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

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

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: 1.351.85), 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.

Original languageEnglish
Pages (from-to)1250-1256
Number of pages7
JournalEuropean heart journal
Volume33
Issue number10
DOIs
Publication statusPublished - 2012 May 1

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Left Ventricular Hypertrophy
Electrocardiography
Single Nucleotide Polymorphism
Skeletal Muscle
Genetic Loci
Korea
Cardiovascular Diseases
Odds Ratio
Confidence Intervals
Morbidity
Mutation
Mortality
Genes
Proteins

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cite this

Hong, K. W., Shin, D. J., Lee, S. H., Son, N. H., Go, M. J., Lim, J. E., ... Oh, B. (2012). Common variants in RYR1 are associated with left ventricular hypertrophy assessed by electrocardiogram. European heart journal, 33(10), 1250-1256. https://doi.org/10.1093/eurheartj/ehr267
Hong, Kyung Won ; Shin, Dong Jik ; Lee, Sang Hak ; Son, Nak Hoon ; Go, Min Jin ; Lim, Ji Eun ; Shin, Chol ; Jang, Yangsoo ; Oh, Bermseok. / Common variants in RYR1 are associated with left ventricular hypertrophy assessed by electrocardiogram. In: European heart journal. 2012 ; Vol. 33, No. 10. pp. 1250-1256.
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abstract = "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: 1.351.85), 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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Common variants in RYR1 are associated with left ventricular hypertrophy assessed by electrocardiogram. / Hong, Kyung Won; Shin, Dong Jik; Lee, Sang Hak; Son, Nak Hoon; Go, Min Jin; Lim, Ji Eun; Shin, Chol; Jang, Yangsoo; Oh, Bermseok.

In: European heart journal, Vol. 33, No. 10, 01.05.2012, p. 1250-1256.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Common variants in RYR1 are associated with left ventricular hypertrophy assessed by electrocardiogram

AU - Hong, Kyung Won

AU - Shin, Dong Jik

AU - Lee, Sang Hak

AU - Son, Nak Hoon

AU - Go, Min Jin

AU - Lim, Ji Eun

AU - Shin, Chol

AU - Jang, Yangsoo

AU - Oh, Bermseok

PY - 2012/5/1

Y1 - 2012/5/1

N2 - 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: 1.351.85), 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.

AB - 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: 1.351.85), 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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