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Common variants in RYR1 are associated with left ventricular hypertrophy assessed by electrocardiogram.

 Kyung-Won Hong  ;  Dong-Jik Shin  ;  Sang-Hak Lee  ;  Nak-Hoon Son  ;  Min-Jin Go  ;  Ji-Eun Lim  ;  Chol Shin  ;  Yangsoo Jang  ;  Bermseok Oh 
 EUROPEAN HEART JOURNAL, Vol.33(10) : 1250-1256, 2012 
Journal Title
Issue Date
Adult ; Aged ; Case-Control Studies ; Electrocardiography ; Female ; Genome-Wide Association Study ; Humans ; Hypertrophy, Left Ventricular/genetics* ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics* ; Risk Factors ; Ryanodine Receptor Calcium Release Channel/genetics*
Genomewide association study ; Left ventricular hypertrophy ; Electrocardiography ; Ryanodine receptor ; Cardiovascular disease
AIMS: To identify the genetic risk factors that influence the development of electrocardiographic (ECG) left ventricular hypertrophy (LVH), a major risk factor for cardiovascular (CV) morbidity and mortality. METHODS AND RESULTS: We performed a genomewide association study (GWAS) of ECG-LVH, in which the community-based Korea Association REsource (KARE) study (8432 controls and 398 cases) was analysed by Affymetrix SNP array 5.0. The GWAS results were validated in hospital-based samples (597 controls and 207 cases). Fourteen single-nucleotide polymorphisms (SNPs) in eight genetic loci (5q35.1, 6p22.3-22.1, 8q24.2, 11p15, 11q21-22.1, 14q12, 17q11.2, and 19q13.1) were associated with ECG-LVH in the original GWAS study (P < 1 × 10(-5)). Of these SNPs, 12 were genotyped in the hospital sample. There was consistent association with the 19q13.1 region which contains RYR1 gene. The most significant SNP in the region was rs10500279, which had genomewide significance in the combined GWAS/replication sample [odds ratio = 1.58 (confidence interval: 1.35-1.85), P = 1.0 × 10(-8)]. Mutations in RYR1, which encodes a major Ca(2+) channel in the skeletal muscle, have been reported to correlate with CV diseases. CONCLUSION: We performed the first GWAS for ECG-LVH, implicating the skeletal muscle Ca(2+) channel protein RYR1 as a genetic risk factor. These results might increase our understanding of the development of ECG-LVH.
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1. College of Medicine (의과대학) > Research Institute (부설연구소) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Biomedical Systems Informatics (의생명시스템정보학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Son, Nak Hoon(손낙훈) ORCID logo https://orcid.org/0000-0002-6192-8852
Lee, Sang Hak(이상학) ORCID logo https://orcid.org/0000-0002-4535-3745
Jang, Yang Soo(장양수) ORCID logo https://orcid.org/0000-0002-2169-3112
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