Research Papers:

Genetic association between 1425G/A SNP in PRKCH and hypertrophic cardiomyopathy in a Chinese population

Feng Ji _, Qun Liu, Zeyu Feng, Xinwei Han and Zhitong Li

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Oncotarget. 2017; 8:114839-114844. https://doi.org/10.18632/oncotarget.22214

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Feng Ji1,*, Qun Liu2,*, Zeyu Feng3, Xinwei Han1 and Zhitong Li1

1Department of Interventional Radiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

2Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA

3Medical School of Nantong University, Nantong 226001, China

*These authors have contributed equally to this work

Correspondence to:

Feng Ji, email: [email protected]

Keywords: hypertrophic cardiomyopathy; genetics; polymorphism; hypertrophic obstructive cardiomyopathy; PRKCH

Abbreviations: HCM: hypertrophic cardiomyopathy; SCD: sudden cardiac death; PKC: protein kinase C; HOCM: hypertrophic obstructive cardiomyopathy; LVOTO: left-ventricular outflow tract obstruction

Received: August 13, 2017     Accepted: September 23, 2017     Published: October 31, 2017


Hypertrophic cardiomyopathy is a heterogeneous myocardial disorder with a broad spectrum of clinical presentation and morphologic features. Previous reports indicated that protein kinase C pathway as a major determinant of cardiac hypertrophy and heart failure. Population-based analyses of the association between PRKCH gene (encoded PKCη) and HCM has not been performed yet. The purpose of this study is to investigate the association of the nonsynonymous SNP (1425G/A) in PRKCH gene and hypertrophic cardiomyopathy in a Chinese population. 323 patients with HCM and 326 controls were examined using a case-control methodology. The 1425G/A SNP in PRKCH was genotyped by allele-specific real-time PCR assay. The 1425G/A SNP in PRKCH increased the risk of HOCM (hypertrophic obstructive cardiomyopathy) (OR=1.427, 95% confidence interval, 1.013 to 2.012, P=0.046) under a dominant model. After age- and sex-adjustment, the significant associations remained in HOCM (for GG +AG versus AA, OR= 2.497, 95% confidence interval, 1.01 to 6.17; P=0.047). The 1425G/A SNP in PRKCH increases the risk of hypertrophic obstructive cardiomyopathy in the Chinese population.

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