Key result
The 1425G/A SNP in the PRKCH gene significantly increased the risk of hypertrophic obstructive cardiomyopathy in a Chinese population (adjusted OR 2.497; 95% CI 1.01-6.17; P=0.047).
Why the study?
Is the 1425G/A SNP in the PRKCH gene associated with an increased risk of hypertrophic cardiomyopathy in a Chinese population?
Case-Control (n=649)
Is the 1425G/A SNP in the PRKCH gene associated with an increased risk of hypertrophic cardiomyopathy in a Chinese population?
Odds Ratio: 2.497 (95% CI 1.01–6.17)
p-value: p=0.047
The 1425G/A SNP in the PRKCH gene is associated with an increased risk of hypertrophic obstructive cardiomyopathy in the Chinese population.
May inform targeted genetic studies in Chinese hypertrophic cardiomyopathy; hypothesis-generating and should not yet change practice.
// Feng Ji 1, * , Qun Liu 2, * , Zeyu Feng 3 , Xinwei Han 1 and Zhitong Li 1 1 Department of Interventional Radiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China 2 Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA 3 Medical School of Nantong University, Nantong 226001, China * These authors have contributed equally to this work Correspondence to: Feng Ji, email: jifeng0611@hotmail.com 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 ABSTRACT 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.
No takes yet. Share an insight, caveat, or question.
Ji et al. (2017) conducted a case-control in Hypertrophic cardiomyopathy (n=649). 1425G/A SNP in PRKCH gene vs. AA genotype (controls) was evaluated on Risk of hypertrophic obstructive cardiomyopathy (HOCM) (OR 2.497, 95% CI 1.01-6.17, p=0.047). The 1425G/A SNP in the PRKCH gene significantly increased the risk of hypertrophic obstructive cardiomyopathy in a Chinese population (adjusted OR 2.497; 95% CI 1.01-6.17; P=0.047).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: