title: Association Between Genetic Variation in the SCN10A Gene and Cardiac Conduction Abnormalities in Patients With Hypertrophic Cardiomyopathy.
abstract: Arrhythmias are associated with reduced quality of life and poor prognosis in patients with hypertrophic cardiomyopathy (HCM). Recent genome-wide association studies revealed that a nonsynonymous single nucleotide polymorphism, rs6795970, in the SCN10A gene was associated with the PR interval. We examined whether the PR prolonging allele (A allele) in the SCN10A gene may be associated with cardiac conduction abnormalities in HCM patients.We genotyped the polymorphism in 149 HCM patients. Conduction abnormalities were defined as first-degree heart block, bundle-branch block, and bifascicular heart block. Patients were divided into two groups: group A consisted of 122 patients (82%) without a conduction abnormality; and group B consisted of 27 patients (18%) with one or more cardiac conduction abnormalities. The frequency distribution of the SCN10A genotypes (G/G, G/A, and A/A) among the patients with HCM was 71%, 26%, and 3%, respectively. A cardiac conduction abnormality was documented in 9% with G/G and 40% with G/A or A/A. There was a significant difference in the genotype distribution between the two groups (P = 0.0002). In the dominant A allele model, there was a significant difference in genotypes between the two groups (P < 0.0001). In addition, the A allele remained significant after adjusting for other covariates in a multivariate model (odds ratio = 6.30 [95% confidence interval: 2.24 to 19.09], P = 0.0005).The rs6795970 in the SCN10A gene, which is reported to carry a high risk of heart block, might be associated with cardiac conduction abnormalities in HCM patients.
authors.affiliation: Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine.
authors.forename: Chiharuko
authors.initials: C
authors.lastname: Iio
authors.forename: Akiyoshi
authors.initials: A
authors.lastname: Ogimoto
authors.forename: Takayuki
authors.initials: T
authors.lastname: Nagai
authors.forename: Jun
authors.initials: J
authors.lastname: Suzuki
authors.forename: Katsuji
authors.initials: K
authors.lastname: Inoue
authors.forename: Kazuhisa
authors.initials: K
authors.lastname: Nishimura
authors.forename: Teruyoshi
authors.initials: T
authors.lastname: Uetani
authors.forename: Hideki
authors.initials: H
authors.lastname: Okayama
authors.forename: Takafumi
authors.initials: T
authors.lastname: Okura
authors.forename: Yuji
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Yasuharu
authors.initials: Y
authors.lastname: Tabara
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Kohara
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Miki
authors.forename: Mareomi
authors.initials: M
authors.lastname: Hamada
authors.forename: Jitsuo
authors.initials: J
authors.lastname: Higaki
mesh_terms: D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004562:Electrocardiography / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease; D006327:Heart Block / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000523:psychology; D006329:Heart Conduction System / Q000503:physiopathology; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D062559:NAV1.8 Voltage-Gated Sodium Channel / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D011788:Quality of Life
chemical_list: D062559:NAV1.8 Voltage-Gated Sodium Channel; C568317:SCN10A protein, human