Article
H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.
Journal of biomedical science - 4 Dec 2017
Matsumura Hiroya, Nakano Yukiko, Ochi Hidenori, Onohara Yuko, Sairaku Akinori, Tokuyama Takehito, Tomomori Shunsuke, Motoda Chikaaki, Amioka Michitaka, Hironobe Naoya, Toshishige Masaaki, Takahashi Shinya, Imai Katsuhiko, Sueda Taijiro, Chayama Kazuaki, Kihara Yasuki
Abstract excerpt
BACKGROUND: A common SCN5A polymorphism H558R (c.1673 A > G, rs1805124) improves sodium channel activity in mutated channels and known to be a genetic modifier of Brugada syndrome patients (BrS). We investigated clinical manifestations and underlying mechanisms of H558R in BrS. METHODS AND RESULTS: We genotyped H558R in 100 BrS (mean age 45 ± 14 years; 91 men) and 1875 controls (mean age 54 ± 18 years; 1546 men)....
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