Twenty single-nucleotide polymorphisms in four genes encoding cardiac ion channels

Hiroyasu Iwasa; Masahiko Kurabayashi; Ryozo Nagai; Yusuke Nakamura; Toshihiro Tanaka

doi:10.1007/s100380200026

Twenty single-nucleotide polymorphisms in four genes encoding cardiac ion channels

J Hum Genet. 2002;47(4):208-12. doi: 10.1007/s100380200026.

Authors

Hiroyasu Iwasa¹, Masahiko Kurabayashi, Ryozo Nagai, Yusuke Nakamura, Toshihiro Tanaka

Affiliation

¹ Human Genome Center, Institute of Medical Science, University of Tokyo, Japan.

PMID: 12166659
DOI: 10.1007/s100380200026

Abstract

We here report 20 novel single-nucleotide polymorphisms in four genes that are potentially involved in the excitement of cardiomyocytes: 1 in KCNA5 (encoding Kv1.5), 5 in KCNAB1 (encoding Kvbeta1.3), 5 in KCNIP2 (encoding KChIP2), and 9 in CACNA1C (encoding a cardiac L-type voltage-dependent calcium ion channel, dihydropyridine receptor). We also examined their allelic frequencies in Japanese individuals. These data will be useful for genetic association studies designed to investigate secondary long QT syndrome or other circulatory disorders.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Gene Frequency
Heart / physiology*
Humans
Ion Channels / genetics*
Ion Channels / physiology
Long QT Syndrome / genetics*
Polymorphism, Single Nucleotide*

Substances

Ion Channels