KCNE1 D85N polymorphism - a sex-specific modifier in type 1 long QT syndrome?

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Lahtinen, Annukka M ^a   Marjamaa, Annukka ^a   Swan, Heikki ^a   Kontula, Kimmo ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNQ1; KCNE1 PROTEIN, HUMAN; POTASSIUM CHANNEL; VOLTAGE GATED POTASSIUM CHANNEL;

ADULT; ARTICLE; DISEASE SEVERITY; DNA POLYMORPHISM; FEMALE; GENOTYPE; HEART RATE; HUMAN; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; QT PROLONGATION; CHILD; COHORT ANALYSIS; COMPARATIVE STUDY; ELECTROCARDIOGRAPHY; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETICS; HEART ARRHYTHMIA; HETEROZYGOTE; HOMOZYGOTE; HOSPITALIZATION; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; SEX DIFFERENCE; SEXUAL DEVELOPMENT; STATISTICAL MODEL;

ADRENERGIC BETA-ANTAGONISTS; ARRHYTHMIAS, CARDIAC; CHILD; COHORT STUDIES; ELECTROCARDIOGRAPHY; FEMALE; GENETIC TESTING; GENOTYPE; HEART RATE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LINEAR MODELS; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEVERITY OF ILLNESS INDEX; SEX CHARACTERISTICS; SEX FACTORS;

EID: 78651455611     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-11     Document Type: Article

References (30)

1. Morita H, Wu J, Zipes DP. The QT syndromes: long and short. Lancet 2008, 372:750-763. 10.1016/S0140-6736(08)61307-0, 18761222.
2. Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M. The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat 2009, 30:1486-1511. 10.1002/humu.21106, 19862833.
3. Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G. K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 1996, 384:78-80. 10.1038/384078a0, 8900282.
4. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, Keating MT. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 1996, 384:80-83. 10.1038/384080a0, 8900283.
5. McDonald TV, Yu Z, Ming Z, Palma E, Meyers MB, Wang KW, Goldstein SA, Fishman GI. A minK-HERG complex regulates the cardiac potassium current I(Kr). Nature 1997, 388:289-292. 10.1038/40882, 9230439.
6. Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet 1997, 17:338-340. 10.1038/ng1197-338, 9354802.
7. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000, 102:1178-1185.
8. Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J, Aslaksen B, Sørland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997, 6:2179-2185. 10.1093/hmg/6.12.2179, 9328483.
9. Tesson F, Donger C, Denjoy I, Berthet M, Bennaceur M, Petit C, Coumel P, Schwarts K, Guicheney P. Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. J Mol Cell Cardiol 1996, 28:2051-2055. 10.1006/jmcc.1996.0198, 8899564.
10. Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC. Compound mutations: a common cause of severe long-QT syndrome. Circulation 2004, 109:1834-1841. 10.1161/01.CIR.0000125524.34234.13, 15051636.
11. Nishio Y, Makiyama T, Itoh H, Sakaguchi T, Ohno S, Gong YZ, Yamamoto S, Ozawa T, Ding WG, Toyoda F, Kawamura M, Akao M, Matsuura H, Kimura T, Kita T, Horie M. D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol 2009, 54:812-819. 10.1016/j.jacc.2009.06.005, 19695459.
12. Marjamaa A, Newton-Cheh C, Porthan K, Reunanen A, Lahermo P, Väänänen H, Jula A, Karanko H, Swan H, Toivonen L, Nieminen MS, Viitasalo M, Peltonen L, Oikarinen L, Palotie A, Kontula K, Salomaa V. Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med 2009, 265:448-458. 10.1111/j.1365-2796.2008.02026.x, 2668713, 19019189.
13. Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada K, Bis JC, Marciante K, Rivadeneira F, Noseworthy PA, Sotoodehnia N, Smith NL, Rotter JI, Kors JA, Witteman JC, Hofman A, Heckbert SR, O'Donnell CJ, Uitterlinden AG, Psaty BM, Lumley T, Larson MG, Stricker BH. Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet 2009, 41:399-406. 10.1038/ng.364, 2701449, 19305408.
14. Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P. Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet 2005, 13:1213-1222. 10.1038/sj.ejhg.5201489, 16132053.
15. Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med 2004, 82:182-188. 10.1007/s00109-003-0522-z, 14760488.
16. Fodstad H, Swan H, Laitinen P, Piippo K, Paavonen K, Viitasalo M, Toivonen L, Kontula K. Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med 2004, 36(Suppl 1):53-63. 10.1080/17431380410032689, 15176425.
17. Marjamaa A, Salomaa V, Newton-Cheh C, Porthan K, Reunanen A, Karanko H, Jula A, Lahermo P, Väänänen H, Toivonen L, Swan H, Viitasalo M, Nieminen MS, Peltonen L, Oikarinen L, Palotie A, Kontula K. High prevalence of four long QT syndrome founder mutations in the Finnish population. Ann Med 2009, 41:234-240. 10.1080/07853890802668530, 2704397, 19160088.
18. Rautaharju PM, Zhou SH, Wong S, Calhoun HP, Berenson GS, Prineas R, Davignon A. Sex differences in the evolution of the electrocardiographic QT interval with age. Can J Cardiol 1992, 8:690-695.
19. Lehmann MH, Timothy KW, Frankovich D, Fromm BS, Keating M, Locati EH, Taggart RT, Towbin JA, Moss AJ, Schwartz PJ, Vincent GM. Age-gender influence on the rate-corrected QT interval and the QT-heart rate relation in families with genotypically characterized long QT syndrome. J Am Coll Cardiol 1997, 29:93-99. 10.1016/S0735-1097(96)00454-8, 8996300.
20. Priori SG, Schwartz PJ, Napolitano C, Bloise R, Ronchetti E, Grillo M, Vicentini A, Spazzolini C, Nastoli J, Bottelli G, Folli R, Cappelletti D. Risk stratification in the long-QT syndrome. N Engl J Med 2003, 348:1866-1874. 10.1056/NEJMoa022147, 12736279.
21. Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, Toivonen L, Kontula K. A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol 2001, 37:562-568. 10.1016/S0735-1097(00)01124-4, 11216980.
22. Friedlander Y, Vatta M, Sotoodehnia N, Sinnreich R, Li H, Manor O, Towbin JA, Siscovick DS, Kark JD. Possible association of the human KCNE1 (minK) gene and QT interval in healthy subjects: evidence from association and linkage analyses in Israeli families. Ann Hum Genet 2005, 69:645-656. 10.1046/j.1529-8817.2005.00182.x, 16266404.
23. Drici MD, Baker L, Plan P, Barhanin J, Romey G, Salama G. Mice display sex differences in halothane-induced polymorphic ventricular tachycardia. Circulation 2002, 106:497-503. 10.1161/01.CIR.0000023629.72479.24, 12135952.
24. Busch AE, Busch GL, Ford E, Suessbrich H, Lang HJ, Greger R, Kunzelmann K, Attali B, Stühmer W. The role of the IsK protein in the specific pharmacological properties of the IKs channel complex. Br J Pharmacol 1997, 122:187-189. 10.1038/sj.bjp.0701434, 1564944, 9313924.
25. Kurokawa J, Tamagawa M, Harada N, Honda S, Bai CX, Nakaya H, Furukawa T. Acute effects of oestrogen on the guinea pig and human IKr channels and drug-induced prolongation of cardiac repolarization. J Physiol 2008, 586:2961-2973. 10.1113/jphysiol.2007.150367, 2517194, 18440994.
26. Fodstad H, Bendahhou S, Rougier JS, Laitinen-Forsblom PJ, Barhanin J, Abriel H, Schild L, Kontula K, Swan H. Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients. Ann Med 2006, 38:294-304. 10.1080/07853890600756065, 16754261.
27. Nielsen NH, Winkel BG, Kanters JK, Schmitt N, Hofman-Bang J, Jensen HS, Bentzen BH, Sigurd B, Larsen LA, Andersen PS, Haunsø S, Kjeldsen K, Grunnet M, Christiansen M, Olesen SP. Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients. Biochem Biophys Res Commun 2007, 354:776-782. 10.1016/j.bbrc.2007.01.048, 17266934.
28. Mank-Seymour AR, Richmond JL, Wood LS, Reynolds JM, Fan YT, Warnes GR, Milos PM, Thompson JF. Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J 2006, 152:1116-1122. 10.1016/j.ahj.2006.08.020, 17161064.
29. Sotoodehnia N, Vatta M, Lemaitre RN, Rautaharju P, Durda P, Towbin JA, Friedlander Y, Tracy RP, Manolio T, Burke GL, Kuller LH, Siscovick DS. KCNE1 Gene D85N Variant, QT Interval, and Risk of Mortality [abstract]. Circulation 2005, 111:e231.
30. Tomás M, Napolitano C, De Giuli L, Bloise R, Subirana I, Malovini A, Bellazzi R, Arking DE, Marban E, Chakravarti A, Spooner PM, Priori SG. Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol 2010, 55:2745-2752.