. M., A common polymorphism in SCN5A is associated with lone atrial fibrillation. Clinical Pharmacology and Therapeutics 2007 81 1 35 41 2-s2.0-33845983622 10.1038/sj.clpt.6100016 (Pubitemid 46050865)
24. Ellinor P. T., Petrov-Kondratov V. I., Zakharova E., Nam E. G., MacRae C. A., Potassium channel gene mutations rarely cause atrial fibrillation. BMC Medical Genetics 2006 7, article 70 2-s2.0-33748367260 10.1186/1471-2350-7-70 (Pubitemid 44336327)