title: Single nucleotide polymorphism map of five long-QT genes.
abstract: We screened a white population for single nucleotide polymorphisms (SNPs) in five long QT syndrome genes, namely, KCNQ1 (LQT1), HERG (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6). We found 35 SNPs, 10 of which have not been previously described. Ten SNPs were in KCNE1, six in HERG, eight in KCNQ1, four in KCNE2, and seven in SCN5A. Four SNPs were associated with QTc interval in our 141 subjects, one in KCNE1, one in KCNE2, and two in SCN5A. Two of these SNPs have not been described. We conclude that these five long QT syndrome genes contain common variants, some of which are associated with QTc interval in normal persons. We suggest that analysis of these SNPs in a much larger cohort would enable establishment of common haplotypes that are associated with QTc. These haplotypes could facilitate prediction of arrhythmia risk in the general population.
authors.affiliation: HELIOS Klinikum, Max Delbrück Center for Molecular Medicine, Medical Faculty of the Charité, Berlin, Germany.
authors.forename: Atakan
authors.initials: A
authors.lastname: Aydin
authors.forename: Sylvia
authors.initials: S
authors.lastname: Bähring
authors.forename: Stefan
authors.initials: S
authors.lastname: Dahm
authors.forename: Ulf P
authors.initials: UP
authors.lastname: Guenther
authors.forename: Regina
authors.initials: R
authors.lastname: Uhlmann
authors.forename: Andreas
authors.initials: A
authors.lastname: Busjahn
authors.forename: Friedrich C
authors.initials: FC
authors.lastname: Luft
mesh_terms: D015331:Cohort Studies; D004252:DNA Mutational Analysis; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D008133:Long QT Syndrome / Q000235:genetics*; D062554:NAV1.5 Voltage-Gated Sodium Channel; D020641:Polymorphism, Single Nucleotide; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D012307:Risk Factors; D015222:Sodium Channels / Q000235:genetics; D018433:Twin Studies as Topic
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C489622:KCNE1 protein, human; C489619:KCNE2 protein, human; C502068:KCNE5 protein, human; C000606913:KCNH2 protein, human; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D062554:NAV1.5 Voltage-Gated Sodium Channel; D024642:Potassium Channels, Voltage-Gated; C568320:SCN5A protein, human; D015222:Sodium Channels