Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.

ABSTRACT:

Background and objectives

Due to recent studies that have shown an association between the genetic variation of SCN5A and sick sinus syndrome (SSS), we sought to determine if a similar correlation existed in Korean patients with SSS.

Subjects and methods

We enrolled 30 patients with SSS who showed a sinus pause (longer than 3.0 s) in Holter monitoring, in addition to 80 controls. All exons including the putative splicing sites of the SCN5A gene were amplified by polymerase chain reaction and sequenced either directly or following subcloning. Wild-type and single nucleotide polymorphisms were expressed in human embryonic kidney cells, and the peak sodium current (INa ) was analyzed using the whole-cell patch-clamp technique.

Results

A total of 9 genetic variations were

SUBMITTER: Lee YS 

PROVIDER: S-EPMC4720851 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature