title: Genetic variations in five genes involved in the excitement of cardiomyocytes.
abstract: We provide here 29 genetic variations, including 28 novel ones, in five genes that are potentially involved in the excitement of cardiomyocytes: we found 4 in KCNA10, 2 in KCNK1, 8 in KCNK6, 11 in SLC18A1 (VMAT1), and 4 in SLC6A2 (norepinephrine transporter). We also examined their allelic frequencies in a Japanese population of long QT syndrome-affected and nonaffected individuals. These data would be useful for genetic association studies designed to investigate acquired arrhythmias.
authors.affiliation: Human Genome Center, Institute of Medical Science, University of Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Iwasa
authors.forename: M
authors.initials: M
authors.lastname: Kurabayashi
authors.forename: R
authors.initials: R
authors.lastname: Nagai
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D017931:DNA Primers; D014644:Genetic Variation; D006321:Heart / Q000502:physiology*; D006801:Humans; D007438:Introns; D008133:Long QT Syndrome / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics; D026901:Membrane Transport Proteins; D009154:Mutation; D009206:Myocardium / Q000166:cytology; D009479:Neuropeptides; D050484:Norepinephrine Plasma Membrane Transport Proteins; D016133:Polymerase Chain Reaction; D015221:Potassium Channels / Q000235:genetics*; D024683:Potassium Channels, Tandem Pore Domain; D027981:Symporters / Q000235:genetics; D050492:Vesicular Biogenic Amine Transport Proteins; D050493:Vesicular Monoamine Transport Proteins
chemical_list: D017931:DNA Primers; C109137:KCNK1 protein, human; C118290:KCNK6 protein, human; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009479:Neuropeptides; D050484:Norepinephrine Plasma Membrane Transport Proteins; D015221:Potassium Channels; D024683:Potassium Channels, Tandem Pore Domain; C493449:SLC18A1 protein, human; C493227:SLC6A2 protein, human; D027981:Symporters; D050492:Vesicular Biogenic Amine Transport Proteins; D050493:Vesicular Monoamine Transport Proteins