Single nucleotide polymorphism map of five long-QT genes

Journal of Molecular Medicine

Volumn 83, Issue 2, 2005, Pages 159-165

  Aydin, Atakan ^b   Bähring, Sylvia ^b   Dahm, Stefan ^b   Guenther, Ulf P ^b   Uhlmann, Regina ^b   Busjahn, Andreas ^c   Luft, Friedrich C ^a,b  

^a Franz Vollhard Institut   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c HealthTwist GmbH   (Germany)

Author keywords

QT interval; Single nucleotide polymorphism; Sudden cardiac death

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM CHANNEL HERG; POTASSIUM CHANNEL KCNQ1;

ARTICLE; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL SCN5A; QT INTERVAL; QT PROLONGATION; SINGLE NUCLEOTIDE POLYMORPHISM;

COHORT STUDIES; DNA MUTATIONAL ANALYSIS; ETHER-A-GO-GO POTASSIUM CHANNELS; GENETIC SCREENING; GENOTYPE; HAPLOTYPES; HUMANS; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS, VOLTAGE-GATED; RISK FACTORS; SODIUM CHANNELS; TWIN STUDIES;

EID: 15044363738     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-004-0595-3     Document Type: Article

References (22)

1. Motte G, Coumel P, Abitbol G, Dessertenne F, Slama R (1970) The long QT syndrome and syncope caused by spike torsades. Arch Mal Coeur Vaiss 63:831-853
2. Yap YG, Camm AJ (2003) Drug induced QT prolongation and torsades de pointes. Heart 89:1363-1372
3. Kass RS, Moss AJ (2003) Long QT syndrome: novel insights into the mechanisms of cardiac arrhythmias. J Clin Invest 112:810-815
4. Al-Khatib SM, LaPointe NM, Kramer JM, Califf RM (2003) What clinicians should know about the QT interval. JAMA 10:290:2120-2120
5. Busjahn A, Knoblauch H, Faulhaber H-D, Uhlmann R, Hoehe M, Schuster H, Luft FC (1999) The QT interval is linked to two long-QT syndrome loci in normal subjects. Circulation 99:3161-3164
6. Aydin A, Luft FC, Bahring S (2004) Validation of fluorescence-labeled artificial nonhuman sequences for single-strand conformation polymorphism mutation detection in familial hypercholesterolemia. Anal Biochem 324:16-21
7. Lange K (2002) Mathematical and statistical methods for genetic analysis. Springer, Berlin Heidelberg New York
8. Sham PC, Cherny SS, Purcell S, Hewitt JK (2000) Power of linkage versus association analysis of quantitative traits, by use of variance-components models for sibship data. Am J Hum Genet 66:1616-1630
9. Mohler PJ, Schott JJ, Gramolini AO, Duly KW, Guatimosim S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V (2003) Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421:634-639
10. Ackerman MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME (2003) Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc 78:1479-1487
11. Sesti F, Abbott GW, Wei J, Murray KT, Saksena S, Schwartz PJ, Priori SG, Roden DM, George AL Jr, Goldstein SA (2000) A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci U S A 97:10613-10618
12. Paulussen ADC, Gilissen RAHJ, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJM, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J (2004) Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med 82:182-188
13. Yang P HKanki, Drolet B, Yang T, Wei J, Viswanathan PC, Hohnloser SH, Shimizu W, Schwartz PJ, Stanton M, Murray KT, Norris K, George AL Jr, Roden DM (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation 105:1943-1948
14. Bezzina CR, Verkerk AO Busjahn A, Jeron A, Erdmann J, Koopmann TT, Bhuiyan ZA, Wilders R, Mannens MM, Tan HL, Luft FC, Schunkert H, Wilde AA (2003) A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization. Cardiovasc Res 59:27-36
15. Fernandez D, Ghanta A, Kauffman GW, Sanguinetti MC (2003) Physicochemical features of the hERG channel drug binding site. J Biol Chem 279:10120-10127
16. Viswanathan PC, Benson DW, Balser JR (2003) A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest 111:341-346
17. Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105:511-519
18. Laitinen PJ, Swan H, Kontula K (2003) Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. Eur J Hum Genet 11:888-891
19. Knoblauch H, Bauerfeind A, Krähenbühl C, Daury A, Rohde K, Bejanin S, Essioux L, Schuster H, Luft FC, Reich J (2002) Common haplotypes in six lipid genes explain forty percent of the genetic variance in the general population. Hum Mol Genet 11:1477-1485
20. Knoblauch H, Bauerfeind A, Toliat M, Becker C, Luganskaja T, Günther U, Rohde K, Schuster H, Junghans C, Luft FC, Nürnberg P, Reich JG (2004) Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density and low-density lipoprotein cholesterol. Hum Mol Genet (in press)
21. Barroso I, Luan J, Middelberg RP, Harding AH, Franks PW, Jakes RW, Clayton D, Schafer AJ, O'Rahilly S, Wareham NJ (2003) Gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. PLoS Biol 1 (epub Oct 13)
22. Dunnen JT den, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124